Variant report

Variant	rs2253521
Chromosome Location	chr1:220214706-220214707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220212894..220215277-chr1:220216645..220218222,3	K562	blood:
2	chr1:220214211..220216766-chr1:220216909..220219452,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1039206	1.00[CEU][hapmap]
rs1124763	1.00[CEU][hapmap]
rs1557130	1.00[CEU][hapmap]
rs17007107	1.00[CEU][hapmap]
rs17007139	1.00[CEU][hapmap]
rs2577161	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820455	1.00[CEU][hapmap]

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	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
4	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
5	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
6	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
10	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
13	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220206600-220217000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:220206800-220218200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
17	chr1:220207600-220217000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:220207600-220218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:220208000-220216400	Weak transcription	NHDF-Ad	bronchial
20	chr1:220208200-220216800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:220208200-220218200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:220208400-220218200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:220208600-220218000	Weak transcription	HSMM	muscle
24	chr1:220208800-220218400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:220209600-220215200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:220210600-220218600	Weak transcription	Right Atrium	heart
27	chr1:220211000-220214800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:220211000-220214800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:220211200-220215400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:220211400-220214800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:220211600-220214800	Strong transcription	Primary T cells from cord blood	blood
32	chr1:220211600-220215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:220211600-220215800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:220211800-220215000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:220211800-220215200	Strong transcription	HepG2	liver
36	chr1:220211800-220215600	Strong transcription	Fetal Stomach	stomach
37	chr1:220211800-220215800	Strong transcription	Fetal Intestine Small	intestine
38	chr1:220212000-220214800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:220212000-220215200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:220212200-220214800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:220212400-220217200	Weak transcription	Gastric	stomach
42	chr1:220212400-220218200	Weak transcription	Stomach Mucosa	stomach
43	chr1:220212600-220214800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:220212600-220214800	Strong transcription	Dnd41	blood
45	chr1:220212600-220216800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:220212600-220216800	Strong transcription	K562	blood
47	chr1:220212800-220214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:220212800-220216800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:220212800-220217200	Weak transcription	Small Intestine	intestine
50	chr1:220212800-220218200	Weak transcription	HMEC	breast

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