Variant report

Variant	rs550712911
Chromosome Location	chr4:147440852-147440853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
2	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
3	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
6	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
7	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
8	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
12	chr4:147416000-147442000	Weak transcription	Gastric	stomach
13	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
14	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
16	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
17	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
18	chr4:147423200-147442000	Weak transcription	Placenta	Placenta
19	chr4:147423200-147442000	Weak transcription	Fetal Thymus	thymus
20	chr4:147423400-147441200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:147424400-147441200	Weak transcription	Fetal Kidney	kidney
22	chr4:147424400-147441800	Weak transcription	HSMM	muscle
23	chr4:147425200-147441200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:147430000-147441400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:147430200-147441200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:147430600-147442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:147433000-147442200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:147433800-147441800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:147436000-147441000	Weak transcription	Colonic Mucosa	Colon
30	chr4:147436400-147441200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:147436400-147441200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:147436600-147441000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:147436600-147441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:147436600-147441000	Weak transcription	Osteobl	bone
35	chr4:147436600-147441400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:147436800-147441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:147436800-147441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:147437000-147441200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:147437000-147441400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:147437000-147442000	Weak transcription	Lung	lung
41	chr4:147437200-147442000	Weak transcription	Left Ventricle	heart
42	chr4:147437400-147441000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:147437600-147441400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:147438400-147442000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:147438800-147442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:147439200-147444400	Active TSS	GM12878-XiMat	blood
47	chr4:147439400-147441800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:147439800-147441400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:147439800-147441800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr4:147440000-147441200	Enhancers	Brain Anterior Caudate	brain

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