Variant report

Variant	rs4975271
Chromosome Location	chr4:129134890-129134891
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	chr4:128981926..128983976-chr4:129134374..129135984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35053204	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers 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 target site	44 gene(s)	inside rSNPs	diseases
3	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:129108200-129149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129108400-129136000	Weak transcription	Lung	lung
4	chr4:129113000-129141400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:129113200-129141400	Weak transcription	A549	lung
6	chr4:129119600-129135000	Strong transcription	Liver	Liver
7	chr4:129120000-129141800	Weak transcription	HMEC	breast
8	chr4:129122600-129135800	Weak transcription	Right Ventricle	heart
9	chr4:129122800-129135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:129122800-129135200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:129122800-129135800	Weak transcription	Fetal Lung	lung
12	chr4:129122800-129141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:129122800-129141200	Weak transcription	NHDF-Ad	bronchial
14	chr4:129122800-129141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:129122800-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:129122800-129149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:129123000-129135800	Weak transcription	Gastric	stomach
18	chr4:129123000-129138400	Weak transcription	Ovary	ovary
19	chr4:129123000-129141400	Weak transcription	HUVEC	blood vessel
20	chr4:129123000-129141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:129123000-129144800	Weak transcription	Left Ventricle	heart
22	chr4:129123000-129145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:129123000-129149000	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:129123000-129149400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:129123600-129141200	Weak transcription	Osteobl	bone
26	chr4:129123600-129141600	Weak transcription	NH-A	brain
27	chr4:129124000-129141400	Weak transcription	HSMM	muscle
28	chr4:129124400-129137200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:129126600-129135800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:129128200-129141400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:129128200-129149200	Weak transcription	Aorta	Aorta
32	chr4:129128400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:129128400-129149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:129129800-129149000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:129130000-129141200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:129130800-129149600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:129133200-129135000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:129133400-129135000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:129133600-129135000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:129133600-129135800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:129133600-129149400	Weak transcription	Pancreas	Pancrea
42	chr4:129134400-129143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:129134400-129143800	Weak transcription	Fetal Intestine Small	intestine
44	chr4:129134400-129144000	Weak transcription	Fetal Stomach	stomach
45	chr4:129134400-129149200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:129134600-129135000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:129134600-129135600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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