Variant report

Variant	rs10782944
Chromosome Location	chr1:93284048-93284049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93214410..93215230-chr1:93283967..93284512,2	MCF-7	breast:
2	chr1:93216027..93217718-chr1:93282953..93285543,2	MCF-7	breast:
3	chr1:93282610..93284892-chr1:93288491..93290584,2	K562	blood:
4	chr1:93282322..93284805-chr1:93286517..93288170,2	K562	blood:
5	chr1:93214256..93215505-chr1:93283637..93284517,3	K562	blood:
6	chr1:93214232..93215219-chr1:93283675..93284503,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234202	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10218670	0.89[CEU][hapmap]
rs10493863	0.83[CHD][hapmap]
rs10735782	0.89[CEU][hapmap]
rs10747448	0.89[CEU][hapmap]
rs10747449	0.88[CEU][hapmap]
rs10747450	0.89[CEU][hapmap]
rs10782940	0.89[CEU][hapmap]
rs10782945	0.92[CHD][hapmap]
rs10782946	0.92[CHD][hapmap]
rs10874728	0.89[CEU][hapmap]
rs10874729	0.89[CEU][hapmap]
rs10874731	0.89[CEU][hapmap]
rs10874742	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874744	0.83[CHD][hapmap]
rs10874746	0.92[CHD][hapmap]
rs11164804	0.89[CEU][hapmap]
rs11164808	0.89[CEU][hapmap]
rs11164813	0.89[CEU][hapmap]
rs11164821	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164835	0.83[CHD][hapmap]
rs11164845	1.00[CHB][hapmap]
rs12029026	0.85[ASN][1000 genomes]
rs1337109	0.89[CEU][hapmap]
rs1360366	0.85[CHD][hapmap]
rs1411706	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1415294	0.89[CEU][hapmap]
rs1467559	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1538029	0.89[CEU][hapmap]
rs1556564	0.89[CEU][hapmap]
rs1556565	0.89[CEU][hapmap]
rs1610319	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1929138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932966	0.89[CEU][hapmap]
rs1977225	0.85[EUR][1000 genomes]
rs1977227	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1977228	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1977229	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2025100	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065916	0.89[CEU][hapmap]
rs2107520	0.89[CEU][hapmap]
rs2107521	0.89[CEU][hapmap]
rs2158446	0.88[CEU][hapmap]
rs2244005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244496	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2391192	0.81[EUR][1000 genomes]
rs2391193	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2391196	0.88[CEU][hapmap]
rs2391199	0.89[CEU][hapmap]
rs2391200	0.86[CEU][hapmap]
rs2774940	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774941	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap]
rs2774943	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811599	1.00[CHB][hapmap];0.82[CHD][hapmap];0.84[EUR][1000 genomes]
rs2811602	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989014	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35054144	0.89[CEU][hapmap]
rs3790445	0.89[CEU][hapmap]
rs3790446	0.89[CEU][hapmap]
rs4240962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847222	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847247	0.89[CEU][hapmap]
rs4847266	0.88[CEU][hapmap]
rs4847363	0.89[CEU][hapmap]
rs4847370	0.89[CEU][hapmap]
rs6604003	0.89[CEU][hapmap]
rs6604010	0.89[CEU][hapmap]
rs6604015	0.89[CEU][hapmap]
rs6604018	0.89[CEU][hapmap]
rs6604025	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661600	0.89[CEU][hapmap]
rs6671421	0.89[CEU][hapmap]
rs6685705	0.89[CEU][hapmap]
rs6687994	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696636	0.89[CEU][hapmap]
rs6703467	0.89[CEU][hapmap]
rs7416169	0.89[CEU][hapmap]
rs7513624	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7513815	0.89[CEU][hapmap]
rs7514716	0.89[CEU][hapmap]
rs7515257	0.83[CHD][hapmap]
rs7516141	0.89[CEU][hapmap]
rs7526582	0.89[CEU][hapmap]
rs7527343	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7527356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529332	0.89[CEU][hapmap]
rs7529630	0.89[CEU][hapmap]
rs7532731	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536563	0.92[CHD][hapmap]
rs7540407	0.89[CEU][hapmap]
rs7541829	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543077	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543112	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543327	0.89[CEU][hapmap]
rs7543964	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[ASN][1000 genomes]
rs7549844	0.88[CEU][hapmap]
rs7551340	0.90[ASN][1000 genomes]
rs7551880	0.85[CEU][hapmap]
rs927339	0.89[CEU][hapmap]
rs932637	0.89[CEU][hapmap]
rs9439920	0.89[CEU][hapmap]
rs9439924	0.90[ASN][1000 genomes]
rs945724	0.89[CEU][hapmap]
rs9651257	0.83[CHD][hapmap]
rs9662515	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976208	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93281400-93284200	Enhancers	Fetal Intestine Small	intestine
2	chr1:93281800-93284200	Enhancers	HepG2	liver
3	chr1:93282000-93284200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:93284000-93284200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:93284000-93285600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:93284000-93285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:93284000-93286200	Weak transcription	K562	blood
8	chr1:93284000-93287600	Weak transcription	Placenta	Placenta
9	chr1:93284000-93288600	Weak transcription	Stomach Mucosa	stomach

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