Variant report

Variant	rs311573
Chromosome Location	chr2:86296593-86296594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:86296560-86296710	Caco-2	colon:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
2	CTCF	chr2:86296495-86296749	K562	blood:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
3	CTCF	chr2:86296500-86296650	HMF	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
4	CTCF	chr2:86296523-86296688	K562	blood:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
5	RAD21	chr2:86296555-86296686	Hela-S3	cervix:	n/a	chr2:86296613-86296632
6	CTCF	chr2:86296540-86296657	MCF-7	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
7	CTCF	chr2:86296536-86296668	Gliobla	brain:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
8	CTCF	chr2:86296580-86296730	HVMF	connective:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
9	CTCF	chr2:86296520-86296670	HVMF	connective:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
10	CTCF	chr2:86296480-86296630	AG04450	lung:	n/a	chr2:86296612-86296630
11	CTCF	chr2:86296520-86296670	AG09319	gingival:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
12	POLR2A	chr2:86296582-86296754	K562	blood:	n/a	n/a
13	CTCF	chr2:86296550-86296672	MCF-7	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
14	CTCF	chr2:86296520-86296670	HPAF	blood vessel:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
15	CTCF	chr2:86296560-86296710	HCPEpiC	choroid plexus:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
16	CTCF	chr2:86296539-86296644	MCF-7	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
17	CTCF	chr2:86296540-86296690	MCF-7	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
18	CTCF	chr2:86296520-86296670	K562	blood:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
19	CTCF	chr2:86296540-86296690	A549	lung:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
20	MAZ	chr2:86296543-86296650	K562	blood:	n/a	n/a
21	CTCF	chr2:86296538-86296638	HepG2	liver:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
22	CTCF	chr2:86296577-86296658	ProgFib	skin:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
23	CTCF	chr2:86296540-86296666	A549	lung:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
24	CTCF	chr2:86296460-86296610	HepG2	liver:	n/a	n/a
25	CTCF	chr2:86296560-86296710	Hela-S3	cervix:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
26	CTCF	chr2:86296542-86296660	MCF-7	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
27	CTCF	chr2:86296541-86296678	Hela-S3	cervix:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
28	CTCF	chr2:86296540-86296690	HBMEC	blood vessel:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
29	CTCF	chr2:86296520-86296670	HPF	lung:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
30	CTCF	chr2:86296560-86296710	AG04450	lung:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
31	SMC3	chr2:86296582-86296747	Hela-S3	cervix:	n/a	n/a
32	SPI1	chr2:86296485-86296605	K562	blood:	n/a	n/a
33	CTCF	chr2:86296549-86296655	MCF-7	breast:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
34	CTCF	chr2:86296500-86296650	RPTEC	kidney:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
35	CTCF	chr2:86296580-86296730	HFF-Myc	foreskin:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
36	POLR2A	chr2:86296442-86296637	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr2:86296540-86296690	AG04449	skin:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
38	CTCF	chr2:86296480-86296630	BJ	skin:	n/a	chr2:86296612-86296630
39	CTCF	chr2:86296438-86296728	A549	lung:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
40	CTCF	chr2:86296520-86296670	AG04449	skin:	n/a	chr2:86296612-86296630 chr2:86296614-86296635
41	CTCF	chr2:86296500-86296650	HBMEC	blood vessel:	n/a	chr2:86296612-86296630 chr2:86296614-86296635

No.	Distal block	Cell Line	Cell type
1	chr2:86283452..86286024-chr2:86293941..86297049,3	MCF-7	breast:
2	chr2:86296005..86299162-chr2:86332522..86336398,3	K562	blood:
3	chr2:86277732..86280546-chr2:86295705..86298565,2	MCF-7	breast:
4	chr2:86296440..86298429-chr2:86315336..86317851,2	K562	blood:

