Variant report

Variant	rs6952406
Chromosome Location	chr7:116560156-116560157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116555776..116557295-chr7:116558008..116560317,2	MCF-7	breast:
2	7:115890993-115892266..7:116559477-116562887	H1-hESC	embryonic stem cell:	embryo
3	7:115847372-115857098..7:116559477-116562887	GM12878	blood:
4	chr7:116557404..116561072-chr7:116567108..116571328,4	K562	blood:
5	7:116559477-116562887..7:116754962-116765597	GM12878	blood:
6	7:115861595-115870968..7:116559477-116562887	Hela-S3	cervix:
7	chr7:116558517..116560603-chr7:116609318..116611727,2	K562	blood:

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1060513	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1060514	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981133	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967466	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777997	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780748	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7786948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790214	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791219	0.80[AFR][1000 genomes]
rs7796146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:116543800-116561400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:116544000-116568600	Weak transcription	Fetal Brain Male	brain
7	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:116546200-116560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:116550000-116560800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:116550000-116562400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:116552000-116570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:116552400-116569000	Weak transcription	NHLF	lung
13	chr7:116553000-116561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:116553000-116561400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:116553200-116561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:116553200-116570600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:116553600-116563400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:116555200-116563200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:116555400-116560200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:116555400-116560400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:116555400-116562600	Weak transcription	Esophagus	oesophagus
22	chr7:116555400-116563200	Weak transcription	Pancreas	Pancrea
23	chr7:116555400-116568800	Weak transcription	Gastric	stomach
24	chr7:116555400-116570400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:116555600-116560800	Strong transcription	Liver	Liver
26	chr7:116556400-116562800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:116556800-116560200	Weak transcription	Spleen	Spleen
28	chr7:116556800-116562000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:116556800-116562200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:116556800-116564200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:116556800-116570600	Weak transcription	Aorta	Aorta
32	chr7:116557000-116561600	Weak transcription	Right Ventricle	heart
33	chr7:116557000-116562800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:116557000-116565000	Weak transcription	Left Ventricle	heart
35	chr7:116557000-116570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:116557000-116570800	Weak transcription	NHEK	skin
37	chr7:116557600-116562400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:116558000-116560200	Weak transcription	Fetal Intestine Large	intestine
39	chr7:116558000-116562400	Weak transcription	Psoas Muscle	Psoas
40	chr7:116558000-116562800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:116558000-116563000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:116558000-116564000	Weak transcription	Thymus	Thymus
43	chr7:116558000-116565400	Weak transcription	Fetal Stomach	stomach
44	chr7:116558000-116565800	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:116558000-116567600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:116558000-116570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:116558000-116570600	Weak transcription	Lung	lung
48	chr7:116558000-116570800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:116558200-116560400	Weak transcription	HSMMtube	muscle
50	chr7:116558200-116562400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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