Variant report

Variant	rs11125992
Chromosome Location	chr2:64435942-64435943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10496110	0.82[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11125993	0.88[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125994	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11688386	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13399701	0.88[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1370388	0.80[CHD][hapmap];0.88[GIH][hapmap]
rs2164734	0.85[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs3731961	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1004574	chr2:64360195-64478171	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv874237	chr2:64402689-64479060	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64416800-64438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:64424400-64440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64425200-64436400	Weak transcription	K562	blood
4	chr2:64431600-64438800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:64431600-64440000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:64431600-64441000	Weak transcription	Esophagus	oesophagus
7	chr2:64431600-64446800	Weak transcription	Left Ventricle	heart
8	chr2:64431800-64438600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:64431800-64441000	Weak transcription	Right Atrium	heart
10	chr2:64432000-64436000	Enhancers	GM12878-XiMat	blood
11	chr2:64432000-64437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:64432000-64437400	Weak transcription	NHEK	skin
13	chr2:64432000-64441600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:64432200-64438800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:64432200-64440000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:64432200-64441000	Weak transcription	Brain Substantia Nigra	brain
17	chr2:64432400-64436200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:64432400-64437400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:64432400-64438200	Weak transcription	Spleen	Spleen
20	chr2:64432400-64438800	Weak transcription	Thymus	Thymus
21	chr2:64432400-64440000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:64432400-64440800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:64432400-64441200	Weak transcription	Fetal Lung	lung
24	chr2:64432800-64436400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:64432800-64437800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:64432800-64438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:64432800-64439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:64432800-64440200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:64432800-64441200	Weak transcription	Fetal Kidney	kidney
30	chr2:64433000-64438000	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:64433000-64438200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:64433000-64438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:64433000-64440400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:64433000-64441000	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:64433200-64437800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:64433200-64439000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:64434000-64436000	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:64434200-64436000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:64434200-64436000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:64434600-64437600	Weak transcription	Fetal Thymus	thymus
41	chr2:64435000-64436000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr2:64435000-64436400	Weak transcription	Primary T cells from cord blood	blood
43	chr2:64435000-64438600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:64435000-64439000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:64435400-64437600	Weak transcription	Primary B cells from cord blood	blood
46	chr2:64435400-64439200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:64435600-64438000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:64435600-64438600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:64435800-64436000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:64435800-64436000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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