Variant report

Variant	rs17052462
Chromosome Location	chr5:179051274-179051275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:306)
CpG islands
(count:0)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:179050996-179051740	GM12878	blood:	n/a	chr5:179051306-179051315 chr5:179051304-179051317
2	POLR2A	chr5:179049682-179051896	K562	blood:	n/a	n/a
3	REST	chr5:179050205-179051361	H1-neurons	neurons:	n/a	chr5:179050524-179050537 chr5:179050524-179050544 chr5:179050527-179050540
4	POLR2A	chr5:179049958-179051787	GM12891	blood:	n/a	n/a
5	MAX	chr5:179049581-179052171	K562	blood:	n/a	n/a
6	POLR2A	chr5:179047206-179051952	GM12878	blood:	n/a	n/a
7	TCF12	chr5:179050050-179051441	ECC-1	luminal epithelium:	n/a	chr5:179050732-179050739
8	TCF12	chr5:179049564-179051398	A549	lung:	n/a	chr5:179050732-179050739
9	TBP	chr5:179050438-179051837	Hela-S3	cervix:	n/a	n/a
10	EP300	chr5:179049688-179051279	ECC-1	luminal epithelium:	n/a	chr5:179050405-179050414 chr5:179050982-179050998
11	YY1	chr5:179049647-179051700	GM12892	blood:	n/a	chr5:179051234-179051245 chr5:179050403-179050412 chr5:179050398-179050408 chr5:179050406-179050420 chr5:179051155-179051164
12	MAX	chr5:179049681-179051857	Hela-S3	cervix:	n/a	n/a
13	MAZ	chr5:179049655-179052146	K562	blood:	n/a	n/a
14	POLR2A	chr5:179049656-179052058	K562	blood:	n/a	n/a
15	POLR2A	chr5:179049713-179051451	H1-neurons	neurons:	n/a	n/a
16	CREB1	chr5:179050251-179051285	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:179050099-179051751	HepG2	liver:	n/a	n/a
18	E2F6	chr5:179050534-179051604	H1-hESC	embryonic stem cell:	n/a	chr5:179050941-179050950 chr5:179050880-179050889 chr5:179050774-179050783 chr5:179050891-179050905 chr5:179051155-179051164 chr5:179050721-179050730
19	POLR2A	chr5:179049692-179051794	HUVEC	blood vessel:	n/a	n/a
20	TAF1	chr5:179050389-179051372	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:179049295-179051786	MCF10A-Er-Src	breast:	n/a	n/a
22	UBTF	chr5:179051131-179051793	K562	blood:	n/a	n/a
23	CREB1	chr5:179049564-179051780	HepG2	liver:	n/a	n/a
24	PML	chr5:179049576-179051610	MCF-7	breast:	n/a	n/a
25	POLR2A	chr5:179049984-179051776	GM12891	blood:	n/a	n/a
26	HCFC1	chr5:179049700-179051326	K562	blood:	n/a	n/a
27	ZNF263	chr5:179050074-179051594	HEK293-T-REx	kidney:	n/a	n/a
28	SPI1	chr5:179051139-179051419	K562	blood:	n/a	chr5:179051306-179051315 chr5:179051304-179051317
29	POLR2A	chr5:179049950-179051791	Hela-S3	cervix:	n/a	n/a
30	MAX	chr5:179050447-179051825	HepG2	liver:	n/a	n/a
31	POLR2A	chr5:179050876-179051849	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chr5:179050238-179051356	GM12878	blood:	n/a	chr5:179051306-179051317
33	NFIC	chr5:179049947-179051552	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:179050004-179051380	A549	lung:	n/a	n/a
35	POLR2A	chr5:179049614-179051921	HL-60	blood:	n/a	n/a
36	SPI1	chr5:179051093-179051450	GM12878	blood:	n/a	chr5:179051306-179051315 chr5:179051304-179051317
37	BACH1	chr5:179050488-179051342	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F6	chr5:179049764-179051771	K562	blood:	n/a	chr5:179050941-179050950 chr5:179050880-179050889 chr5:179050774-179050783 chr5:179050891-179050905 chr5:179051155-179051164 chr5:179050417-179050426 chr5:179050721-179050730
