Variant report

Variant	rs186132123
Chromosome Location	chr5:94954784-94954785
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr5:94954585-94955128	HUVEC	blood vessel:	n/a	chr5:94954927-94954937
2	POLR2A	chr5:94954639-94955271	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr5:94954549-94955204	HUVEC	blood vessel:	n/a	chr5:94954981-94954991 chr5:94954981-94954991 chr5:94954981-94954991

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94953437..94955411-chr5:95066946..95068798,2	K562	blood:
2	chr5:94953878..94956024-chr5:94981084..94983825,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA9-2	chr5:94946081-94955781	NONHSAT102852

Variant related genes	Relation type
GPR150	TF binding region
ENSG00000175449	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3421596	chr5:94954196-94958694	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94949000-94955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:94949800-94955000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:94951000-94955400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:94952200-94955400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:94953000-94955200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:94953200-94955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:94953200-94955000	Weak transcription	NH-A	brain
8	chr5:94953200-94955200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:94953200-94955200	Weak transcription	GM12878-XiMat	blood
10	chr5:94953200-94955200	Weak transcription	Osteobl	bone
11	chr5:94953200-94955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:94953200-94955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:94953200-94955600	Enhancers	NHEK	skin
14	chr5:94953800-94955000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:94953800-94955800	Weak transcription	HMEC	breast
16	chr5:94954000-94955000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:94954200-94954800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:94954200-94955200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:94954200-94955400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:94954400-94955000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:94954400-94955000	Enhancers	Pancreas	Pancrea
22	chr5:94954400-94955200	Enhancers	Primary T cells from cord blood	blood
23	chr5:94954400-94955200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:94954400-94955400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:94954400-94955400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
26	chr5:94954600-94954800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr5:94954600-94954800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:94954600-94954800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:94954600-94954800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:94954600-94954800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:94954600-94954800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:94954600-94955000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:94954600-94955000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:94954600-94955000	Enhancers	Brain Angular Gyrus	brain
35	chr5:94954600-94955200	Enhancers	HUVEC	blood vessel
36	chr5:94954600-94955400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr5:94954600-94955400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:94954600-94955600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:94954600-94955600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:94954600-94955800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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