Variant report

Variant	rs547597886
Chromosome Location	chr4:8430139-8430140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8416707..8419298-chr4:8428396..8430193,3	MCF-7	breast:
2	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:
3	chr4:8429725..8430462-chrX:12992795..12993539,2	HCT-116	colon:
4	chr4:8414211..8417979-chr4:8429248..8432423,3	MCF-7	breast:
5	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:
6	chr4:8429704..8431761-chr4:8439023..8440743,2	MCF-7	breast:
7	chr4:8429518..8431924-chr4:8437588..8440150,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction
ENSG00000205542	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv964028	chr4:8418957-8430160	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3439603	chr4:8428877-8431425	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8428200-8431200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8429000-8430400	Active TSS	NHDF-Ad	bronchial
3	chr4:8429000-8431000	Active TSS	Hela-S3	cervix
4	chr4:8429200-8430400	Active TSS	Psoas Muscle	Psoas
5	chr4:8429200-8430400	Active TSS	Rectal Smooth Muscle	rectum
6	chr4:8429200-8430600	Active TSS	Aorta	Aorta
7	chr4:8429200-8430800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:8429200-8430800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:8429200-8430800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:8429200-8430800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:8429200-8430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:8429200-8431000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:8429200-8431000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:8429200-8431000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:8429200-8431000	Active TSS	HepG2	liver
16	chr4:8429400-8430200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:8429400-8430400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:8429400-8430400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:8429400-8430400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:8429400-8430400	Active TSS	Fetal Heart	heart
21	chr4:8429400-8430400	Active TSS	Pancreas	Pancrea
22	chr4:8429400-8430600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:8429400-8430600	Active TSS	Colon Smooth Muscle	Colon
24	chr4:8429400-8430600	Active TSS	Fetal Intestine Large	intestine
25	chr4:8429400-8430800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:8429400-8430800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr4:8429400-8430800	Active TSS	A549	lung
28	chr4:8429400-8431000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:8429400-8431000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr4:8429400-8431000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr4:8429600-8430200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
32	chr4:8429600-8430200	Active TSS	Lung	lung
33	chr4:8429600-8430200	Active TSS	Small Intestine	intestine
34	chr4:8429600-8430400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:8429600-8430400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:8429600-8430400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:8429600-8430400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:8429600-8430400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:8429600-8430400	Active TSS	Brain Hippocampus Middle	brain
40	chr4:8429600-8430400	Active TSS	Brain Substantia Nigra	brain
41	chr4:8429600-8430400	Active TSS	HSMM	muscle
42	chr4:8429600-8430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr4:8429600-8430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:8429600-8430600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:8429600-8430600	Active TSS	Esophagus	oesophagus
46	chr4:8429600-8430600	Active TSS	Left Ventricle	heart
47	chr4:8429600-8430600	Active TSS	Ovary	ovary
48	chr4:8429600-8430800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr4:8429600-8430800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:8429600-8431000	Active TSS	Fetal Intestine Small	intestine

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