Variant report

Variant	rs565521951
Chromosome Location	chr7:50742070-50742071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50534464..50537080-chr7:50740963..50742721,2	K562	blood:
2	chr7:50739761..50742515-chr7:50760323..50762831,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3348670	chr7:50742059-50742273	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
7	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:50733200-50743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:50733800-50742600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:50734200-50743400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:50734400-50742400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:50735400-50743000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:50735400-50744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:50735600-50742400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr7:50735800-50743200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:50735800-50745000	Weak transcription	Stomach Mucosa	stomach
21	chr7:50736000-50742800	Strong transcription	Fetal Stomach	stomach
22	chr7:50736000-50743200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:50736000-50743400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:50736000-50743600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:50736200-50742600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:50736200-50743200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:50736400-50742400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:50736600-50742200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:50736600-50742200	Strong transcription	HSMMtube	muscle
30	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
31	chr7:50737000-50742800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:50737000-50743000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:50737200-50742600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:50737200-50742800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:50737600-50742200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:50737600-50742200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:50738800-50742400	Strong transcription	Liver	Liver
38	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:50739000-50746400	Weak transcription	Ovary	ovary
40	chr7:50739200-50742200	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:50739400-50742600	Weak transcription	Right Atrium	heart
42	chr7:50739400-50742600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:50739600-50742200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr7:50739600-50743000	Genic enhancers	Pancreas	Pancrea
45	chr7:50739600-50743200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:50739600-50743400	Strong transcription	Fetal Intestine Small	intestine
47	chr7:50739800-50742800	Weak transcription	Fetal Heart	heart
48	chr7:50740000-50742200	Strong transcription	Gastric	stomach
49	chr7:50740000-50743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:50740200-50742200	Strong transcription	Fetal Intestine Large	intestine

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