Variant report

Variant	rs6511014
Chromosome Location	chr19:19164227-19164228
allele	C/G
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	chr19:19161781-19166997	K562	blood:	n/a	n/a
2	POLR2A	chr19:19163980-19164301	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:19160954-19166976	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19161010..19164780-chr19:19249045..19252111,4	MCF-7	breast:
2	chr19:19042506..19044271-chr19:19163286..19165495,2	K562	blood:
3	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:
4	chr19:19163080..19165123-chr19:19247773..19249964,2	MCF-7	breast:

Variant related genes	Relation type
ARMC6	TF binding region
ENSG00000181035	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1007483	1.00[JPT][hapmap]
rs10221504	0.95[ASN][1000 genomes]
rs10403222	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403322	0.84[EUR][1000 genomes]
rs10404627	0.95[ASN][1000 genomes]
rs10405189	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405635	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10409164	0.95[ASN][1000 genomes]
rs10410451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10410568	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10414676	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10416783	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417974	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10422335	0.90[ASN][1000 genomes]
rs10422906	0.95[ASN][1000 genomes]
rs10423742	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10423815	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079543	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854005	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124921	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666120	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666340	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11670204	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670239	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11878368	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12016	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12975676	0.95[ASN][1000 genomes]
rs12975754	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12976302	0.92[ASN][1000 genomes]
rs12978822	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12979565	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12985799	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1859267	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012318	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2107263	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158320	1.00[ASN][1000 genomes]
rs2240094	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240095	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2269806	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2285851	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2313736	0.97[ASN][1000 genomes]
rs2872394	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3180770	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808179	1.00[ASN][1000 genomes]
rs4808184	0.95[ASN][1000 genomes]
rs4808900	0.87[AFR][1000 genomes]
rs4808902	0.97[ASN][1000 genomes]
rs4808904	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808905	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808906	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808907	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808911	1.00[ASN][1000 genomes]
rs4808913	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808916	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511010	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511011	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511015	1.00[ASN][1000 genomes]
rs6511017	1.00[ASN][1000 genomes]
rs6511018	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511021	0.85[CHB][hapmap]
rs7248399	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7248771	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7250131	0.95[ASN][1000 genomes]
rs7253244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255937	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7256648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7257635	0.91[ASN][1000 genomes]
rs7258637	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259510	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259609	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs757220	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8101529	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103431	0.95[ASN][1000 genomes]
rs8104754	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8104799	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106146	0.89[CHB][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107710	0.90[ASN][1000 genomes]
rs8109654	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110629	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111635	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8112566	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916898	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs929215	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304959	1.00[ASN][1000 genomes]
rs9676917	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3420595	chr19:19160552-19164950	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	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
rs6511014	TMEM161A	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
4	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
5	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
7	chr19:19149400-19164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
9	chr19:19151800-19166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
19	chr19:19153400-19167400	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:19153400-19168400	Strong transcription	Fetal Intestine Small	intestine
21	chr19:19153400-19168600	Strong transcription	Fetal Intestine Large	intestine
22	chr19:19153400-19169800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:19153400-19170400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr19:19153400-19170800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:19153400-19170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:19153400-19170800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:19153400-19171000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:19153400-19171200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:19155400-19165200	Weak transcription	NHDF-Ad	bronchial
30	chr19:19155600-19165000	Weak transcription	HUVEC	blood vessel
31	chr19:19156600-19172800	Strong transcription	Dnd41	blood
32	chr19:19157400-19166200	Strong transcription	Fetal Lung	lung
33	chr19:19157400-19169400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:19157800-19169400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:19158000-19164800	Strong transcription	Placenta	Placenta
36	chr19:19159600-19170800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr19:19159800-19170400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr19:19159800-19170800	Strong transcription	Primary T cells from cord blood	blood
39	chr19:19159800-19170800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:19159800-19171400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:19160000-19166400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr19:19160000-19169400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:19160000-19169600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:19160200-19169000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr19:19160200-19169400	Strong transcription	Adipose Nuclei	Adipose
46	chr19:19160200-19170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:19160200-19171000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:19160200-19172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:19160400-19166600	Strong transcription	K562	blood
50	chr19:19160400-19169400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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