Variant related genes	Relation type
POLR1A	TF binding region
ENSG00000068654	Chromatin interaction
ENSG00000132300	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10165327	0.86[AMR][1000 genomes]
rs10176454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10179090	0.86[AMR][1000 genomes]
rs10183744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10187547	0.89[ASN][1000 genomes]
rs1019592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1025104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10427394	0.86[CEU][hapmap];0.86[AMR][1000 genomes]
rs1075622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11127012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11679343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11686963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11694973	0.98[ASN][1000 genomes]
rs12053229	0.98[ASN][1000 genomes]
rs12714168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1424517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1424520	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs1559515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1559516	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs1559517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1834163	0.98[ASN][1000 genomes]
rs1991106	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2018547	0.88[ASN][1000 genomes]
rs2241436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2278084	0.81[AMR][1000 genomes]
rs2278086	0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288118	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288120	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288121	0.85[CEU][hapmap];0.86[AMR][1000 genomes]
rs2367201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2367202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3088038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs311562	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs311563	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311566	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs311567	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs311569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs311581	0.85[CEU][hapmap]
rs311587	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3731820	0.98[ASN][1000 genomes]
rs3770069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3810828	0.83[YRI][hapmap]
rs3815840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4618054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4832021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832022	0.98[ASN][1000 genomes]
rs4832027	0.82[YRI][hapmap]
rs4832241	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4832242	0.86[CEU][hapmap];0.86[AMR][1000 genomes]
rs4832244	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4832245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4832246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4832247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4832248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4832249	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4832250	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs4832251	0.98[ASN][1000 genomes]
rs59947468	0.92[ASN][1000 genomes]
rs60479377	0.92[ASN][1000 genomes]
rs60719866	0.92[ASN][1000 genomes]
rs61620607	0.99[ASN][1000 genomes]
rs6547659	0.81[AMR][1000 genomes]
rs6720327	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6740228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6741577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6750581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6759862	0.98[ASN][1000 genomes]
rs725046	0.98[ASN][1000 genomes]
rs749581	0.88[JPT][hapmap]
rs7559420	1.00[ASN][1000 genomes]
rs7562837	0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7598787	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7606421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs918859	0.89[JPT][hapmap]
rs979940	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs311573	POLR1A	cis	Stomach	GTEx
rs311573	POLR1A	cis	Nerve Tibial	GTEx
rs311573	POLR1A	cis	Artery Tibial	GTEx
rs311573	POLR1A	cis	Thyroid	GTEx
rs311573	POLR1A	cis	Esophagus Muscularis	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:86282600-86299200	Weak transcription	Small Intestine	intestine
6	chr2:86285800-86299400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:86286000-86302200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:86286200-86298400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:86286200-86298600	Strong transcription	Fetal Lung	lung
12	chr2:86286200-86310400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:86286200-86311200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:86287000-86298800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:86289800-86307200	Strong transcription	HepG2	liver
16	chr2:86290200-86299400	Strong transcription	Hela-S3	cervix
17	chr2:86290200-86310800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:86290600-86297600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:86290600-86306200	Strong transcription	Fetal Intestine Large	intestine
20	chr2:86290800-86298200	Strong transcription	Liver	Liver
21	chr2:86290800-86299400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:86290800-86310200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:86290800-86314600	Strong transcription	HMEC	breast
24	chr2:86290800-86318600	Strong transcription	K562	blood
25	chr2:86290800-86322600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr2:86291000-86298400	Strong transcription	Primary B cells from cord blood	blood
27	chr2:86291000-86311200	Strong transcription	Fetal Brain Female	brain
28	chr2:86291400-86299200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:86291600-86297600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:86291600-86319000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:86291800-86298000	Weak transcription	Fetal Brain Male	brain
32	chr2:86291800-86298800	Strong transcription	HUVEC	blood vessel
33	chr2:86291800-86299400	Strong transcription	GM12878-XiMat	blood
34	chr2:86291800-86311400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:86291800-86318800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:86292000-86298600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:86292000-86298600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:86292800-86331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:86293000-86297400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:86294000-86300400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:86294600-86298800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:86294800-86298600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:86294800-86309600	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr2:86295000-86296800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:86295000-86297400	Genic enhancers	HSMM	muscle
46	chr2:86295000-86297600	Genic enhancers	Dnd41	blood
47	chr2:86295000-86297800	Strong transcription	Fetal Intestine Small	intestine
48	chr2:86295000-86298200	Strong transcription	Brain Substantia Nigra	brain
49	chr2:86295000-86299200	Strong transcription	Fetal Kidney	kidney
50	chr2:86295200-86296600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links