Variant report

Variant	rs538873572
Chromosome Location	chr1:220870741-220870742
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	chr1:220869909..220871487-chr1:220872006..220873594,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv945303	chr1:220870489-220871170	Genic enhancers Strong transcription Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220865200-220873200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:220865200-220874200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:220865200-220879200	Weak transcription	Ovary	ovary
4	chr1:220865400-220870800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:220865400-220873200	Weak transcription	Fetal Brain Female	brain
6	chr1:220865400-220873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:220865400-220874400	Weak transcription	Colonic Mucosa	Colon
8	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:220865600-220870800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:220866000-220872400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:220866000-220873400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:220866000-220873600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:220866600-220872400	Weak transcription	Fetal Brain Male	brain
14	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:220868400-220873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:220868400-220873600	Strong transcription	Fetal Intestine Small	intestine
17	chr1:220869800-220870800	Strong transcription	Fetal Intestine Large	intestine
18	chr1:220869800-220871600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:220869800-220872000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:220869800-220872000	Genic enhancers	Placenta	Placenta
21	chr1:220869800-220872600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:220870000-220871000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:220870000-220871400	Strong transcription	Aorta	Aorta
24	chr1:220870000-220871600	Strong transcription	Left Ventricle	heart
25	chr1:220870000-220871600	Strong transcription	Pancreas	Pancrea
26	chr1:220870000-220871800	Strong transcription	Adipose Nuclei	Adipose
27	chr1:220870000-220872000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:220870000-220872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:220870000-220872800	Genic enhancers	Liver	Liver
30	chr1:220870000-220873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:220870200-220871000	Strong transcription	HepG2	liver
32	chr1:220870200-220871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:220870200-220871400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:220870200-220871600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:220870200-220871600	Strong transcription	Gastric	stomach
36	chr1:220870200-220871600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:220870200-220871800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:220870200-220871800	Strong transcription	Spleen	Spleen
39	chr1:220870200-220872000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:220870400-220872000	Strong transcription	Lung	lung
41	chr1:220870400-220872000	Strong transcription	Right Ventricle	heart
42	chr1:220870400-220873600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:220870600-220871800	Strong transcription	Fetal Lung	lung
44	chr1:220870600-220873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:220870600-220873400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:220870600-220873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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