Variant report

Variant	rs489691
Chromosome Location	chr11:75094907-75094908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75039334..75040388-chr11:75094767..75096197,10	K562	blood:
2	chr11:75094569..75097338-chr11:75239172..75241375,2	K562	blood:
3	chr11:74990481..74991855-chr11:75094739..75096203,15	MCF-7	breast:
4	chr11:75092274..75095773-chr11:75096854..75099923,3	K562	blood:
5	chr11:75062740..75066296-chr11:75093335..75097226,4	MCF-7	breast:
6	chr11:75090369..75092612-chr11:75094388..75097255,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11236417	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11236420	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12363921	0.86[ASN][1000 genomes]
rs3016302	0.90[ASN][1000 genomes]
rs3016304	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs473233	0.89[ASN][1000 genomes]
rs473961	0.90[ASN][1000 genomes]
rs475099	0.86[ASN][1000 genomes]
rs475161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs477625	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs477783	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs478777	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs515343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521455	0.91[ASN][1000 genomes]
rs532279	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536538	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs542784	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs542944	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs542994	0.81[CEU][hapmap]
rs546715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs552129	0.92[ASN][1000 genomes]
rs555875	1.00[JPT][hapmap]
rs566567	0.84[JPT][hapmap]
rs567647	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575781	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576508	0.89[ASN][1000 genomes]
rs580152	0.99[ASN][1000 genomes]
rs598062	0.92[ASN][1000 genomes]
rs598936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs613248	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs613690	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627133	0.89[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs629991	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs630429	0.82[ASN][1000 genomes]
rs646360	0.86[ASN][1000 genomes]
rs654079	0.88[ASN][1000 genomes]
rs663235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs672534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs686020	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr11:75081200-75095200	Weak transcription	Dnd41	blood
2	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
3	chr11:75087400-75099400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:75090400-75096000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:75091400-75096000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:75092000-75095400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:75092000-75098200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:75092000-75099400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:75092200-75095400	Weak transcription	Liver	Liver
10	chr11:75092200-75095400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:75092200-75095400	Weak transcription	Fetal Stomach	stomach
12	chr11:75092200-75095400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:75092200-75095400	Weak transcription	Hela-S3	cervix
14	chr11:75092200-75095600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:75092200-75098000	Weak transcription	HSMMtube	muscle
16	chr11:75092200-75099400	Weak transcription	Pancreas	Pancrea
17	chr11:75092400-75095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:75092400-75095400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:75092400-75095400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:75092400-75095400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:75092400-75095400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:75092400-75095400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:75092400-75095400	Weak transcription	K562	blood
24	chr11:75092400-75095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:75092400-75095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:75092400-75098400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:75092400-75099400	Weak transcription	Colonic Mucosa	Colon
28	chr11:75092400-75099400	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:75092400-75099400	Weak transcription	Spleen	Spleen
30	chr11:75092600-75095400	Weak transcription	Fetal Intestine Large	intestine
31	chr11:75092800-75095400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:75093000-75095400	Weak transcription	Fetal Intestine Small	intestine
33	chr11:75093000-75095600	Weak transcription	Stomach Mucosa	stomach
34	chr11:75093000-75098200	Weak transcription	Lung	lung
35	chr11:75093400-75095800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:75093400-75096000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:75093600-75095400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:75093600-75095600	Enhancers	Primary T cells from cord blood	blood
39	chr11:75093600-75095800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:75093600-75096000	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:75093600-75096000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:75093600-75096000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:75093600-75096000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr11:75093600-75096000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:75093800-75095800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:75094200-75095600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr11:75094200-75095600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr11:75094200-75095800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:75094200-75095800	Enhancers	A549	lung
50	chr11:75094200-75096000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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