Variant report

Variant	rs2179524
Chromosome Location	chr6:163934616-163934617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163846486..163849719-chr6:163934600..163936577,3	K562	blood:
2	chr6:163835622..163837984-chr6:163932902..163934643,2	K562	blood:
3	chr6:163933236..163935376-chr6:163942344..163945131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1003528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016501	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016502	1.00[CHB][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047944	1.00[CHB][hapmap];0.97[GIH][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234603	1.00[CHB][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614795	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	1.00[CHB][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629251	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap]
rs1737329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737600	1.00[CHB][hapmap];0.93[GIH][hapmap];0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs1737601	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	1.00[CHB][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	1.00[CHB][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	1.00[CHB][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744926	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744927	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744928	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744933	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038146	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	0.92[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2057003	1.00[CHB][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092407	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.85[EUR][1000 genomes]
rs2179523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321702	1.00[CHB][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484877	1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745365	1.00[ASN][1000 genomes]
rs2757579	1.00[ASN][1000 genomes]
rs2757580	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	1.00[ASN][1000 genomes]
rs2757586	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757588	1.00[CHB][hapmap]
rs2757589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759381	0.95[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759382	0.85[EUR][1000 genomes]
rs2759383	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759384	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759385	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2759387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759388	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2759389	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759390	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759391	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	1.00[CHB][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759398	1.00[ASN][1000 genomes]
rs2759399	1.00[ASN][1000 genomes]
rs2784865	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784867	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2784874	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs2874602	1.00[CHB][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4708997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455901	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6455902	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	0.82[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.87[EUR][1000 genomes]
rs6906008	0.87[EUR][1000 genomes]
rs6909364	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913113	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915247	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926584	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	0.85[EUR][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	1.00[CHB][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783136	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs814143	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295222	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295224	1.00[CHB][hapmap];0.86[GIH][hapmap];0.84[LWK][hapmap];0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs9347754	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347759	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9355427	1.00[CHB][hapmap]
rs9356117	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	0.80[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365574	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9456866	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
2	chr6:163920200-163934800	Weak transcription	Ovary	ovary
3	chr6:163926600-163934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:163926600-163934800	Weak transcription	Lung	lung
5	chr6:163926600-163934800	Weak transcription	Psoas Muscle	Psoas
6	chr6:163926600-163934800	Weak transcription	Right Atrium	heart
7	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
10	chr6:163926800-163934800	Weak transcription	Right Ventricle	heart
11	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
13	chr6:163928600-163938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:163928800-163934800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:163928800-163942800	Weak transcription	HSMM	muscle
17	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
19	chr6:163929000-163938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:163929200-163946800	Weak transcription	HMEC	breast
23	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:163929600-163934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
29	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
31	chr6:163930200-163934800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:163930400-163940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:163930400-163941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:163930600-163938000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:163930600-163943600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:163931000-163934800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:163931600-163934800	Weak transcription	Left Ventricle	heart
39	chr6:163933200-163935000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:163933200-163935200	Enhancers	Brain Anterior Caudate	brain
41	chr6:163933200-163935200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:163933400-163939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:163933800-163934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:163933800-163937800	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:163934000-163934800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:163934000-163935000	Flanking Active TSS	K562	blood
47	chr6:163934000-163935200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:163934000-163937800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:163934000-163939800	Enhancers	Fetal Heart	heart
50	chr6:163934200-163935200	Enhancers	A549	lung

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