Variant report

Variant	rs542863916
Chromosome Location	chr7:4775387-4775388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4771014..4776153-chr7:4776925..4780694,6	K562	blood:
2	chr7:4768370..4770170-chr7:4773458..4776418,2	K562	blood:
3	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	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	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3370563	chr7:4775026-4779224	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:4765400-4778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:4765600-4777600	Strong transcription	Fetal Intestine Small	intestine
5	chr7:4765600-4778200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:4765600-4778200	Weak transcription	Aorta	Aorta
7	chr7:4765600-4778200	Weak transcription	Ovary	ovary
8	chr7:4765600-4778400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
10	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:4765800-4778200	Weak transcription	Osteobl	bone
12	chr7:4765800-4778400	Weak transcription	Fetal Kidney	kidney
13	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:4766000-4778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:4766000-4778000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:4766000-4778000	Weak transcription	NHDF-Ad	bronchial
17	chr7:4766000-4778200	Weak transcription	Fetal Brain Female	brain
18	chr7:4766000-4778200	Weak transcription	HSMM	muscle
19	chr7:4766000-4778800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:4766000-4783600	Weak transcription	HMEC	breast
21	chr7:4766200-4778200	Weak transcription	Stomach Mucosa	stomach
22	chr7:4766400-4778000	Weak transcription	HUVEC	blood vessel
23	chr7:4766600-4778000	Weak transcription	Liver	Liver
24	chr7:4766800-4776400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:4767800-4775600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:4768000-4781600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:4768200-4778200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:4768400-4778200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:4768800-4777800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:4768800-4778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:4770200-4777000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:4770200-4777000	Weak transcription	Pancreas	Pancrea
33	chr7:4770200-4778200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:4770400-4777000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:4770400-4778200	Weak transcription	Gastric	stomach
36	chr7:4770800-4776600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:4771000-4777000	Weak transcription	NHLF	lung
38	chr7:4771000-4777400	Strong transcription	Fetal Stomach	stomach
39	chr7:4771000-4778200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:4771000-4778200	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:4772000-4777200	Weak transcription	Placenta	Placenta
42	chr7:4772200-4775400	Enhancers	Brain Substantia Nigra	brain
43	chr7:4772400-4776400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:4773000-4775400	Enhancers	Lung	lung
45	chr7:4773000-4775400	Enhancers	Right Ventricle	heart
46	chr7:4773200-4775400	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:4773200-4776600	Weak transcription	Primary B cells from cord blood	blood
48	chr7:4773200-4776800	Weak transcription	GM12878-XiMat	blood
49	chr7:4773200-4778000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:4773200-4778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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