Variant report

Variant	rs41696
Chromosome Location	chr7:120636367-120636368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120635913..120636486-chr7:120747716..120748711,2	K562	blood:
2	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
3	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10245811	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11976117	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12666371	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12671499	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673175	0.85[AFR][1000 genomes]
rs16870531	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41699	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41700	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41701	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41705	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730984	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62470917	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7782014	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7802570	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7802665	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120630000-120636400	Weak transcription	HMEC	breast
2	chr7:120631200-120640400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:120632000-120636400	Weak transcription	Hela-S3	cervix
4	chr7:120632200-120636600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:120632400-120641400	Transcr. at gene 5' and 3'	K562	blood
6	chr7:120633000-120636600	Weak transcription	HSMMtube	muscle
7	chr7:120633000-120636800	Enhancers	Liver	Liver
8	chr7:120633000-120636800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:120633200-120636400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:120633600-120636600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:120633600-120636800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:120634000-120636400	Weak transcription	Stomach Mucosa	stomach
13	chr7:120634000-120637400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:120634200-120636800	Weak transcription	NH-A	brain
15	chr7:120634200-120644000	Weak transcription	Spleen	Spleen
16	chr7:120634600-120636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:120634600-120638400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:120634800-120636800	Weak transcription	Right Atrium	heart
19	chr7:120634800-120636800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:120634800-120637000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:120634800-120637200	Weak transcription	NHLF	lung
22	chr7:120634800-120637800	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:120635000-120636400	Weak transcription	Small Intestine	intestine
24	chr7:120635000-120636600	Weak transcription	Fetal Kidney	kidney
25	chr7:120635000-120637400	Enhancers	Aorta	Aorta
26	chr7:120635000-120640800	Enhancers	Dnd41	blood
27	chr7:120635200-120636800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:120635200-120637200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:120635200-120637200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:120635200-120638600	Weak transcription	Ovary	ovary
31	chr7:120635400-120636400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:120635400-120637600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:120635800-120636400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:120635800-120637200	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:120635800-120637200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:120635800-120637400	Enhancers	Primary B cells from cord blood	blood
37	chr7:120635800-120637400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:120635800-120639800	Enhancers	Colon Smooth Muscle	Colon
39	chr7:120636000-120637000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:120636000-120637200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:120636000-120637200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:120636000-120638200	Enhancers	Left Ventricle	heart
43	chr7:120636000-120639600	Enhancers	Fetal Stomach	stomach
44	chr7:120636000-120639600	Enhancers	NHDF-Ad	bronchial
45	chr7:120636200-120636400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:120636200-120636400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:120636200-120636400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:120636200-120636400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr7:120636200-120636400	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:120636200-120636800	Enhancers	Rectal Smooth Muscle	rectum

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