Variant report

Variant	rs4446283
Chromosome Location	chr4:48142320-48142321
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	chr4:48140322..48143307-chr4:48146663..48148715,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10938521	1.00[YRI][hapmap]
rs11931912	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647931	1.00[YRI][hapmap]
rs13151608	1.00[YRI][hapmap]
rs17655249	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17655303	1.00[YRI][hapmap]
rs1961973	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805180	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45598338	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309328	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62309331	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62309332	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
4	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
7	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:48133000-48151400	Weak transcription	HSMMtube	muscle
12	chr4:48133000-48153000	Weak transcription	Placenta	Placenta
13	chr4:48135600-48142800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:48137800-48153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:48138400-48157400	Weak transcription	Aorta	Aorta
16	chr4:48138600-48150400	Weak transcription	Fetal Lung	lung
17	chr4:48138600-48155800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:48138800-48147000	Weak transcription	Esophagus	oesophagus
19	chr4:48139200-48143000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:48139200-48143000	Enhancers	Thymus	Thymus
21	chr4:48139200-48154600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:48139200-48155600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:48139200-48157600	Weak transcription	Gastric	stomach
24	chr4:48139200-48159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:48139800-48143000	Enhancers	Fetal Thymus	thymus
26	chr4:48139800-48147000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:48139800-48155400	Weak transcription	Spleen	Spleen
28	chr4:48139800-48155800	Weak transcription	Lung	lung
29	chr4:48140200-48146800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:48140200-48157400	Weak transcription	Pancreas	Pancrea
31	chr4:48141000-48142800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:48141000-48143000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:48141000-48143000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:48141000-48143000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:48141000-48143000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:48141000-48143000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:48141000-48143000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:48141000-48152200	Weak transcription	Left Ventricle	heart
39	chr4:48141000-48155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:48141200-48143000	Enhancers	Primary B cells from cord blood	blood
41	chr4:48141200-48143000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:48141200-48143000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr4:48141200-48143200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:48141200-48143400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:48141200-48145000	Weak transcription	K562	blood
46	chr4:48141200-48146600	Weak transcription	Liver	Liver
47	chr4:48141200-48151600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:48141200-48155400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:48141400-48143000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:48141400-48143000	Enhancers	HUVEC	blood vessel

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