Variant report

Variant	rs4379049
Chromosome Location	chr4:148657772-148657773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148652844..148654562-chr4:148655409..148657775,3	MCF-7	breast:
2	chr4:148654907..148656449-chr4:148656457..148658051,2	MCF-7	breast:
3	chr4:148656183..148658281-chr4:148663299..148667161,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction
ENSG00000252951	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10015717	0.82[CHB][hapmap]
rs1005871	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17023732	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17675572	0.82[CHB][hapmap]
rs2036498	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2358097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2654938	0.82[CHB][hapmap]
rs2654940	0.82[CHB][hapmap]
rs2654941	0.82[CHB][hapmap]
rs2654949	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2718448	0.82[CHB][hapmap]
rs2718453	0.82[CHB][hapmap]
rs2718454	0.82[CHB][hapmap]
rs2718455	0.82[CHB][hapmap]
rs2884383	0.82[CHB][hapmap]
rs4496566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706053	0.89[AMR][1000 genomes]
rs59081829	0.89[AMR][1000 genomes]
rs6841745	0.82[CHB][hapmap]
rs6845224	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6845592	0.82[CHB][hapmap]
rs6846220	0.82[CHB][hapmap]
rs6849336	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7660361	0.82[CHB][hapmap]
rs7666065	0.82[CHB][hapmap]
rs7677034	1.00[EUR][1000 genomes]
rs7684897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7687368	0.82[CHB][hapmap]
rs905607	1.00[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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148652400-148657800	Active TSS	Aorta	Aorta
2	chr4:148654600-148658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:148654800-148658000	Enhancers	Fetal Intestine Large	intestine
4	chr4:148654800-148658200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:148654800-148658200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr4:148654800-148658200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:148655000-148657800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr4:148655200-148658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:148655400-148658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:148655400-148658000	Enhancers	A549	lung
11	chr4:148655400-148662600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:148655400-148662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:148655600-148658200	Enhancers	HMEC	breast
14	chr4:148655600-148662600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:148655600-148662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:148655800-148658000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:148655800-148658200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:148655800-148658200	Enhancers	Hela-S3	cervix
20	chr4:148655800-148660200	Weak transcription	Placenta	Placenta
21	chr4:148655800-148663400	Enhancers	Fetal Heart	heart
22	chr4:148655800-148665600	Weak transcription	Lung	lung
23	chr4:148656000-148659200	Enhancers	Adipose Nuclei	Adipose
24	chr4:148656000-148659400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:148656000-148660000	Enhancers	Colon Smooth Muscle	Colon
26	chr4:148656000-148662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:148656400-148657800	Flanking Active TSS	HUVEC	blood vessel
28	chr4:148656400-148658000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:148656400-148658200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr4:148656400-148658200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:148656400-148658800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:148656600-148657800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:148656600-148658000	Flanking Active TSS	Osteobl	bone
34	chr4:148656600-148661800	Weak transcription	Fetal Lung	lung
35	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:148656800-148657800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr4:148656800-148657800	Active TSS	Stomach Smooth Muscle	stomach
38	chr4:148656800-148658000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr4:148656800-148658000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:148656800-148658200	Flanking Active TSS	NHEK	skin
41	chr4:148656800-148658800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:148656800-148659200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:148656800-148659200	Enhancers	Psoas Muscle	Psoas
44	chr4:148656800-148660200	Enhancers	Left Ventricle	heart
45	chr4:148656800-148662800	Weak transcription	Small Intestine	intestine
46	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
47	chr4:148657000-148657800	Active TSS	Ovary	ovary
48	chr4:148657000-148657800	Enhancers	Right Atrium	heart
49	chr4:148657000-148658200	Enhancers	Rectal Smooth Muscle	rectum
50	chr4:148657000-148658200	Enhancers	HSMM	muscle

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