Variant report

Variant	rs2811602
Chromosome Location	chr1:93324269-93324270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93324231..93325146-chr1:93527492..93528386,4	MCF-7	breast:
2	chr1:93324129..93325092-chr1:93459202..93460677,9	MCF-7	breast:
3	chr1:93323848..93325079-chr1:93527454..93528796,12	K562	blood:
4	chr1:93323714..93326556-chr1:93425052..93427620,3	MCF-7	breast:
5	chr1:93324254..93325157-chr1:93433569..93434414,3	MCF-7	breast:
6	chr1:93324140..93325063-chr1:93459344..93460476,14	MCF-7	breast:
7	chr1:93323615..93326108-chr1:93427081..93429012,2	K562	blood:
8	chr1:93322943..93324731-chr1:93454572..93457463,2	K562	blood:
9	chr1:93323949..93325580-chr1:93458442..93460738,42	K562	blood:
10	chr1:93324175..93325175-chr1:93425607..93427139,14	MCF-7	breast:
11	chr1:93323615..93326108-chr1:93427081..93429012,3	K562	blood:
12	chr1:93324135..93325204-chr1:93527740..93528408,3	MCF-7	breast:
13	chr1:93324004..93325373-chr1:93486850..93487700,5	K562	blood:
14	chr1:93324135..93324944-chr1:93460941..93461556,2	K562	blood:
15	chr1:93324139..93325155-chr1:93425615..93426899,9	MCF-7	breast:
16	chr1:93324229..93324906-chr1:93467195..93468089,2	K562	blood:
17	chr1:93324211..93324738-chr1:93433398..93434163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154511	Chromatin interaction

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs1017008	0.83[EUR][1000 genomes]
rs10218567	0.83[EUR][1000 genomes]
rs10218670	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs10493863	0.91[CHD][hapmap]
rs10735782	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs10735783	0.86[EUR][1000 genomes]
rs10735784	0.86[EUR][1000 genomes]
rs10747447	0.82[EUR][1000 genomes]
rs10747448	0.82[EUR][1000 genomes]
rs10747449	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs10747450	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs10747451	0.83[EUR][1000 genomes]
rs10747452	0.82[EUR][1000 genomes]
rs10782938	0.82[EUR][1000 genomes]
rs10782940	0.82[EUR][1000 genomes]
rs10782942	0.86[EUR][1000 genomes]
rs10782944	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10782945	0.84[CHD][hapmap]
rs10782946	0.84[CHD][hapmap]
rs10874728	0.82[EUR][1000 genomes]
rs10874729	0.82[EUR][1000 genomes]
rs10874730	0.82[EUR][1000 genomes]
rs10874731	0.82[EUR][1000 genomes]
rs10874742	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874744	0.91[CHD][hapmap]
rs10874746	0.84[CHD][hapmap]
rs11164790	0.81[EUR][1000 genomes]
rs11164799	0.85[EUR][1000 genomes]
rs11164804	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs11164805	0.86[EUR][1000 genomes]
rs11164806	0.84[EUR][1000 genomes]
rs11164808	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs11164809	0.86[EUR][1000 genomes]
rs11164812	0.89[EUR][1000 genomes]
rs11164813	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11164821	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164835	0.91[CHD][hapmap]
rs11164845	1.00[CHB][hapmap]
rs1182640	0.86[EUR][1000 genomes]
rs12029026	0.85[EUR][1000 genomes]
rs12045019	0.82[EUR][1000 genomes]
rs12066638	0.81[CHD][hapmap]
rs12745968	0.84[CHD][hapmap]
rs1337108	0.86[EUR][1000 genomes]
rs1337109	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1411706	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415294	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1415295	0.83[EUR][1000 genomes]
rs1467559	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1538029	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1610319	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1929138	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1932965	0.82[EUR][1000 genomes]
rs1932966	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1932967	0.86[EUR][1000 genomes]
rs1977224	0.81[EUR][1000 genomes]
rs1977227	0.85[ASN][1000 genomes]
rs1999819	0.83[EUR][1000 genomes]
rs2025100	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025101	0.86[EUR][1000 genomes]
rs2065916	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2065917	0.83[EUR][1000 genomes]
rs2077529	0.85[EUR][1000 genomes]
rs2097838	0.83[EUR][1000 genomes]
rs2107520	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2107521	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2158446	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2180977	0.86[EUR][1000 genomes]
rs2244005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244496	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs2244588	0.90[EUR][1000 genomes]
rs2255723	0.81[CHD][hapmap]
rs2263247	0.81[CHD][hapmap]
rs2298912	0.86[EUR][1000 genomes]
rs2391177	0.81[CHD][hapmap]
rs2391179	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2391193	0.85[ASN][1000 genomes]
rs2391194	0.86[EUR][1000 genomes]
rs2391196	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2391199	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2391200	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs2391201	0.83[EUR][1000 genomes]
rs2481713	0.81[CHD][hapmap]
rs2774940	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774941	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2774943	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774947	1.00[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811593	0.81[CHD][hapmap]
rs2811599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811600	0.81[CHD][hapmap]
rs2989014	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054144	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3790445	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3790446	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3936946	0.82[EUR][1000 genomes]
rs4000726	0.82[EUR][1000 genomes]
rs4000727	0.81[EUR][1000 genomes]
rs4120650	0.82[EUR][1000 genomes]
rs4240962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4264007	0.86[EUR][1000 genomes]
rs4417075	0.82[EUR][1000 genomes]
rs4525050	0.86[EUR][1000 genomes]
rs4638137	0.86[EUR][1000 genomes]
rs4642893	0.81[EUR][1000 genomes]
rs4847217	0.86[EUR][1000 genomes]
rs4847221	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4847222	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847247	0.82[EUR][1000 genomes]
rs4847266	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4847285	0.86[EUR][1000 genomes]
rs4847304	0.86[EUR][1000 genomes]
rs4847309	0.86[EUR][1000 genomes]
rs4847310	0.86[EUR][1000 genomes]
rs4847363	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4847370	0.89[CEU][hapmap];0.91[GIH][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs4847427	0.82[EUR][1000 genomes]
rs6604000	0.82[EUR][1000 genomes]
rs6604003	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs6604004	0.83[EUR][1000 genomes]
rs6604006	0.81[EUR][1000 genomes]
rs6604010	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6604012	0.86[EUR][1000 genomes]
rs6604015	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6604018	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6604022	0.86[EUR][1000 genomes]
rs6604025	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659942	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6660296	0.86[EUR][1000 genomes]
rs6661600	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6665579	0.86[EUR][1000 genomes]
rs6669914	0.85[EUR][1000 genomes]
rs6671421	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs6676454	0.86[EUR][1000 genomes]
rs6679839	0.83[EUR][1000 genomes]
rs6685705	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6687803	0.82[EUR][1000 genomes]
rs6687994	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6693371	0.89[EUR][1000 genomes]
rs6696636	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs6698233	0.81[CHD][hapmap]
rs6703467	0.89[CEU][hapmap]
rs723909	0.86[EUR][1000 genomes]
rs72728629	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7416169	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7513624	0.85[ASN][1000 genomes]
rs7513815	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7514716	0.82[EUR][1000 genomes]
rs7515257	0.91[CHD][hapmap]
rs7516141	0.89[CEU][hapmap]
rs7521345	0.86[EUR][1000 genomes]
rs7526582	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7527356	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7527835	0.83[EUR][1000 genomes]
rs7529332	0.82[EUR][1000 genomes]
rs7529630	0.82[EUR][1000 genomes]
rs7532731	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7536563	0.84[CHD][hapmap]
rs7538520	0.82[EUR][1000 genomes]
rs7540407	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7541829	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7542608	0.84[CHD][hapmap]
rs7543077	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543112	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543327	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7543964	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs7549844	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs7551340	0.82[EUR][1000 genomes]
rs7551880	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs7552085	0.86[EUR][1000 genomes]
rs7554183	0.82[EUR][1000 genomes]
rs7554868	0.86[EUR][1000 genomes]
rs757469	0.86[EUR][1000 genomes]
rs914064	0.83[EUR][1000 genomes]
rs927339	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs932637	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs9439917	0.82[EUR][1000 genomes]
rs9439920	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9439924	0.89[EUR][1000 genomes]
rs945724	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs9651257	0.91[CHD][hapmap]
rs9662515	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs976208	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs976209	0.86[EUR][1000 genomes]
rs980940	0.86[EUR][1000 genomes]

