Variant report

Variant	rs11871963
Chromosome Location	chr17:16351816-16351817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:16341231-16355258	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:16341417-16352882	K562	blood:	n/a	n/a
3	POLR2A	chr17:16351662-16352202	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:16351072-16352734	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr17:16349352-16353024	U87	brain:	n/a	n/a
6	POLR2A	chr17:16351733-16352196	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr17:16351782-16351962	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:16341463-16352887	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr17:16341555-16352948	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:16348623-16352798	K562	blood:	n/a	n/a
11	POLR2A	chr17:16350880-16352813	K562	blood:	n/a	n/a
12	POLR2A	chr17:16351505-16351961	A549	lung:	n/a	n/a
13	POLR2A	chr17:16348646-16352887	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr17:16348723-16352838	GM12891	blood:	n/a	n/a
15	POLR2A	chr17:16348660-16352835	HepG2	liver:	n/a	n/a
16	POLR2A	chr17:16351742-16351895	A549	lung:	n/a	n/a
17	POLR2A	chr17:16351756-16352382	K562	blood:	n/a	n/a
18	POLR2A	chr17:16351558-16352862	HepG2	liver:	n/a	n/a
19	POLR2A	chr17:16348686-16352819	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:16351653-16351921	K562	blood:	n/a	n/a
21	POLR2A	chr17:16350795-16352168	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr17:16348610-16352875	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:16350918-16352921	HCT-116	colon:	n/a	n/a
24	POLR2A	chr17:16348610-16352874	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr17:16341382-16353056	U87	brain:	n/a	n/a
26	POLR2A	chr17:16351017-16352840	HepG2	liver:	n/a	n/a
27	POLR2A	chr17:16344287-16352816	A549	lung:	n/a	n/a
28	POLR2A	chr17:16351765-16351911	A549	lung:	n/a	n/a
29	POLR2A	chr17:16341382-16352832	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr17:16350872-16352999	K562	blood:	n/a	n/a
31	POLR2A	chr17:16348528-16353069	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr17:16350814-16352927	HCT-116	colon:	n/a	n/a
33	POLR2A	chr17:16341297-16352911	K562	blood:	n/a	n/a
34	POLR2A	chr17:16349440-16352147	PANC-1	pancreas:	n/a	n/a
35	BCL3	chr17:16351267-16353048	A549	lung:	n/a	n/a
36	POLR2A	chr17:16341339-16352136	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr17:16349352-16352999	U87	brain:	n/a	n/a
38	POLR2A	chr17:16341169-16352923	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr17:16341165-16355366	HepG2	liver:	n/a	n/a
40	POLR2A	chr17:16341299-16354759	K562	blood:	n/a	n/a
41	POLR2A	chr17:16351748-16352133	HepG2	liver:	n/a	n/a
42	POLR2A	chr17:16350845-16352874	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr17:16350955-16352534	HepG2	liver:	n/a	n/a
44	POLR2A	chr17:16350898-16351999	HUVEC	blood vessel:	n/a	n/a
45	JUND	chr17:16351759-16352608	A549	lung:	n/a	chr17:16352338-16352345
46	POLR2A	chr17:16341558-16352898	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr17:16341455-16353062	U87	brain:	n/a	n/a
48	ZNF263	chr17:16351745-16352741	HEK293-T-REx	kidney:	n/a	n/a
49	POLR2A	chr17:16348425-16352827	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16282285..16286163-chr17:16348924..16355139,5	K562	blood:

No data

Variant related genes	Relation type
FAM211A	TF binding region
ENSG00000170315	Chromatin interaction
ENSG00000265401	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1029809	1.00[JPT][hapmap]
rs11078342	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078343	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078344	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11078345	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11650427	1.00[JPT][hapmap]
rs11653149	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11654069	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11867498	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11869614	0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870279	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871017	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871929	0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871958	0.96[GIH][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12936240	0.81[AMR][1000 genomes]
rs12938294	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940078	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17552310	0.96[GIH][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17715447	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34166276	0.81[AMR][1000 genomes]
rs34192401	0.81[AMR][1000 genomes]
rs34419652	0.81[AMR][1000 genomes]
rs34572942	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34577506	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779276	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34793697	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34982046	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35034622	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35247166	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269706	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35377488	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35474528	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35540454	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35774281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117589	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56097826	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217211	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941411	0.86[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11871963	C17orf45	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16343800-16354600	Strong transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:16343800-16363400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:16344600-16353000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:16344600-16372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:16344800-16352800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr17:16344800-16355000	Strong transcription	Fetal Stomach	stomach
7	chr17:16345000-16352600	Strong transcription	Aorta	Aorta
8	chr17:16345000-16354600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:16345200-16354600	Strong transcription	Thymus	Thymus
10	chr17:16345600-16352800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:16345600-16353400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:16345800-16352800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:16345800-16363200	Weak transcription	Small Intestine	intestine
14	chr17:16345800-16373200	Weak transcription	Psoas Muscle	Psoas
15	chr17:16346000-16353600	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr17:16346000-16354600	Strong transcription	Primary T cells from cord blood	blood
17	chr17:16346200-16352400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:16346200-16352800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:16346200-16352800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr17:16346200-16353400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr17:16346400-16352600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:16346400-16352600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:16346400-16352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:16346400-16353400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:16346400-16353400	Strong transcription	Osteobl	bone
26	chr17:16346400-16354200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:16346400-16362400	Weak transcription	Hela-S3	cervix
28	chr17:16346400-16362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr17:16346400-16363800	Weak transcription	Fetal Kidney	kidney
30	chr17:16346600-16353400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:16346800-16352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:16346800-16352800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr17:16346800-16353000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:16347000-16356800	Weak transcription	HSMMtube	muscle
35	chr17:16347000-16363000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:16347000-16366400	Weak transcription	NHDF-Ad	bronchial
37	chr17:16347200-16352600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:16347200-16352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:16347400-16352200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:16347400-16356400	Weak transcription	Fetal Brain Male	brain
41	chr17:16347600-16353000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:16347600-16354600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:16347800-16353000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:16347800-16367000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:16348000-16352200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:16348000-16352200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:16348000-16352800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr17:16348000-16353000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:16348000-16353400	Strong transcription	NHLF	lung
50	chr17:16348000-16354800	Strong transcription	Dnd41	blood

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