Variant report

Variant	rs996934
Chromosome Location	chr5:118695836-118695837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118693986..118696448-chr5:118697023..118698533,2	K562	blood:
2	chr5:118695609..118697325-chr5:118702023..118704642,2	K562	blood:
3	chr5:118690596..118694725-chr5:118695495..118698867,4	MCF-7	breast:
4	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10477585	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112247	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13155880	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17145265	0.86[AFR][1000 genomes]
rs250298	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs250299	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs250308	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs32653	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs32655	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs32657	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32658	0.99[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3797339	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797341	0.86[AFR][1000 genomes]
rs3797343	0.86[AFR][1000 genomes]
rs3813308	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3920174	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs408095	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67328001	0.85[AFR][1000 genomes]
rs6863311	0.88[AFR][1000 genomes]
rs6864305	0.82[AFR][1000 genomes]
rs6869512	0.85[AFR][1000 genomes]
rs6870253	0.82[AFR][1000 genomes]
rs6876224	0.83[AFR][1000 genomes]
rs6877025	0.88[AFR][1000 genomes]
rs6882237	0.88[AFR][1000 genomes]
rs6891084	0.82[AFR][1000 genomes]
rs6896277	0.83[AFR][1000 genomes]
rs6896553	0.83[AFR][1000 genomes]
rs6896559	0.83[AFR][1000 genomes]
rs6897359	0.82[AFR][1000 genomes]
rs7707470	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv16366	chr5:118692052-118702846	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118691800-118700400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118692200-118696800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:118692400-118696200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118692600-118696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:118692600-118697200	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:118692800-118696000	Weak transcription	HSMM	muscle
9	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
10	chr5:118693000-118696000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:118693000-118697000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:118693000-118697800	Enhancers	Fetal Heart	heart
13	chr5:118693000-118698600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:118693000-118699800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:118693200-118696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:118693200-118698600	Weak transcription	Right Ventricle	heart
17	chr5:118693200-118698800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:118693400-118696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:118693400-118696200	Weak transcription	Placenta	Placenta
20	chr5:118693400-118696400	Weak transcription	NH-A	brain
21	chr5:118693400-118696400	Weak transcription	NHLF	lung
22	chr5:118693400-118696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:118693400-118696800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:118693400-118696800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:118693400-118697000	Enhancers	Small Intestine	intestine
26	chr5:118693400-118697600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:118693400-118699200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:118693800-118696000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:118693800-118698200	Enhancers	Adipose Nuclei	Adipose
31	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:118694000-118696200	Enhancers	Fetal Kidney	kidney
33	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:118694400-118696000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:118694400-118696400	Enhancers	HMEC	breast
36	chr5:118694400-118696600	Enhancers	Duodenum Mucosa	Duodenum
37	chr5:118694400-118700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:118694600-118696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:118694600-118698200	Genic enhancers	K562	blood
42	chr5:118694600-118700400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
43	chr5:118694800-118696000	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:118694800-118696600	Enhancers	Fetal Stomach	stomach
45	chr5:118694800-118696600	Enhancers	Stomach Mucosa	stomach
46	chr5:118694800-118696600	Enhancers	NHEK	skin
47	chr5:118694800-118697200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:118694800-118698000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:118694800-118698400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:118694800-118701200	Weak transcription	Fetal Lung	lung

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