Variant report

Variant	rs6511021
Chromosome Location	chr19:19241595-19241596
allele	C/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	POLR2A	chr19:19241590-19241665	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19239875..19242628-chr19:19248589..19251207,2	MCF-7	breast:
2	chr19:19229446..19234006-chr19:19241302..19251526,15	K562	blood:

Variant related genes	Relation type
TMEM161A	TF binding region
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1007483	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs10405635	0.85[CHB][hapmap]
rs10410451	0.85[CHB][hapmap]
rs10414676	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416783	0.85[CHB][hapmap]
rs10417974	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs10423742	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1079543	0.85[CHB][hapmap]
rs10854005	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs11666340	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs11666627	0.85[CHB][hapmap]
rs11670204	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs12016	0.85[CHB][hapmap]
rs12976302	0.86[EUR][1000 genomes]
rs12979565	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs12979841	0.80[ASN][1000 genomes]
rs12985799	0.85[CHB][hapmap]
rs1859267	0.85[CHB][hapmap]
rs2012318	0.85[CHB][hapmap]
rs2040561	0.82[EUR][1000 genomes]
rs2040562	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2240094	0.85[CHB][hapmap]
rs2269806	0.85[CHB][hapmap]
rs2285851	0.85[CHB][hapmap]
rs2872394	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs3180770	0.85[CHB][hapmap]
rs3826993	0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs4808906	0.85[CHB][hapmap]
rs4808907	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs4808913	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs4808916	0.85[CHB][hapmap]
rs4808924	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511010	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs6511014	0.85[CHB][hapmap]
rs6511018	0.85[CHB][hapmap]
rs6511020	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs7248399	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7253244	0.85[CHB][hapmap]
rs7256648	0.85[CHB][hapmap]
rs7259609	0.85[CHB][hapmap]
rs7408301	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs757220	1.00[CHB][hapmap]
rs757221	0.80[ASN][1000 genomes]
rs8104799	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs8110629	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs8111634	0.85[CHB][hapmap]
rs929215	0.82[CEU][hapmap];0.85[CHB][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6511021	TMEM161A	cis	Muscle Skeletal	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

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	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
5	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
6	chr19:19220800-19242800	Weak transcription	Osteobl	bone
7	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
8	chr19:19221800-19243200	Weak transcription	A549	lung
9	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:19226800-19242600	Weak transcription	HepG2	liver
11	chr19:19230800-19242800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:19230800-19242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:19230800-19243000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:19230800-19248400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:19231000-19242800	Weak transcription	Brain Substantia Nigra	brain
16	chr19:19231000-19242800	Weak transcription	Left Ventricle	heart
17	chr19:19231000-19245400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr19:19231200-19242800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:19231200-19248000	Weak transcription	Fetal Brain Male	brain
20	chr19:19231800-19242800	Weak transcription	Brain Germinal Matrix	brain
21	chr19:19231800-19242800	Weak transcription	Ovary	ovary
22	chr19:19231800-19243000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:19231800-19245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:19232000-19242800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:19232000-19242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:19232000-19242800	Weak transcription	Pancreas	Pancrea
27	chr19:19232000-19242800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:19232200-19245200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr19:19232200-19245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:19232400-19242800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:19232400-19242800	Weak transcription	Right Ventricle	heart
32	chr19:19232400-19243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:19232400-19243000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:19232600-19242800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:19232600-19242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:19232600-19242800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:19232600-19242800	Weak transcription	Lung	lung
38	chr19:19232600-19248000	Weak transcription	NHLF	lung
39	chr19:19232800-19242800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:19232800-19242800	Weak transcription	Esophagus	oesophagus
41	chr19:19233200-19242800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:19233200-19245600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:19233400-19242800	Weak transcription	Thymus	Thymus
44	chr19:19234400-19242800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:19234600-19242800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:19234600-19242800	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:19234600-19242800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:19234600-19242800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:19234600-19243000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr19:19234600-19248000	Weak transcription	Primary B cells from cord blood	blood

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