Variant report

Variant	rs11976444
Chromosome Location	chr7:39760537-39760538
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39630501..39633434-chr7:39759020..39762831,5	K562	blood:
2	chr7:39760057..39765659-chr7:39765782..39774778,12	K562	blood:
3	chr7:39716806..39718805-chr7:39760155..39761984,2	K562	blood:
4	chr7:39697844..39699829-chr7:39759514..39761645,2	K562	blood:
5	chr7:39663291..39665233-chr7:39760119..39761834,2	K562	blood:
6	chr10:99256788..99259033-chr7:39760134..39761993,2	K562	blood:
7	chr7:39747835..39755058-chr7:39757872..39764388,13	K562	blood:
8	chr7:39678848..39680622-chr7:39760404..39763010,2	K562	blood:
9	chr7:39732340..39735300-chr7:39760265..39762340,2	K562	blood:
10	chr7:39661377..39663200-chr7:39760354..39762194,2	K562	blood:
11	chr7:39660254..39665233-chr7:39756811..39764394,13	K562	blood:
12	chr7:39759344..39763475-chr7:39764953..39775706,19	K562	blood:
13	chr7:39760407..39761969-chr7:39866612..39869320,2	K562	blood:
14	chr7:39604771..39607441-chr7:39760385..39762790,2	K562	blood:
15	chr7:39745397..39755065-chr7:39757582..39762895,14	K562	blood:
16	chr7:39728709..39730955-chr7:39759969..39761928,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165886	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000241127	Chromatin interaction
ENSG00000227172	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000188185	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11973533	1.00[AFR][1000 genomes]
rs11976400	0.82[AFR][1000 genomes]
rs11979241	0.92[AFR][1000 genomes]
rs11981716	0.92[AFR][1000 genomes]
rs11982125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11982740	1.00[AFR][1000 genomes]
rs57770125	0.89[AFR][1000 genomes]
rs59463295	0.92[AFR][1000 genomes]
rs59642583	1.00[AMR][1000 genomes]
rs59829073	0.92[AFR][1000 genomes]
rs59987676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61239015	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39758600-39761000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr7:39758600-39761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:39758600-39761400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:39758800-39760800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:39759200-39760800	Enhancers	Fetal Kidney	kidney
6	chr7:39759200-39761200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:39759200-39761200	Enhancers	Fetal Intestine Large	intestine
8	chr7:39759400-39761200	Enhancers	Stomach Mucosa	stomach
9	chr7:39759400-39761800	Enhancers	Placenta	Placenta
10	chr7:39759600-39761000	Enhancers	HMEC	breast
11	chr7:39759600-39761200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:39759600-39761200	Enhancers	Colonic Mucosa	Colon
13	chr7:39759800-39761000	Enhancers	HSMM	muscle
14	chr7:39759800-39761200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:39759800-39761200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:39759800-39761200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:39759800-39761200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:39759800-39761200	Enhancers	Fetal Intestine Small	intestine
19	chr7:39759800-39761200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:39759800-39761200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:39760000-39761000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:39760000-39761000	Enhancers	HSMMtube	muscle
23	chr7:39760000-39761800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:39760000-39761800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:39760200-39761000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:39760200-39761200	Enhancers	Osteobl	bone
27	chr7:39760400-39760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:39760400-39760600	Enhancers	K562	blood
29	chr7:39760400-39760800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr7:39760400-39760800	Enhancers	HepG2	liver
31	chr7:39760400-39761000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:39760400-39761200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:39760400-39761200	Enhancers	NHEK	skin

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