Variant report

Variant	rs539200668
Chromosome Location	chr1:220871484-220871485
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	nsv826742	chr1:220870804-220871633	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 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	chr1:220865400-220873200	Weak transcription	Fetal Brain Female	brain
5	chr1:220865400-220873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:220865400-220874400	Weak transcription	Colonic Mucosa	Colon
7	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:220866000-220872400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:220866000-220873400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:220866000-220873600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:220866600-220872400	Weak transcription	Fetal Brain Male	brain
12	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:220868400-220873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220868400-220873600	Strong transcription	Fetal Intestine Small	intestine
15	chr1:220869800-220871600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:220869800-220872000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:220869800-220872000	Genic enhancers	Placenta	Placenta
18	chr1:220869800-220872600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:220870000-220871600	Strong transcription	Left Ventricle	heart
20	chr1:220870000-220871600	Strong transcription	Pancreas	Pancrea
21	chr1:220870000-220871800	Strong transcription	Adipose Nuclei	Adipose
22	chr1:220870000-220872000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr1:220870000-220872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:220870000-220872800	Genic enhancers	Liver	Liver
25	chr1:220870000-220873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:220870200-220871600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:220870200-220871600	Strong transcription	Gastric	stomach
28	chr1:220870200-220871600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:220870200-220871800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:220870200-220871800	Strong transcription	Spleen	Spleen
31	chr1:220870200-220872000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:220870400-220872000	Strong transcription	Lung	lung
33	chr1:220870400-220872000	Strong transcription	Right Ventricle	heart
34	chr1:220870400-220873600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:220870600-220871800	Strong transcription	Fetal Lung	lung
36	chr1:220870600-220873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:220870600-220873400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:220870600-220873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:220870800-220872200	Genic enhancers	Fetal Intestine Large	intestine
40	chr1:220871000-220871600	Strong transcription	Brain Angular Gyrus	brain
41	chr1:220871000-220871600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:220871000-220871800	Genic enhancers	HepG2	liver
43	chr1:220871000-220872000	Strong transcription	Fetal Stomach	stomach
44	chr1:220871200-220873600	Weak transcription	Brain Germinal Matrix	brain
45	chr1:220871400-220871600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr1:220871400-220873000	Weak transcription	Aorta	Aorta
47	chr1:220871400-220873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:220871400-220874000	Weak transcription	Brain Anterior Caudate	brain
49	chr1:220871400-220876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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