Variant report

Variant	rs16919513
Chromosome Location	chr8:54643399-54643400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54635896..54638290-chr8:54641065..54643578,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1483538	1.00[TSI][hapmap]
rs16919526	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919544	0.81[MKK][hapmap]
rs16919566	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919597	1.00[TSI][hapmap]
rs41360051	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56321533	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57838567	1.00[EUR][1000 genomes]
rs58446058	1.00[EUR][1000 genomes]
rs59122208	1.00[EUR][1000 genomes]
rs59751066	1.00[EUR][1000 genomes]
rs61453862	1.00[EUR][1000 genomes]
rs6473892	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680307	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680313	1.00[EUR][1000 genomes]
rs73680318	1.00[EUR][1000 genomes]
rs73680324	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73682541	1.00[EUR][1000 genomes]
rs73682550	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73682559	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:54625400-54645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:54625400-54645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
8	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:54625600-54644400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:54625600-54647000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:54626400-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:54627200-54644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:54627200-54645600	Weak transcription	Dnd41	blood
14	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
15	chr8:54627600-54645800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:54627600-54649000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:54628000-54645800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:54629400-54645400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:54629400-54647400	Weak transcription	Small Intestine	intestine
20	chr8:54630000-54644200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:54631200-54643600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:54633000-54648200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:54635000-54643600	Weak transcription	HepG2	liver
24	chr8:54635000-54644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:54635000-54648200	Weak transcription	Right Atrium	heart
26	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:54635800-54650800	Weak transcription	Fetal Brain Male	brain
28	chr8:54636400-54643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:54636400-54644200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:54636400-54644400	Weak transcription	Gastric	stomach
31	chr8:54636400-54645000	Weak transcription	Aorta	Aorta
32	chr8:54636400-54649400	Weak transcription	Ovary	ovary
33	chr8:54637400-54648800	Strong transcription	Primary T cells from cord blood	blood
34	chr8:54638400-54645200	Weak transcription	Fetal Heart	heart
35	chr8:54638600-54648400	Weak transcription	Colonic Mucosa	Colon
36	chr8:54639200-54646800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:54639400-54645200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:54639400-54645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:54639400-54645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:54639400-54645600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:54639400-54647000	Strong transcription	Primary B cells from cord blood	blood
42	chr8:54639400-54647000	Strong transcription	Adipose Nuclei	Adipose
43	chr8:54639400-54649000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:54639600-54643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:54639600-54648000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:54639600-54648400	Strong transcription	Fetal Stomach	stomach
47	chr8:54639800-54643600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:54639800-54644600	Strong transcription	Liver	Liver
49	chr8:54639800-54645200	Strong transcription	Fetal Intestine Large	intestine
50	chr8:54639800-54645400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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