Variant report

Variant	rs7796231
Chromosome Location	chr7:101706691-101706692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101705153..101708097-chr7:101711212..101713863,3	K562	blood:
2	chr7:101459264..101462006-chr7:101705742..101707719,3	MCF-7	breast:
3	chr7:101706528..101709517-chr7:101721356..101724154,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

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

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

rs_ID	r²[population]
rs382270	0.85[EUR][1000 genomes]
rs388781	0.86[EUR][1000 genomes]
rs391234	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs392438	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs401301	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs401966	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs411656	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs421168	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs424478	0.89[EUR][1000 genomes]
rs425934	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs436483	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs450854	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:101674200-101707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:101688600-101707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
5	chr7:101689800-101714800	Weak transcription	NHLF	lung
6	chr7:101690600-101713800	Weak transcription	Fetal Lung	lung
7	chr7:101690600-101713800	Weak transcription	Ovary	ovary
8	chr7:101694400-101707200	Weak transcription	Right Atrium	heart
9	chr7:101694800-101707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:101697600-101711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:101697800-101709800	Weak transcription	Thymus	Thymus
12	chr7:101697800-101711800	Weak transcription	HepG2	liver
13	chr7:101698000-101712000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:101699800-101712000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:101700000-101707200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:101700000-101713800	Weak transcription	Aorta	Aorta
17	chr7:101700200-101707000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:101703800-101707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:101703800-101713400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:101704200-101712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:101704800-101706800	Enhancers	Hela-S3	cervix
22	chr7:101704800-101707800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:101704800-101708800	Enhancers	Placenta	Placenta
24	chr7:101705200-101708600	Enhancers	Fetal Heart	heart
25	chr7:101705400-101707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:101705400-101707000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:101705400-101707000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:101705400-101707200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:101705400-101707600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:101705400-101712400	Weak transcription	Primary B cells from cord blood	blood
31	chr7:101705600-101706800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:101705600-101707000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:101705600-101707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:101705600-101707000	Weak transcription	Left Ventricle	heart
35	chr7:101705600-101707000	Weak transcription	Right Ventricle	heart
36	chr7:101705600-101707200	Weak transcription	Spleen	Spleen
37	chr7:101705600-101709800	Weak transcription	Dnd41	blood
38	chr7:101705600-101713800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:101705600-101714800	Weak transcription	Fetal Kidney	kidney
40	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
41	chr7:101705800-101707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:101705800-101707000	Weak transcription	Lung	lung
43	chr7:101705800-101707000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:101705800-101707200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:101705800-101707200	Weak transcription	NH-A	brain
46	chr7:101705800-101707800	Enhancers	GM12878-XiMat	blood
47	chr7:101705800-101713200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:101706000-101707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:101706000-101707000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:101706000-101707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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