Variant report

Variant	rs185040648
Chromosome Location	chr1:220437932-220437933
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	chr1:220437133..220439238-chr1:220458442..220459950,2	K562	blood:
2	chr1:220415384..220417325-chr1:220437558..220439400,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
4	esv3452704	chr1:220436224-220441007	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3452705	chr1:220436262-220440993	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3452706	chr1:220436374-220440886	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv826675	chr1:220436941-220439664	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
2	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
3	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
4	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:220423800-220442600	Weak transcription	Hela-S3	cervix
8	chr1:220424400-220439600	Weak transcription	HMEC	breast
9	chr1:220425200-220443400	Weak transcription	HUVEC	blood vessel
10	chr1:220426200-220440200	Weak transcription	Gastric	stomach
11	chr1:220426200-220441800	Weak transcription	Small Intestine	intestine
12	chr1:220426400-220439600	Weak transcription	HSMMtube	muscle
13	chr1:220426600-220439000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220426600-220439800	Weak transcription	NHEK	skin
15	chr1:220426600-220440000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:220426600-220440200	Weak transcription	NHLF	lung
17	chr1:220426600-220440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:220426600-220443400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:220426600-220443400	Weak transcription	Right Ventricle	heart
20	chr1:220426600-220444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:220426800-220438600	Weak transcription	HSMM	muscle
22	chr1:220426800-220438800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:220426800-220438800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:220426800-220439000	Weak transcription	Adipose Nuclei	Adipose
25	chr1:220426800-220439200	Weak transcription	NH-A	brain
26	chr1:220426800-220439400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:220426800-220439600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:220426800-220439800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:220426800-220440000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:220426800-220440000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:220426800-220440000	Weak transcription	Placenta	Placenta
32	chr1:220426800-220441800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:220426800-220441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:220426800-220442800	Weak transcription	Esophagus	oesophagus
35	chr1:220426800-220443400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:220426800-220443400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:220426800-220443400	Weak transcription	Ovary	ovary
38	chr1:220426800-220444000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:220426800-220444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:220426800-220444400	Weak transcription	Colonic Mucosa	Colon
41	chr1:220426800-220445000	Weak transcription	Aorta	Aorta
42	chr1:220426800-220445000	Weak transcription	Pancreas	Pancrea
43	chr1:220427000-220439000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:220427000-220439000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:220427000-220439000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:220427000-220439800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:220427000-220441400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:220427000-220442800	Weak transcription	Lung	lung
49	chr1:220427000-220443200	Weak transcription	Thymus	Thymus
50	chr1:220427000-220444200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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