Variant report

Variant	rs181208392
Chromosome Location	chr7:112578550-112578551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112442436..112445188-chr7:112575668..112578638,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv1795316	chr7:112577657-112588734	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1027981	chr7:112577657-112613212	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
4	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:112571400-112578800	Weak transcription	Psoas Muscle	Psoas
8	chr7:112571600-112578800	Weak transcription	Small Intestine	intestine
9	chr7:112573200-112578800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:112573200-112578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:112575600-112578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:112575600-112579200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:112575800-112578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:112576000-112578600	Weak transcription	Placenta	Placenta
15	chr7:112576200-112578600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:112576200-112578600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:112576400-112578600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:112576400-112578800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:112576600-112578600	Weak transcription	Ovary	ovary
20	chr7:112576600-112578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:112576600-112578800	Weak transcription	Esophagus	oesophagus
22	chr7:112576600-112578800	Weak transcription	Gastric	stomach
23	chr7:112576800-112578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:112576800-112578800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:112576800-112580800	Active TSS	Left Ventricle	heart
26	chr7:112577000-112578600	Weak transcription	Fetal Thymus	thymus
27	chr7:112577200-112578600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:112577200-112578600	Enhancers	Primary B cells from cord blood	blood
29	chr7:112577200-112578600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:112577200-112579200	Flanking Active TSS	Dnd41	blood
31	chr7:112577400-112578800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:112577400-112579200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:112577400-112580800	Active TSS	Right Ventricle	heart
34	chr7:112577600-112578600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr7:112577600-112578600	Flanking Active TSS	Osteobl	bone
36	chr7:112577600-112578800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:112577600-112578800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:112577600-112579200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:112577600-112580200	Active TSS	Right Atrium	heart
40	chr7:112577600-112580600	Active TSS	Brain Angular Gyrus	brain
41	chr7:112577600-112580800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:112577600-112581000	Active TSS	Fetal Brain Female	brain
43	chr7:112577600-112581400	Active TSS	Aorta	Aorta
44	chr7:112577800-112578600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:112577800-112578600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:112577800-112578600	Enhancers	NHEK	skin
47	chr7:112577800-112580600	Active TSS	HSMMtube	muscle
48	chr7:112578000-112578600	Enhancers	Adipose Nuclei	Adipose
49	chr7:112578000-112578800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr7:112578000-112578800	Active TSS	Brain Cingulate Gyrus	brain

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