Variant report

Variant	rs568775562
Chromosome Location	chr7:40095586-40095587
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	chr7:40093916..40096892-chr7:40098882..40101191,2	K562	blood:
2	chr7:40090602..40093136-chr7:40095056..40097125,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
12	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
2	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
3	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:40044400-40096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:40048000-40102400	Weak transcription	HMEC	breast
7	chr7:40048000-40102400	Weak transcription	NHEK	skin
8	chr7:40049000-40096200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:40055600-40126400	Weak transcription	Aorta	Aorta
10	chr7:40055800-40097000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:40055800-40102400	Weak transcription	NHLF	lung
12	chr7:40055800-40110000	Weak transcription	Gastric	stomach
13	chr7:40055800-40127600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:40055800-40127600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:40056000-40097000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:40056000-40097800	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:40056000-40097800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:40056000-40105400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:40056000-40112200	Weak transcription	HepG2	liver
20	chr7:40056200-40128600	Weak transcription	A549	lung
21	chr7:40058400-40101800	Weak transcription	Fetal Brain Male	brain
22	chr7:40058600-40126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:40059000-40125200	Weak transcription	Fetal Kidney	kidney
24	chr7:40060200-40102400	Weak transcription	NHDF-Ad	bronchial
25	chr7:40060400-40098800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:40067400-40096000	Weak transcription	NH-A	brain
27	chr7:40067600-40096800	Weak transcription	Left Ventricle	heart
28	chr7:40067800-40095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:40070600-40104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:40072000-40096000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:40072000-40098800	Weak transcription	Ovary	ovary
32	chr7:40072000-40104000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:40072000-40130400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:40072600-40101000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:40074000-40097000	Weak transcription	Right Atrium	heart
36	chr7:40074000-40102600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:40074600-40097000	Weak transcription	Adipose Nuclei	Adipose
38	chr7:40075200-40096000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:40075800-40096600	Weak transcription	Lung	lung
40	chr7:40075800-40102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:40076200-40102400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:40076200-40106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:40076400-40096000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:40077200-40098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:40077200-40102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:40077200-40102600	Weak transcription	GM12878-XiMat	blood
47	chr7:40077200-40127800	Weak transcription	Esophagus	oesophagus
48	chr7:40077400-40096200	Weak transcription	HSMM	muscle
49	chr7:40080200-40132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:40082000-40127800	Weak transcription	Pancreas	Pancrea

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