Variant report

Variant	rs57431778
Chromosome Location	chr4:102137096-102137097
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102132378..102137529-chr4:102267092..102270901,7	MCF-7	breast:
2	chr4:102134665..102137558-chr4:102138391..102140699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138814	Chromatin interaction
ENSG00000254531	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28532678	0.85[AMR][1000 genomes]
rs28624713	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28678322	0.85[AMR][1000 genomes]
rs6838341	0.85[AMR][1000 genomes]
rs6851462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833264	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73833265	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73833271	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9990724	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102128000-102138200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:102129000-102140400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:102129600-102138600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:102131800-102146000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:102132400-102138400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:102133000-102137800	Weak transcription	Ovary	ovary
7	chr4:102133000-102138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:102133000-102138200	Weak transcription	NHDF-Ad	bronchial
9	chr4:102133000-102138400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:102133000-102138600	Weak transcription	NH-A	brain
11	chr4:102133000-102143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:102133000-102143800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:102133200-102138600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:102133200-102142400	Weak transcription	HSMM	muscle
15	chr4:102133200-102143600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:102133400-102139000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:102133600-102138400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:102133600-102138400	Weak transcription	Osteobl	bone
19	chr4:102133600-102138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:102133800-102139000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:102134600-102138200	Weak transcription	A549	lung
22	chr4:102135800-102145200	Weak transcription	Small Intestine	intestine
23	chr4:102136000-102137800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:102136000-102138800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:102136000-102141600	Weak transcription	Stomach Mucosa	stomach
26	chr4:102136000-102144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:102136000-102145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:102136400-102137400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:102137000-102138600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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