Variant report

Variant	rs10911637
Chromosome Location	chr1:184671909-184671910
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184670636..184673038-chr1:184723688..184726485,2	MCF-7	breast:
2	chr1:184669558..184672098-chr1:184694218..184695882,2	K562	blood:
3	chr1:184665706..184667589-chr1:184670259..184672782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489698	0.87[CEU][hapmap]
rs10797985	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911628	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12060621	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067111	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079454	0.83[AFR][1000 genomes]
rs12094196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096214	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16823421	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16823429	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2224092	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35779894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.81[AFR][1000 genomes]
rs489435	1.00[JPT][hapmap]
rs538337	1.00[JPT][hapmap]
rs55760657	0.88[AMR][1000 genomes]
rs55896922	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56741490	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs569243	1.00[JPT][hapmap]
rs58465130	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59085958	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59347366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59634722	0.88[AMR][1000 genomes]
rs59862212	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs603160	1.00[JPT][hapmap]
rs61022402	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823870	0.94[AMR][1000 genomes]
rs61823871	0.94[AMR][1000 genomes]
rs61823873	0.94[AMR][1000 genomes]
rs61823876	0.88[AMR][1000 genomes]
rs61823879	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61823880	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823882	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823885	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823891	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823908	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs641658	1.00[JPT][hapmap]
rs642027	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184641400-184672800	Weak transcription	Gastric	stomach
2	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:184654200-184672000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
6	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
7	chr1:184654400-184675400	Weak transcription	Pancreas	Pancrea
8	chr1:184654600-184672400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:184656000-184672000	Weak transcription	HepG2	liver
10	chr1:184656400-184672800	Weak transcription	Spleen	Spleen
11	chr1:184656600-184684000	Weak transcription	Fetal Heart	heart
12	chr1:184657000-184672600	Weak transcription	Lung	lung
13	chr1:184657200-184672800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:184657400-184672800	Weak transcription	Fetal Stomach	stomach
15	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:184659000-184672600	Weak transcription	Aorta	Aorta
17	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:184659400-184676800	Weak transcription	Fetal Brain Male	brain
19	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:184660800-184680400	Weak transcription	Right Ventricle	heart
21	chr1:184661000-184678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:184661200-184690400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:184661400-184678600	Strong transcription	Liver	Liver
26	chr1:184661400-184690400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:184661600-184672800	Weak transcription	Small Intestine	intestine
28	chr1:184661600-184693200	Strong transcription	Dnd41	blood
29	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
32	chr1:184663200-184672800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:184663200-184672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:184663200-184676600	Weak transcription	NHEK	skin
35	chr1:184663400-184672000	Weak transcription	Colonic Mucosa	Colon
36	chr1:184663400-184672600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:184663400-184672800	Weak transcription	Ovary	ovary
38	chr1:184663400-184674400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:184663600-184672600	Weak transcription	Left Ventricle	heart
40	chr1:184663600-184674200	Weak transcription	Brain Germinal Matrix	brain
41	chr1:184663600-184679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:184665200-184672000	Weak transcription	NHLF	lung
43	chr1:184665200-184683800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:184665600-184687600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:184665600-184700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:184665800-184672800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:184665800-184675200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:184666000-184678400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:184666000-184691400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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