Variant report

Variant	rs111494508
Chromosome Location	chr4:8428976-8428977
allele	C/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	chr4:8428810..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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:8416800-8429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:8416800-8429000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:8416800-8429000	Weak transcription	Fetal Kidney	kidney
6	chr4:8416800-8429000	Weak transcription	HUVEC	blood vessel
7	chr4:8417000-8429000	Weak transcription	Small Intestine	intestine
8	chr4:8417800-8429000	Weak transcription	Primary B cells from cord blood	blood
9	chr4:8417800-8429000	Weak transcription	Colonic Mucosa	Colon
10	chr4:8417800-8429000	Weak transcription	HSMMtube	muscle
11	chr4:8417800-8429200	Weak transcription	Fetal Lung	lung
12	chr4:8418000-8429000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:8418000-8429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:8418000-8429000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:8418200-8429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:8418200-8429000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:8418400-8429000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:8418400-8429000	Weak transcription	NHEK	skin
19	chr4:8418600-8429000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:8418600-8429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:8418600-8429000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:8418600-8429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:8418600-8429000	Weak transcription	Brain Germinal Matrix	brain
24	chr4:8418600-8429000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:8418800-8429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:8419200-8429000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:8419200-8429200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:8419400-8429000	Weak transcription	Fetal Intestine Small	intestine
29	chr4:8419400-8429000	Weak transcription	Thymus	Thymus
30	chr4:8419600-8429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:8421600-8429000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:8421600-8429000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:8421600-8429000	Weak transcription	HepG2	liver
34	chr4:8421600-8429000	Weak transcription	HSMM	muscle
35	chr4:8421800-8429000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:8421800-8429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:8421800-8429000	Weak transcription	Pancreas	Pancrea
38	chr4:8421800-8429200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:8422000-8429000	Weak transcription	Gastric	stomach
40	chr4:8422000-8429000	Weak transcription	Lung	lung
41	chr4:8422000-8429000	Weak transcription	Spleen	Spleen
42	chr4:8422000-8429200	Weak transcription	Aorta	Aorta
43	chr4:8422000-8429400	Weak transcription	A549	lung
44	chr4:8422200-8429000	Weak transcription	Ovary	ovary
45	chr4:8422200-8429200	Weak transcription	K562	blood
46	chr4:8423800-8429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:8424400-8429200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:8424800-8429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:8424800-8429000	Weak transcription	HMEC	breast
50	chr4:8425800-8429000	Weak transcription	Esophagus	oesophagus

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