Variant report

Variant	rs1411706
Chromosome Location	chr1:93320134-93320135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93317857..93320698-chr1:93436482..93438159,2	MCF-7	breast:
2	chr1:93317754..93320397-chr1:93457580..93459543,2	K562	blood:
3	chr1:93305489..93308255-chr1:93319835..93322646,2	K562	blood:

Variant related genes	Relation type
ENSG00000207523	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs1017008	0.83[EUR][1000 genomes]
rs10218567	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10218670	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10735782	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10735783	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10735784	0.86[EUR][1000 genomes]
rs10747447	0.82[EUR][1000 genomes]
rs10747448	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10747449	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10747450	1.00[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	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874721	0.82[EUR][1000 genomes]
rs10874728	0.82[EUR][1000 genomes]
rs10874729	0.82[EUR][1000 genomes]
rs10874730	0.82[EUR][1000 genomes]
rs10874731	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10874742	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164790	0.81[EUR][1000 genomes]
rs11164799	0.85[EUR][1000 genomes]
rs11164804	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11164805	0.86[EUR][1000 genomes]
rs11164806	0.84[EUR][1000 genomes]
rs11164808	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11164809	0.86[EUR][1000 genomes]
rs11164812	0.89[EUR][1000 genomes]
rs11164813	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11164821	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164845	1.00[CHB][hapmap]
rs1182640	0.86[EUR][1000 genomes]
rs12029026	0.85[EUR][1000 genomes]
rs12045019	0.82[EUR][1000 genomes]
rs1337108	0.86[EUR][1000 genomes]
rs1337109	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1415294	1.00[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	1.00[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	1.00[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	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025101	0.86[EUR][1000 genomes]
rs2065916	1.00[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	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2107521	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2158446	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2180977	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2244005	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2244588	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2298912	0.86[EUR][1000 genomes]
rs2391179	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2391193	0.85[ASN][1000 genomes]
rs2391194	0.86[EUR][1000 genomes]
rs2391196	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2391199	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2391200	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2391201	0.83[EUR][1000 genomes]
rs2774940	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2774943	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774947	0.89[CEU][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811599	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811602	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989014	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054144	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3790445	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3790446	1.00[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	0.80[CEU][hapmap];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	0.89[CEU][hapmap];1.00[CHB][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	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4847266	1.00[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	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4847370	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4847427	0.82[EUR][1000 genomes]
rs6604000	0.82[EUR][1000 genomes]
rs6604003	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6604004	0.83[EUR][1000 genomes]
rs6604006	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6604010	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6604012	0.86[EUR][1000 genomes]
rs6604015	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6604018	1.00[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	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6660296	0.86[EUR][1000 genomes]
rs6661600	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6665579	0.86[EUR][1000 genomes]
rs6669914	0.85[EUR][1000 genomes]
rs6671421	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6676454	0.86[EUR][1000 genomes]
rs6679839	0.83[EUR][1000 genomes]
rs6685705	1.00[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	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6703467	1.00[CEU][hapmap]
rs723909	0.86[EUR][1000 genomes]
rs72728629	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7416169	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7513624	0.85[ASN][1000 genomes]
rs7513815	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7514716	0.82[EUR][1000 genomes]
rs7516141	1.00[CEU][hapmap]
rs7521345	0.86[EUR][1000 genomes]
rs7526582	1.00[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	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7538520	0.82[EUR][1000 genomes]
rs7540407	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7541829	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543077	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543112	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543327	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7543964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs7549844	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7551340	0.82[EUR][1000 genomes]
rs7551880	1.00[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	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs932637	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9439917	0.82[EUR][1000 genomes]
rs9439920	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9439924	0.89[EUR][1000 genomes]
rs945724	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9633481	0.82[EUR][1000 genomes]
rs9662515	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs976208	1.00[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:67 , 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	chr1:93308000-93323400	Weak transcription	Small Intestine	intestine
5	chr1:93308000-93324600	Weak transcription	Psoas Muscle	Psoas
6	chr1:93309400-93324800	Weak transcription	NHDF-Ad	bronchial
7	chr1:93309600-93324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:93309800-93324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:93309800-93324400	Weak transcription	A549	lung
10	chr1:93309800-93324400	Weak transcription	Osteobl	bone
11	chr1:93309800-93342400	Weak transcription	NHLF	lung
12	chr1:93310000-93324200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:93310000-93324200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:93310000-93324800	Weak transcription	HSMMtube	muscle
15	chr1:93310200-93320200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:93310200-93323600	Weak transcription	HepG2	liver
17	chr1:93310200-93324600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:93310400-93324200	Weak transcription	Fetal Thymus	thymus
19	chr1:93310400-93324400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:93310400-93324800	Weak transcription	Left Ventricle	heart
21	chr1:93311000-93323200	Weak transcription	Liver	Liver
22	chr1:93311600-93324200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:93312200-93320800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:93313600-93324200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:93314400-93338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:93316000-93342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:93316200-93322800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:93316200-93324200	Weak transcription	Thymus	Thymus
29	chr1:93316200-93324400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:93316200-93324800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:93316200-93338200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:93316200-93338400	Weak transcription	Fetal Stomach	stomach
33	chr1:93316600-93324200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:93316600-93324200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:93316800-93323400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:93316800-93324600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:93317200-93320600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:93317400-93324600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:93317600-93320600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:93318200-93324600	Weak transcription	NHEK	skin
41	chr1:93318400-93320400	Enhancers	K562	blood
42	chr1:93318400-93320800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:93318400-93323800	Weak transcription	Dnd41	blood
44	chr1:93318600-93320400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:93318600-93324200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:93318600-93324200	Weak transcription	Brain Anterior Caudate	brain
47	chr1:93318600-93338200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:93319000-93320400	Enhancers	Fetal Intestine Small	intestine
49	chr1:93319000-93323800	Weak transcription	Primary T cells from cord blood	blood
50	chr1:93319200-93321600	Enhancers	Placenta	Placenta

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