Variant report

Variant	rs2214928
Chromosome Location	chr7:104807248-104807249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104807148..104809594-chr7:104811696..104814300,3	K562	blood:
2	chr7:104805022..104807965-chr7:104857264..104859222,2	MCF-7	breast:
3	chr7:104806792..104808535-chr7:104816568..104819196,2	MCF-7	breast:
4	chr7:104807148..104809035-chr7:104811696..104814042,2	K562	blood:
5	chr7:104805654..104807783-chr7:104838268..104840997,2	K562	blood:
6	chr7:104640833..104643034-chr7:104805707..104808413,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1013016	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1019040	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10224526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs10228503	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap]
rs10231782	0.82[EUR][1000 genomes]
rs10231975	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10240574	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10241374	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10242713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs10244764	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10245589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.91[ASN][1000 genomes]
rs10245676	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10245796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10248422	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs10248954	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs10252295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10253962	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10258841	0.80[MKK][hapmap];0.87[TSI][hapmap]
rs10259721	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs10260346	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10261472	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10261573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10264273	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10268866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs10269027	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10276583	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs10279486	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10280470	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10280752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10808139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808140	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs10953464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953467	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953473	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap]
rs1143	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs11520996	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11973516	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs11976329	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11981399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12531424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12532456	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534140	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs12537761	0.84[EUR][1000 genomes]
rs12540007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12667625	0.86[EUR][1000 genomes]
rs12671368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705297	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705299	0.87[ASN][1000 genomes]
rs12705305	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap]
rs13237370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13245298	0.84[EUR][1000 genomes]
rs17721991	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs1859786	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917047	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs1967301	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2058711	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2216107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237604	0.84[EUR][1000 genomes]
rs2237605	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237606	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237607	0.96[EUR][1000 genomes]
rs2237608	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237609	0.92[EUR][1000 genomes]
rs2237610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237615	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2237616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2237617	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2237618	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2240453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240455	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs2240457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240465	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283016	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299297	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2299299	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2299320	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2299326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2385542	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs28434158	0.83[EUR][1000 genomes]
rs28489493	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3173872	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs3213676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34202980	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35418021	0.91[ASN][1000 genomes]
rs35780942	0.83[EUR][1000 genomes]
rs3779208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs3801283	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs3815256	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730067	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs4730068	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs4730069	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4730071	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes]
rs4730078	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap]
rs62488069	0.85[EUR][1000 genomes]
rs6466043	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466044	0.89[ASN][1000 genomes]
rs6466045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466046	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944847	0.88[EUR][1000 genomes]
rs6952534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6971241	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs717352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs725506	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs740297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs740298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs740300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs757958	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7780887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783812	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7785197	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs7787448	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805792	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7808168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7810119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8180737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs875568	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs960437	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs9641340	0.82[CEU][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9641341	0.83[EUR][1000 genomes]
rs9641343	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap]
rs9641345	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs999895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2214928	GLI3	trans	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
3	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
4	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
5	chr7:104777200-104809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:104778000-104807800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:104780000-104807400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:104780000-104818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:104780200-104818800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:104782600-104814000	Weak transcription	Colonic Mucosa	Colon
11	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
12	chr7:104784200-104810400	Weak transcription	NHLF	lung
13	chr7:104784400-104818800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:104786400-104812200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:104787000-104808400	Weak transcription	HepG2	liver
16	chr7:104787000-104813800	Weak transcription	Right Atrium	heart
17	chr7:104787600-104813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:104791000-104813800	Weak transcription	Pancreas	Pancrea
19	chr7:104793200-104809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:104796000-104809200	Strong transcription	Primary T cells from cord blood	blood
21	chr7:104796000-104810200	Strong transcription	Fetal Thymus	thymus
22	chr7:104799800-104810000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:104799800-104810000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:104799800-104811000	Weak transcription	Esophagus	oesophagus
25	chr7:104799800-104813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:104800000-104809800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:104802000-104810800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:104802400-104810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:104802800-104809200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:104803200-104808400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr7:104803200-104809000	Strong transcription	HSMM	muscle
32	chr7:104803200-104809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:104803200-104809600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:104803200-104809600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:104803200-104809800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:104803200-104809800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:104803400-104809600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:104803600-104808000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:104803600-104809200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:104803600-104809600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:104803800-104809000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:104803800-104809600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:104803800-104809600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:104803800-104809800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:104803800-104810000	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:104803800-104810200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:104804000-104808000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:104804000-104808200	Strong transcription	Fetal Intestine Large	intestine
49	chr7:104804200-104807600	Strong transcription	Thymus	Thymus
50	chr7:104804200-104808000	Strong transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links