Variant report

Variant	rs539628715
Chromosome Location	chr4:74977577-74977578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:74977496-74978258	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr4:74977195-74978407	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF12	chr4:74977564-74978709	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74976407..74978358-chr4:74989024..74991226,2	K562	blood:
2	chr4:74976042..74977879-chr4:75018790..75020773,2	K562	blood:
3	chr4:74969971..74972171-chr4:74976711..74978462,2	K562	blood:
4	chr4:74975738..74977942-chr4:74982143..74984309,2	K562	blood:
5	chr4:74975401..74977757-chr4:74979234..74981426,2	K562	blood:

No data

Variant related genes	Relation type
MTHFD2L	TF binding region
ENSG00000163738	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3379316	chr4:74977405-74978942	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74966800-74978000	Weak transcription	Gastric	stomach
2	chr4:74971800-74977800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:74972000-74982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:74972200-74978000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:74972800-74980200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74973000-74978600	Enhancers	HUVEC	blood vessel
7	chr4:74973400-74980200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74974200-74981000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:74974400-74978000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:74974600-74978000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:74975200-74977800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:74975400-74977600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:74975400-74977600	Weak transcription	Right Atrium	heart
14	chr4:74975400-74977800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:74975400-74978000	Weak transcription	Aorta	Aorta
16	chr4:74975600-74978000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:74975600-74978000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:74975600-74978000	Weak transcription	Pancreas	Pancrea
19	chr4:74975600-74980000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:74975600-74980800	Enhancers	NHDF-Ad	bronchial
21	chr4:74975800-74977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:74975800-74978000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:74975800-74978600	Enhancers	HSMMtube	muscle
24	chr4:74975800-74980000	Enhancers	HMEC	breast
25	chr4:74975800-74980800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:74975800-74980800	Enhancers	Osteobl	bone
27	chr4:74975800-74981800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:74975800-74982600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:74976000-74977600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:74976000-74980200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:74976000-74982200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:74976000-74982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:74976000-74984400	Enhancers	Hela-S3	cervix
34	chr4:74976200-74977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:74976200-74979000	Enhancers	NH-A	brain
36	chr4:74976600-74977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:74976600-74978400	Enhancers	A549	lung
38	chr4:74976600-74978600	Enhancers	HSMM	muscle
39	chr4:74976600-74978800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:74976600-74979200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:74976600-74979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:74976600-74980800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:74977000-74978400	Enhancers	Adipose Nuclei	Adipose
44	chr4:74977000-74978400	Enhancers	Left Ventricle	heart
45	chr4:74977000-74978400	Enhancers	Stomach Mucosa	stomach
46	chr4:74977000-74980800	Enhancers	Placenta	Placenta
47	chr4:74977200-74981000	Weak transcription	Liver	Liver
48	chr4:74977200-74982200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:74977200-74983000	Weak transcription	Fetal Intestine Large	intestine
50	chr4:74977400-74977600	Enhancers	Sigmoid Colon	Sigmoid Colon

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