Variant report

Variant	rs4653636
Chromosome Location	chr1:225615566-225615567
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225605937..225609657-chr1:225612868..225616965,5	MCF-7	breast:
2	chr1:225590339..225593004-chr1:225614495..225616348,2	MCF-7	breast:
3	chr1:225614646..225616665-chr1:226249352..226251446,2	K562	blood:
4	chr1:225607872..225610815-chr1:225614150..225617627,4	MCF-7	breast:
5	chr1:225609832..225612207-chr1:225614120..225615659,2	MCF-7	breast:
6	chr1:225604992..225607166-chr1:225612913..225616218,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11588279	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6684787	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6687980	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541888	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3342670	chr1:225614754-225617302	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription 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	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225613800-225616600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225613800-225616600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:225613800-225616800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:225614000-225616600	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:225614000-225616600	Active TSS	A549	lung
6	chr1:225614000-225616800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:225614000-225616800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:225614000-225616800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:225614000-225616800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:225614000-225616800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:225614000-225616800	Active TSS	Fetal Kidney	kidney
12	chr1:225614000-225616800	Active TSS	Right Ventricle	heart
13	chr1:225614000-225616800	Active TSS	Thymus	Thymus
14	chr1:225614000-225616800	Active TSS	NHDF-Ad	bronchial
15	chr1:225614000-225617000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:225614000-225617000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:225614000-225617000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:225614200-225616600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:225614200-225616600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:225614200-225616600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr1:225614200-225616600	Active TSS	Gastric	stomach
22	chr1:225614200-225616600	Active TSS	Ovary	ovary
23	chr1:225614200-225616600	Active TSS	Small Intestine	intestine
24	chr1:225614200-225616800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:225614200-225616800	Active TSS	GM12878-XiMat	blood
26	chr1:225614200-225617200	Active TSS	NHLF	lung
27	chr1:225614400-225616400	Bivalent/Poised TSS	HepG2	liver
28	chr1:225614400-225616600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:225614400-225616600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:225614400-225616600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:225614400-225616600	Active TSS	Lung	lung
32	chr1:225614400-225616600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr1:225614400-225616600	Active TSS	Hela-S3	cervix
34	chr1:225614400-225616800	Active TSS	Aorta	Aorta
35	chr1:225614400-225616800	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:225614400-225616800	Active TSS	K562	blood
37	chr1:225614600-225615600	Active TSS	Right Atrium	heart
38	chr1:225614600-225616000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:225614600-225616200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:225614600-225616200	Active TSS	Fetal Brain Female	brain
41	chr1:225614600-225616400	Active TSS	Primary T cells from cord blood	blood
42	chr1:225614600-225616400	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:225614600-225616400	Active TSS	Colon Smooth Muscle	Colon
44	chr1:225614600-225616400	Active TSS	Fetal Lung	lung
45	chr1:225614600-225616400	Active TSS	Dnd41	blood
46	chr1:225614600-225616600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:225614600-225616600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:225614600-225616600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:225614600-225616600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:225614600-225616600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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