Variant report

Variant	rs571306802
Chromosome Location	chr4:8429448-8429449
allele	A/C
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	chr4:8414211..8417979-chr4:8429248..8432423,3	MCF-7	breast:
4	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:

Variant related genes	Relation type
ENSG00000155275	Chromatin interaction
ENSG00000087008	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	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	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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:125 , 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	chr4:8428800-8429600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:8428800-8429800	Flanking Active TSS	Brain Cingulate Gyrus	brain
4	chr4:8428800-8430000	Active TSS	Right Atrium	heart
5	chr4:8429000-8429600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:8429000-8429600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:8429000-8429600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:8429000-8429600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:8429000-8429600	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr4:8429000-8429600	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr4:8429000-8429600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:8429000-8429600	Enhancers	Spleen	Spleen
13	chr4:8429000-8429800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:8429000-8429800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:8429000-8429800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:8429000-8429800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr4:8429000-8429800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:8429000-8429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:8429000-8429800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:8429000-8429800	Flanking Active TSS	Liver	Liver
21	chr4:8429000-8429800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr4:8429000-8429800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr4:8429000-8429800	Flanking Active TSS	Colonic Mucosa	Colon
24	chr4:8429000-8429800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr4:8429000-8429800	Flanking Active TSS	Fetal Brain Female	brain
26	chr4:8429000-8429800	Flanking Active TSS	Fetal Stomach	stomach
27	chr4:8429000-8429800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr4:8429000-8429800	Flanking Active TSS	Right Ventricle	heart
29	chr4:8429000-8429800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:8429000-8429800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:8429000-8429800	Flanking Active TSS	Dnd41	blood
32	chr4:8429000-8429800	Flanking Active TSS	HSMMtube	muscle
33	chr4:8429000-8429800	Flanking Active TSS	HUVEC	blood vessel
34	chr4:8429000-8430000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr4:8429000-8430400	Active TSS	NHDF-Ad	bronchial
36	chr4:8429000-8431000	Active TSS	Hela-S3	cervix
37	chr4:8429200-8429600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:8429200-8429600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr4:8429200-8429600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:8429200-8429600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:8429200-8429600	Flanking Active TSS	Esophagus	oesophagus
42	chr4:8429200-8429600	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr4:8429200-8429600	Flanking Active TSS	Left Ventricle	heart
44	chr4:8429200-8429600	Flanking Active TSS	Ovary	ovary
45	chr4:8429200-8429600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr4:8429200-8429600	Flanking Active TSS	HSMM	muscle
47	chr4:8429200-8429800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:8429200-8429800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:8429200-8429800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr4:8429200-8429800	Flanking Active TSS	Primary T cells from cord blood	blood

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