Variant report

Variant	rs575203893
Chromosome Location	chr7:124470290-124470291
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1792357	chr7:124470044-124506088	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124452800-124475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
7	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:124460200-124483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:124460400-124488600	Weak transcription	HSMMtube	muscle
12	chr7:124460600-124486200	Weak transcription	Brain Substantia Nigra	brain
13	chr7:124460800-124476200	Weak transcription	Fetal Brain Male	brain
14	chr7:124461000-124499200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:124461000-124499600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
17	chr7:124461600-124490600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:124461600-124493400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:124461600-124499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:124462200-124474600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:124462200-124495000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:124462200-124498200	Weak transcription	Psoas Muscle	Psoas
23	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:124462400-124475000	Weak transcription	Thymus	Thymus
26	chr7:124462400-124488200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:124462400-124497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:124462600-124479800	Weak transcription	HepG2	liver
29	chr7:124462600-124504000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:124464000-124470600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:124464200-124475000	Weak transcription	Left Ventricle	heart
34	chr7:124464200-124480200	Weak transcription	HUVEC	blood vessel
35	chr7:124464200-124487000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:124464400-124475000	Weak transcription	Fetal Kidney	kidney
38	chr7:124464400-124497200	Weak transcription	Brain Germinal Matrix	brain
39	chr7:124464400-124497600	Weak transcription	Lung	lung
40	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:124464600-124486000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:124464600-124487800	Weak transcription	Primary B cells from cord blood	blood
43	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:124465000-124489400	Weak transcription	Hela-S3	cervix
45	chr7:124465400-124473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:124465400-124479000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:124466000-124491000	Weak transcription	Fetal Intestine Small	intestine
48	chr7:124466200-124486200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:124466400-124474800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:124466400-124479400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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