Variant report

Variant	rs192012853
Chromosome Location	chr7:50681555-50681556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50680803..50682728-chr7:50861117..50864019,2	K562	blood:
2	chr7:50677711..50679445-chr7:50681048..50682933,2	K562	blood:
3	chr4:25161558..25162216-chr7:50680800..50681655,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000109618	Chromatin interaction
ENSG00000106070	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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv521070	chr7:50681256-50685602	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
2	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
3	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
6	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
7	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:50667600-50681600	Weak transcription	HepG2	liver
14	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
16	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:50672600-50681800	Weak transcription	Fetal Heart	heart
18	chr7:50673200-50681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
21	chr7:50674400-50681600	Weak transcription	NHLF	lung
22	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
23	chr7:50676800-50686200	Strong transcription	Hela-S3	cervix
24	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:50677000-50685800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:50677000-50686800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:50677000-50687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:50677200-50682600	Strong transcription	Left Ventricle	heart
30	chr7:50677200-50683200	Strong transcription	K562	blood
31	chr7:50677200-50685400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:50677200-50685800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:50677200-50686200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:50677200-50686200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:50677200-50687200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:50677600-50688000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:50677800-50682600	Strong transcription	Fetal Lung	lung
38	chr7:50677800-50683200	Strong transcription	Aorta	Aorta
39	chr7:50677800-50683200	Strong transcription	Right Ventricle	heart
40	chr7:50677800-50683200	Strong transcription	Spleen	Spleen
41	chr7:50677800-50684200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:50677800-50686400	Strong transcription	Lung	lung
43	chr7:50678000-50682000	Strong transcription	Pancreas	Pancrea
44	chr7:50678000-50682400	Strong transcription	Gastric	stomach
45	chr7:50678000-50683200	Strong transcription	Adipose Nuclei	Adipose
46	chr7:50678000-50684800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr7:50678400-50682400	Weak transcription	Thymus	Thymus
48	chr7:50678400-50682600	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr7:50678800-50682400	Strong transcription	Fetal Muscle Leg	muscle
50	chr7:50678800-50683400	Strong transcription	Fetal Muscle Trunk	muscle

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