Variant report

Variant	rs192542470
Chromosome Location	chr7:128028916-128028917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127987698..127988606-chr7:128028908..128029761,2	K562	blood:
2	chr7:128028657..128031513-chr7:128044635..128046587,2	MCF-7	breast:
3	chr7:127981942..127985449-chr7:128028066..128032035,3	K562	blood:
4	chr7:127991021..127992566-chr7:128027560..128029110,2	MCF-7	breast:
5	chr7:127999931..128002106-chr7:128027139..128029392,2	MCF-7	breast:
6	chr7:127989814..127992283-chr7:128027367..128029799,2	MCF-7	breast:
7	chr7:127986230..127989260-chr7:128028040..128030111,4	K562	blood:
8	chr7:127985563..127989260-chr7:128027649..128030802,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224940	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000106344	Chromatin interaction

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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3421306	chr7:128028266-128031064	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128031200	Weak transcription	A549	lung
6	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
8	chr7:128024200-128034600	Weak transcription	HMEC	breast
9	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
10	chr7:128026600-128030000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:128026600-128030200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:128026600-128030400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:128026800-128030400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:128027200-128030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:128027600-128033200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:128027800-128029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:128027800-128029200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:128027800-128029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:128027800-128031800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128027800-128031800	Weak transcription	Ovary	ovary
21	chr7:128027800-128033800	Weak transcription	Brain Anterior Caudate	brain
22	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
23	chr7:128028000-128031600	Weak transcription	Brain Germinal Matrix	brain
24	chr7:128028000-128031600	Weak transcription	Fetal Brain Female	brain
25	chr7:128028000-128031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:128028000-128032400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:128028000-128035600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
29	chr7:128028200-128029200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:128028200-128029200	Weak transcription	Spleen	Spleen
31	chr7:128028200-128031400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:128028200-128031600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:128028200-128031600	Weak transcription	Adipose Nuclei	Adipose
34	chr7:128028200-128031800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:128028200-128032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:128028200-128033000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:128028200-128033200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:128028200-128033200	Weak transcription	Brain Substantia Nigra	brain
39	chr7:128028200-128033400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:128028200-128033400	Weak transcription	Left Ventricle	heart
41	chr7:128028200-128033800	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:128028200-128034000	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:128028200-128034200	Weak transcription	HSMMtube	muscle
44	chr7:128028200-128034400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:128028200-128036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:128028200-128036800	Weak transcription	Dnd41	blood
47	chr7:128028200-128037000	Weak transcription	Liver	Liver
48	chr7:128028400-128029000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:128028400-128030200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:128028400-128031000	Weak transcription	Primary monocytes fromperipheralblood	blood

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