Variant report

Variant	rs6511019
Chromosome Location	chr19:19237273-19237274
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	chr19:19231407..19234278-chr19:19235111..19237652,2	K562	blood:

Variant related genes	Relation type
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10403272	1.00[ASW][hapmap];0.83[CEU][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs10410399	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10421019	0.91[MEX][hapmap]
rs1064389	1.00[LWK][hapmap]
rs11085249	0.83[CEU][hapmap]
rs11729	0.91[MEX][hapmap]
rs2013813	1.00[ASW][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs2228601	1.00[LWK][hapmap]
rs2269807	0.81[EUR][1000 genomes]
rs4808176	1.00[ASW][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs4808177	0.81[EUR][1000 genomes]
rs4808182	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4808917	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs4808923	0.90[MEX][hapmap]
rs756792	0.91[MEX][hapmap]

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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6511019	ZNF14	cis	parietal	SCAN
rs6511019	TMEM161A	cis	Artery Tibial	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
5	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
6	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
7	chr19:19220800-19242800	Weak transcription	Osteobl	bone
8	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
9	chr19:19221800-19243200	Weak transcription	A549	lung
10	chr19:19222000-19240800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:19226800-19242600	Weak transcription	HepG2	liver
13	chr19:19227000-19239800	Weak transcription	Fetal Kidney	kidney
14	chr19:19230800-19242800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:19230800-19242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:19230800-19243000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:19230800-19248400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:19231000-19242800	Weak transcription	Brain Substantia Nigra	brain
19	chr19:19231000-19242800	Weak transcription	Left Ventricle	heart
20	chr19:19231000-19245400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:19231200-19242800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:19231200-19248000	Weak transcription	Fetal Brain Male	brain
23	chr19:19231800-19240800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:19231800-19240800	Weak transcription	Gastric	stomach
25	chr19:19231800-19242800	Weak transcription	Brain Germinal Matrix	brain
26	chr19:19231800-19242800	Weak transcription	Ovary	ovary
27	chr19:19231800-19243000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:19231800-19245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:19232000-19238000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:19232000-19240000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:19232000-19242800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:19232000-19242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:19232000-19242800	Weak transcription	Pancreas	Pancrea
34	chr19:19232000-19242800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:19232200-19245200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:19232200-19245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:19232400-19239800	Weak transcription	Fetal Intestine Small	intestine
38	chr19:19232400-19242800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:19232400-19242800	Weak transcription	Right Ventricle	heart
40	chr19:19232400-19243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:19232400-19243000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:19232600-19239800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:19232600-19240800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:19232600-19240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:19232600-19242800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:19232600-19242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:19232600-19242800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:19232600-19242800	Weak transcription	Lung	lung
49	chr19:19232600-19248000	Weak transcription	NHLF	lung
50	chr19:19232800-19242800	Weak transcription	Brain Cingulate Gyrus	brain

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