Variant report

Variant	rs1473222
Chromosome Location	chr4:143488095-143488096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143391847..143398603-chr4:143487301..143496810,15	MCF-7	breast:
2	chr4:143391421..143397876-chr4:143484529..143495051,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1116690	0.85[AMR][1000 genomes]
rs11942731	0.82[JPT][hapmap]
rs13102191	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13125362	0.81[EUR][1000 genomes]
rs13147451	0.81[CHB][hapmap]
rs1364922	0.80[AMR][1000 genomes]
rs1364925	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1443191	0.93[CHB][hapmap];0.82[AMR][1000 genomes]
rs2017146	0.83[CEU][hapmap];0.92[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2165820	0.93[CHB][hapmap]
rs2217017	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2874870	0.91[CHB][hapmap];0.83[AMR][1000 genomes]
rs2874871	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4975311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6831966	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7698691	0.80[AMR][1000 genomes]
rs979194	0.80[AMR][1000 genomes]
rs979195	0.80[AMR][1000 genomes]
rs979196	0.80[AMR][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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143479200-143488400	Weak transcription	Pancreas	Pancrea
2	chr4:143481400-143488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:143481600-143488400	Weak transcription	Fetal Lung	lung
4	chr4:143481600-143488600	Weak transcription	Osteobl	bone
5	chr4:143484200-143489000	Weak transcription	Fetal Heart	heart
6	chr4:143485200-143488400	Weak transcription	Thymus	Thymus
7	chr4:143485200-143489200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:143485400-143488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:143486800-143488400	Active TSS	Colonic Mucosa	Colon
10	chr4:143486800-143489600	Active TSS	Primary T cells fromperipheralblood	blood
11	chr4:143486800-143489800	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:143486800-143489800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:143487000-143488600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:143487000-143489200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:143487000-143489600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr4:143487000-143489600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:143487000-143489600	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr4:143487000-143489600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr4:143487000-143489800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:143487000-143489800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr4:143487200-143488400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr4:143487200-143488400	Weak transcription	NHDF-Ad	bronchial
23	chr4:143487200-143489200	Active TSS	Primary T cells from cord blood	blood
24	chr4:143487400-143488200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr4:143487400-143488200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:143487400-143488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:143487400-143488600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:143487400-143491800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:143487600-143488200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr4:143487600-143488200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:143487600-143488400	Enhancers	Fetal Intestine Small	intestine
32	chr4:143487600-143488600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:143487600-143489200	Enhancers	NHEK	skin
34	chr4:143487600-143490000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:143487800-143488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:143487800-143488400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:143487800-143488600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:143487800-143489200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr4:143487800-143489600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:143488000-143488200	Enhancers	Fetal Intestine Large	intestine
41	chr4:143488000-143488400	Weak transcription	A549	lung
42	chr4:143488000-143488600	Enhancers	HMEC	breast
43	chr4:143488000-143488800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:143488000-143489000	Enhancers	Primary hematopoietic stem cells	blood

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