Variant report

Variant	rs7103982
Chromosome Location	chr11:120397775-120397776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120395943..120398129-chr11:120408243..120411100,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs34160337	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35187805	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3897570	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385905	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900865	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900866	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900867	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900868	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900870	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900871	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900873	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900874	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900875	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900876	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900877	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900894	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71484175	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484176	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484177	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484178	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73008710	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120388400-120397800	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120388800-120403400	Weak transcription	Right Atrium	heart
3	chr11:120394200-120398000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:120394200-120398000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:120394400-120397800	Weak transcription	Ovary	ovary
6	chr11:120394400-120398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:120394600-120397800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:120394600-120397800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:120394800-120397800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:120395000-120398400	Enhancers	Fetal Intestine Large	intestine
11	chr11:120395000-120399000	Weak transcription	Spleen	Spleen
12	chr11:120395400-120397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:120395400-120397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120395600-120399000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:120396400-120398400	Enhancers	Fetal Intestine Small	intestine
16	chr11:120396400-120398600	Enhancers	Fetal Lung	lung
17	chr11:120396800-120398000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:120397200-120398800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:120397400-120397800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:120397400-120398200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:120397400-120398200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:120397400-120398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:120397400-120398800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:120397600-120397800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:120397600-120397800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:120397600-120398000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:120397600-120398000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:120397600-120398200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:120397600-120398200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:120397600-120398200	Bivalent Enhancer	Osteobl	bone
31	chr11:120397600-120398400	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:120397600-120398400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr11:120397600-120398400	Enhancers	NH-A	brain
34	chr11:120397600-120398400	Enhancers	NHLF	lung
35	chr11:120397600-120398600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:120397600-120398600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:120397600-120398600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:120397600-120398600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:120397600-120398600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:120397600-120398600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:120397600-120398600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:120397600-120398600	Enhancers	Brain Anterior Caudate	brain
43	chr11:120397600-120398600	Enhancers	HSMMtube	muscle
44	chr11:120397600-120398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:120397600-120398800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:120397600-120398800	Enhancers	Fetal Muscle Leg	muscle

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