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	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
2	chr1:93306800-93324800	Weak transcription	Pancreas	Pancrea
3	chr1:93307000-93324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:93308000-93324600	Weak transcription	Psoas Muscle	Psoas
5	chr1:93309400-93324800	Weak transcription	NHDF-Ad	bronchial
6	chr1:93309600-93324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:93309800-93324400	Weak transcription	A549	lung
8	chr1:93309800-93324400	Weak transcription	Osteobl	bone
9	chr1:93309800-93342400	Weak transcription	NHLF	lung
10	chr1:93310000-93324800	Weak transcription	HSMMtube	muscle
11	chr1:93310200-93324600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:93310400-93324400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:93310400-93324800	Weak transcription	Left Ventricle	heart
14	chr1:93314400-93338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:93316000-93342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:93316200-93324400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:93316200-93324800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:93316200-93338200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:93316200-93338400	Weak transcription	Fetal Stomach	stomach
20	chr1:93316800-93324600	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:93317400-93324600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:93318200-93324600	Weak transcription	NHEK	skin
23	chr1:93318600-93338200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:93319400-93327800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:93320200-93324400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:93320200-93324600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:93320400-93324600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:93320400-93324600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:93320400-93329400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:93320400-93342000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:93320600-93324600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:93320600-93329400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:93321200-93324400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:93322800-93324600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:93323000-93324400	Enhancers	Fetal Intestine Small	intestine
36	chr1:93323000-93324400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:93323000-93324600	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:93323200-93325000	Enhancers	Fetal Intestine Large	intestine
39	chr1:93323200-93325200	Enhancers	Liver	Liver
40	chr1:93323400-93324400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:93323800-93324400	Enhancers	Primary T cells from cord blood	blood
42	chr1:93323800-93324400	Weak transcription	HepG2	liver
43	chr1:93324200-93324400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:93324200-93324400	Enhancers	Thymus	Thymus
45	chr1:93324200-93324600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:93324200-93324600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:93324200-93324600	Enhancers	Brain Angular Gyrus	brain
48	chr1:93324200-93324600	Enhancers	Brain Anterior Caudate	brain
49	chr1:93324200-93324600	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:93324200-93324600	Enhancers	Brain Inferior Temporal Lobe	brain

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