Variant report

Variant	rs112291982
Chromosome Location	chr1:220211282-220211283
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	chr1:220204428..220207144-chr1:220209428..220212102,2	MCF-7	breast:
2	chr1:220209718..220212778-chr1:220216575..220219154,4	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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
2	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
6	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
7	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
8	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
12	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
13	chr1:220196400-220211600	Weak transcription	Gastric	stomach
14	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:220196600-220212200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
17	chr1:220197400-220212000	Weak transcription	Small Intestine	intestine
18	chr1:220197600-220211800	Weak transcription	Spleen	Spleen
19	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:220200200-220212200	Strong transcription	GM12878-XiMat	blood
21	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:220205000-220212200	Weak transcription	Fetal Kidney	kidney
23	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
24	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:220206200-220212000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:220206200-220212000	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:220206600-220211600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:220206600-220211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:220206600-220211600	Weak transcription	Left Ventricle	heart
30	chr1:220206600-220211800	Weak transcription	Ovary	ovary
31	chr1:220206600-220211800	Weak transcription	Thymus	Thymus
32	chr1:220206600-220212000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:220206600-220212000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:220206600-220212000	Weak transcription	A549	lung
35	chr1:220206600-220212000	Weak transcription	HSMMtube	muscle
36	chr1:220206600-220217000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:220206800-220211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:220206800-220211800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:220206800-220211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:220206800-220211800	Weak transcription	Fetal Intestine Small	intestine
41	chr1:220206800-220211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:220206800-220212000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:220206800-220212000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:220206800-220213000	Weak transcription	Psoas Muscle	Psoas
45	chr1:220206800-220218200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
47	chr1:220207000-220212200	Weak transcription	NHLF	lung
48	chr1:220207200-220212200	Weak transcription	NHEK	skin
49	chr1:220207600-220217000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:220207600-220218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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