Variant report

Variant	rs11164843
Chromosome Location	chr1:93416142-93416143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93414535..93417259-chr1:93426567..93429349,2	MCF-7	breast:
2	chr1:93296392..93298300-chr1:93415354..93417007,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000154511	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10493863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782945	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10782946	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874744	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10874746	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10874747	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874753	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11164830	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164840	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164842	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164844	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164845	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11423955	0.92[ASN][1000 genomes]
rs11577636	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11578986	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11583491	0.86[EUR][1000 genomes]
rs11587920	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12060952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12065253	0.80[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069727	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12074608	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081675	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12745968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1360366	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17380908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2263247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481711	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481712	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481714	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2492292	0.82[AMR][1000 genomes]
rs2492293	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2492294	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774945	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774946	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2774949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774950	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774952	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2774953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2774954	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774955	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2774956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811589	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811590	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811591	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811594	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811596	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811597	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811598	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2811600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893225	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34084844	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389767	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398175	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35367625	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35807969	0.86[EUR][1000 genomes]
rs4300228	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4308991	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4351651	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4420089	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450029	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561051	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4592265	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4847223	0.84[AMR][1000 genomes]
rs4847378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4847384	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56193705	0.86[EUR][1000 genomes]
rs6604028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6604029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6604030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6604031	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666223	0.82[EUR][1000 genomes]
rs6694051	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697543	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6698082	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698179	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700585	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7417198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7515257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7517935	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7536563	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7542608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7543548	0.85[EUR][1000 genomes]
rs7550347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7550660	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9439948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9440127	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9440134	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93400400-93416600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:93400800-93421800	Weak transcription	Fetal Lung	lung
3	chr1:93409200-93421200	Weak transcription	Fetal Brain Female	brain
4	chr1:93409600-93426000	Weak transcription	Lung	lung
5	chr1:93410600-93425600	Weak transcription	Aorta	Aorta
6	chr1:93410600-93425800	Weak transcription	Right Atrium	heart
7	chr1:93410600-93426000	Weak transcription	Left Ventricle	heart
8	chr1:93410800-93416600	Weak transcription	Thymus	Thymus
9	chr1:93411000-93422000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:93411000-93425800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:93411400-93416400	Enhancers	Primary B cells from cord blood	blood
12	chr1:93411400-93416600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:93411400-93416800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:93411400-93416800	Weak transcription	Psoas Muscle	Psoas
15	chr1:93412400-93422000	Weak transcription	Liver	Liver
16	chr1:93413200-93417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:93413600-93425600	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:93415000-93416600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:93415000-93416600	Enhancers	HepG2	liver
20	chr1:93415000-93417600	Enhancers	HMEC	breast
21	chr1:93415000-93419600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:93415200-93416200	Enhancers	Stomach Mucosa	stomach
23	chr1:93415200-93416600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr1:93415200-93416600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:93415200-93416800	Enhancers	K562	blood
26	chr1:93415200-93417000	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:93415200-93417200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:93415200-93417200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:93415200-93417800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:93415200-93418200	Enhancers	Brain Hippocampus Middle	brain
31	chr1:93415200-93419400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:93415200-93419800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:93415200-93419800	Flanking Active TSS	GM12878-XiMat	blood
34	chr1:93415200-93420000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:93415200-93425600	Enhancers	Primary T cells from cord blood	blood
36	chr1:93415200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:93415200-93425600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:93415200-93425600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:93415400-93416200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:93415400-93416400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr1:93415400-93416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:93415400-93416600	Enhancers	Dnd41	blood
43	chr1:93415400-93416600	Enhancers	NHLF	lung
44	chr1:93415400-93416600	Enhancers	Osteobl	bone
45	chr1:93415400-93416800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:93415400-93417000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:93415400-93417000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:93415400-93417200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:93415400-93417200	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:93415400-93417200	Enhancers	Fetal Intestine Large	intestine

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