Variant report

Variant	rs4443952
Chromosome Location	chr1:211500633-211500634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
3	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10458470	0.84[ASN][1000 genomes]
rs10494935	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10746434	0.82[AFR][1000 genomes]
rs10779554	0.85[AFR][1000 genomes]
rs10779555	0.85[AFR][1000 genomes]
rs11119725	0.93[ASN][1000 genomes]
rs11119727	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119731	0.82[ASN][1000 genomes]
rs11119733	0.82[ASN][1000 genomes]
rs11119734	0.81[ASN][1000 genomes]
rs11119737	0.82[ASN][1000 genomes]
rs11577764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027277	0.82[ASN][1000 genomes]
rs12030854	0.82[ASN][1000 genomes]
rs12033418	0.95[ASN][1000 genomes]
rs12039915	0.82[ASN][1000 genomes]
rs12085730	0.88[ASN][1000 genomes]
rs12097572	0.84[ASN][1000 genomes]
rs17017401	0.93[ASN][1000 genomes]
rs2175633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289758	0.88[ASN][1000 genomes]
rs2920907	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3738201	0.84[ASN][1000 genomes]
rs4370817	0.82[AFR][1000 genomes]
rs4951521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57093875	0.88[ASN][1000 genomes]
rs58510761	0.83[ASN][1000 genomes]
rs60169087	0.97[ASN][1000 genomes]
rs61624054	0.82[ASN][1000 genomes]
rs6540675	0.82[AFR][1000 genomes]
rs6663729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6671526	0.82[AFR][1000 genomes]
rs6681141	0.80[ASN][1000 genomes]
rs6684356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6698113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540368	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9887769	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374121	chr1:211499154-211501702	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3347623	chr1:211499429-211501377	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211499600-211500800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:211499600-211501000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:211499600-211501000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:211499600-211501000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:211499600-211501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:211499600-211501000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:211499600-211501000	Active TSS	NHLF	lung
8	chr1:211499600-211501200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:211499600-211501200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211499600-211501200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:211499600-211501800	Active TSS	HSMM	muscle
12	chr1:211499600-211502200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:211499800-211500800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:211499800-211500800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:211499800-211500800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:211499800-211501000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:211499800-211501000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:211499800-211501000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:211499800-211501000	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:211499800-211501000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:211499800-211501000	Active TSS	Gastric	stomach
22	chr1:211499800-211501200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:211499800-211501200	Active TSS	Brain Cingulate Gyrus	brain
24	chr1:211499800-211501200	Active TSS	Brain Hippocampus Middle	brain
25	chr1:211499800-211501200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:211499800-211501200	Active TSS	Ovary	ovary
27	chr1:211499800-211501200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr1:211499800-211501400	Active TSS	Brain Substantia Nigra	brain
29	chr1:211499800-211501400	Active TSS	Colon Smooth Muscle	Colon
30	chr1:211499800-211501400	Active TSS	A549	lung
31	chr1:211499800-211501800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:211499800-211501800	Active TSS	Aorta	Aorta
33	chr1:211499800-211501800	Active TSS	HSMMtube	muscle
34	chr1:211500000-211500800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:211500000-211500800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:211500000-211500800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:211500000-211500800	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr1:211500000-211500800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:211500000-211500800	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:211500000-211500800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:211500000-211500800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:211500000-211500800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:211500000-211500800	Active TSS	Brain Germinal Matrix	brain
44	chr1:211500000-211500800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:211500000-211500800	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:211500000-211500800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr1:211500000-211500800	Weak transcription	Fetal Heart	heart
48	chr1:211500000-211500800	Active TSS	Fetal Intestine Small	intestine
49	chr1:211500000-211500800	Active TSS	Fetal Muscle Leg	muscle
50	chr1:211500000-211500800	Active TSS	Placenta	Placenta

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