Variant report

Variant	rs377613280
Chromosome Location	chr4:147440252-147440253
allele	-/TATATATATATAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147437110..147440734-chr4:147441059..147444351,6	K562	blood:
2	chr4:147433100..147434679-chr4:147439045..147441227,2	K562	blood:
3	chr4:147438639..147441130-chr4:147443226..147445590,2	MCF-7	breast:
4	chr4:147414219..147415892-chr4:147439502..147441061,2	K562	blood:
5	chr4:147419888..147422305-chr4:147440124..147442502,3	K562	blood:

Variant related genes	Relation type
ENSG00000120519	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3376036	chr4:147439502-147441500	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1613442	chr4:147440245-147440263	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1011391	chr4:147440247-147440263	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv290231	chr4:147440248-147440263	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
3	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
6	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
9	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
10	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
11	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
16	chr4:147416000-147442000	Weak transcription	Gastric	stomach
17	chr4:147416600-147440600	Weak transcription	NH-A	brain
18	chr4:147417000-147440600	Weak transcription	Fetal Heart	heart
19	chr4:147417000-147440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:147417400-147440600	Weak transcription	HMEC	breast
21	chr4:147417600-147440600	Weak transcription	NHLF	lung
22	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
23	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
25	chr4:147417800-147440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:147417800-147440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
28	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
29	chr4:147421200-147440800	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:147421400-147440600	Weak transcription	HepG2	liver
31	chr4:147423000-147440800	Weak transcription	Ovary	ovary
32	chr4:147423200-147442000	Weak transcription	Placenta	Placenta
33	chr4:147423200-147442000	Weak transcription	Fetal Thymus	thymus
34	chr4:147423400-147441200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:147424400-147441200	Weak transcription	Fetal Kidney	kidney
36	chr4:147424400-147441800	Weak transcription	HSMM	muscle
37	chr4:147425000-147440600	Weak transcription	Thymus	Thymus
38	chr4:147425000-147440600	Weak transcription	NHEK	skin
39	chr4:147425000-147440800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:147425200-147440800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:147425200-147441200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:147430000-147441400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:147430200-147441200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:147430600-147442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:147432400-147440800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:147433000-147440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:147433000-147440600	Weak transcription	HUVEC	blood vessel
48	chr4:147433000-147442200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:147433200-147440600	Weak transcription	Hela-S3	cervix
50	chr4:147433600-147440800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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