Variant report

Variant	rs35542792
Chromosome Location	chr17:33903886-33903887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:33902614-33904022	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:33903526-33906572	U87	brain:	n/a	n/a
3	POLR2A	chr17:33901409-33907583	K562	blood:	n/a	n/a
4	POLR2A	chr17:33903425-33904395	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr17:33902306-33906596	K562	blood:	n/a	n/a
6	POLR2A	chr17:33903528-33904601	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:33903604-33904092	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:33901875-33906561	K562	blood:	n/a	n/a
9	POLR2A	chr17:33903238-33904300	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr17:33903569-33903928	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr17:33903533-33904478	K562	blood:	n/a	n/a
12	POLR2A	chr17:33903573-33906579	GM12891	blood:	n/a	n/a
13	POLR2A	chr17:33903468-33906548	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr17:33903449-33904307	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:33903558-33903902	K562	blood:	n/a	n/a
16	POLR2A	chr17:33903526-33904311	U87	brain:	n/a	n/a
17	POLR2A	chr17:33903579-33903978	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr17:33903478-33906443	PANC-1	pancreas:	n/a	n/a
19	TEAD4	chr17:33903560-33906457	K562	blood:	n/a	n/a
20	POLR2A	chr17:33903459-33906696	SK-N-MC	brain:	n/a	n/a
21	CHD2	chr17:33903371-33904996	K562	blood:	n/a	n/a
22	POLR2A	chr17:33902526-33906230	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr17:33903531-33906615	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr17:33903510-33906628	K562	blood:	n/a	n/a
25	POLR2A	chr17:33903545-33903992	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr17:33903542-33904318	HepG2	liver:	n/a	n/a
27	CCNT2	chr17:33903709-33904100	K562	blood:	n/a	n/a
28	POLR2A	chr17:33903709-33903916	Hela-S3	cervix:	n/a	n/a
29	ZNF263	chr17:33903473-33904397	HEK293-T-REx	kidney:	n/a	n/a
30	POLR2A	chr17:33901538-33907315	K562	blood:	n/a	n/a
31	POLR2A	chr17:33903553-33903895	K562	blood:	n/a	n/a
32	POLR2A	chr17:33903646-33903888	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr17:33902719-33906561	PBDE	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
2	chr17:33467495..33469178-chr17:33902506..33904916,2	K562	blood:
3	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
4	chr17:33467478..33469178-chr17:33902075..33904916,3	K562	blood:

No data

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000006125	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000242660	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10438814	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080352	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080356	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652234	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1634683	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550632	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17550716	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17638867	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs178736	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188959	0.82[ASN][1000 genomes]
rs2011897	0.82[ASN][1000 genomes]
rs225244	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225246	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225248	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs225249	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225250	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225252	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225256	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225258	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225260	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225261	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225264	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225265	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225266	0.95[ASN][1000 genomes]
rs225267	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225268	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225270	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225271	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225274	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225275	0.91[ASN][1000 genomes]
rs225276	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225278	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225279	0.91[ASN][1000 genomes]
rs225283	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225285	0.95[ASN][1000 genomes]
rs225286	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225287	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225288	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225294	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225296	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225298	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225300	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225303	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225305	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225307	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225308	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226084	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226087	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226089	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226090	0.81[EUR][1000 genomes]
rs2376177	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428464	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523114	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523116	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2626625	0.81[EUR][1000 genomes]
rs2626626	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3859282	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859284	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796098	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796100	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796101	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796104	0.82[ASN][1000 genomes]
rs6505484	0.91[ASN][1000 genomes]
rs6505485	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505486	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505487	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208672	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210966	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211724	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7213804	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214250	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214742	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217378	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217533	0.82[ASN][1000 genomes]
rs7221203	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72828038	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829922	0.82[ASN][1000 genomes]
rs72829923	0.82[ASN][1000 genomes]
rs72829925	0.82[ASN][1000 genomes]
rs72829927	0.82[ASN][1000 genomes]
rs72829932	0.82[ASN][1000 genomes]
rs7405825	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8064895	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071584	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072676	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8074800	0.91[ASN][1000 genomes]
rs8077826	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303690	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649	0.82[ASN][1000 genomes]
rs9912939	0.81[EUR][1000 genomes];0.91[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35542792	LOC645744	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33895800-33904200	Weak transcription	Right Atrium	heart
2	chr17:33895800-33904800	Weak transcription	Ovary	ovary
3	chr17:33896000-33904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:33896200-33905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:33896200-33905000	Weak transcription	Aorta	Aorta
6	chr17:33896400-33904000	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:33896400-33904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33896400-33904200	Weak transcription	Psoas Muscle	Psoas
9	chr17:33896400-33904600	Weak transcription	Stomach Mucosa	stomach
10	chr17:33896400-33904800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:33896400-33904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:33896400-33904800	Weak transcription	Colonic Mucosa	Colon
13	chr17:33896400-33904800	Weak transcription	Esophagus	oesophagus
14	chr17:33896400-33904800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:33896400-33904800	Weak transcription	Right Ventricle	heart
16	chr17:33896400-33905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:33896400-33905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:33896600-33904400	Weak transcription	Brain Substantia Nigra	brain
19	chr17:33896800-33904000	Weak transcription	Pancreas	Pancrea
20	chr17:33896800-33904000	Weak transcription	Osteobl	bone
21	chr17:33896800-33904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:33897000-33904400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:33897400-33904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:33897600-33904400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:33897600-33904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:33897600-33904400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:33897600-33904400	Weak transcription	Fetal Brain Male	brain
28	chr17:33897600-33904400	Weak transcription	HUVEC	blood vessel
29	chr17:33897600-33904600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:33897600-33904600	Weak transcription	Fetal Kidney	kidney
31	chr17:33897600-33905000	Weak transcription	Gastric	stomach
32	chr17:33897600-33905000	Weak transcription	Small Intestine	intestine
33	chr17:33897600-33905200	Weak transcription	Spleen	Spleen
34	chr17:33897800-33904600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr17:33898200-33904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:33898400-33904000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:33898400-33904200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:33898600-33904000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:33898600-33905000	Weak transcription	Lung	lung
40	chr17:33898800-33904000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:33899000-33904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:33899000-33904200	Weak transcription	Fetal Lung	lung
43	chr17:33899400-33904000	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:33899600-33904000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:33900000-33904000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr17:33900000-33904400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:33900000-33904400	Weak transcription	Fetal Intestine Small	intestine
48	chr17:33900200-33905000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:33900600-33904000	Strong transcription	HSMM	muscle
50	chr17:33901200-33904000	Weak transcription	Fetal Stomach	stomach

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