Variant report

Variant	rs575042192
Chromosome Location	chr5:94955297-94955298
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr5:94955245-94955315	H1-hESC	embryonic stem cell:	n/a	n/a
2	SPI1	chr5:94955182-94955540	HL-60	blood:	n/a	n/a
3	POLR2A	chr5:94955263-94957389	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

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

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

No data

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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94951000-94955400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:94952200-94955400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:94953200-94955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:94953200-94955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:94953200-94955600	Enhancers	NHEK	skin
6	chr5:94953800-94955800	Weak transcription	HMEC	breast
7	chr5:94954200-94955400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:94954400-94955400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:94954400-94955400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
10	chr5:94954600-94955400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:94954600-94955400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:94954600-94955600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:94954600-94955600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:94954600-94955800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:94954800-94955400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:94954800-94955400	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:94954800-94955400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr5:94954800-94955600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:94954800-94955800	Enhancers	Dnd41	blood
20	chr5:94954800-94958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:94955000-94955400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr5:94955000-94955400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr5:94955000-94955400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr5:94955000-94955400	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:94955000-94955400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:94955000-94955400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:94955000-94955400	Enhancers	Adipose Nuclei	Adipose
28	chr5:94955000-94955400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr5:94955000-94955400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr5:94955000-94955400	Weak transcription	Pancreas	Pancrea
31	chr5:94955000-94955400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:94955000-94955600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr5:94955000-94956000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:94955000-94956400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr5:94955000-94957600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:94955000-94957600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:94955200-94955400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:94955200-94955400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr5:94955200-94955400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:94955200-94955400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:94955200-94955400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr5:94955200-94955400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:94955200-94955400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr5:94955200-94955400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:94955200-94955400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:94955200-94955400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:94955200-94955400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:94955200-94955400	Enhancers	Liver	Liver
49	chr5:94955200-94955400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr5:94955200-94955400	Bivalent Enhancer	Brain Germinal Matrix	brain

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