39	REST	chr5:179049955-179051916	HL-60	blood:	n/a	chr5:179050524-179050537 chr5:179050524-179050544 chr5:179050527-179050540
40	POLR2A	chr5:179050897-179051702	HepG2	liver:	n/a	n/a
41	STAT5A	chr5:179050896-179051296	GM12878	blood:	n/a	n/a
42	TCF7L2	chr5:179050156-179051383	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr5:179049664-179051863	ECC-1	luminal epithelium:	n/a	n/a
44	TEAD4	chr5:179049946-179052101	K562	blood:	n/a	n/a
45	TAF7	chr5:179049642-179051421	H1-hESC	embryonic stem cell:	n/a	n/a
46	SPI1	chr5:179051187-179051357	GM12878	blood:	n/a	chr5:179051306-179051315 chr5:179051304-179051317
47	MAX	chr5:179049640-179051743	ECC-1	luminal epithelium:	n/a	n/a
48	CHD1	chr5:179047686-179052125	IMR90	lung:	n/a	chr5:179050801-179050811 chr5:179051151-179051161
49	TBP	chr5:179049778-179051672	H1-hESC	embryonic stem cell:	n/a	n/a
50	RCOR1	chr5:179050435-179052086	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:69753495..69755844-chr5:179048677..179051620,2	MCF-7	breast:
2	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:
3	chr5:179051109..179052652-chr5:179157575..179159893,2	K562	blood:
4	chr5:179047581..179051358-chr5:179102429..179108878,16	K562	blood:
5	chr5:179049088..179052063-chr5:179245796..179250145,6	MCF-7	breast:
6	chr5:179003044..179005228-chr5:179048934..179051877,3	K562	blood:
7	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
8	chr14:75745270..75745773-chr5:179050980..179051651,2	Hela-S3	cervix:
9	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
10	chr5:178985192..178988541-chr5:179048594..179052191,5	MCF-7	breast:
11	chr1:44411130..44412112-chr5:179050533..179051528,2	Hela-S3	cervix:
12	chr5:179013908..179017053-chr5:179048415..179051520,3	K562	blood:
13	chr5:178882272..178884920-chr5:179049238..179052060,2	K562	blood:
14	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
15	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
16	chr5:179047831..179051506-chr5:179245810..179250436,9	MCF-7	breast:
17	chr5:179023314..179026919-chr5:179048927..179051890,4	MCF-7	breast:
18	chr5:178986094..178988194-chr5:179049451..179052935,4	MCF-7	breast:
19	chr5:179049208..179051645-chr5:179125705..179129690,6	MCF-7	breast:
20	chr15:72523714..72524571-chr5:179050555..179051464,2	Hela-S3	cervix:
21	chr5:179048811..179053260-chr5:179101652..179108160,8	MCF-7	breast:
22	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
23	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
24	chr5:178989508..178991362-chr5:179048413..179051335,2	MCF-7	breast:
25	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
26	chr12:7072083..7074369-chr5:179050327..179052683,2	MCF-7	breast:
27	chr5:179048156..179052144-chr5:179103013..179109071,12	K562	blood:
28	chr17:7387555..7388114-chr5:179050649..179051622,2	Hela-S3	cervix:
29	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
30	chr17:73178705..73180897-chr5:179050924..179052648,2	MCF-7	breast:
31	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
32	chr5:179049048..179052854-chr5:179122221..179127718,16	MCF-7	breast:
33	chr13:101327051..101327790-chr5:179050471..179051305,2	NB4	blood:
34	chr16:87350846..87351666-chr5:179050646..179051491,2	NB4	blood:
35	chr5:179050119..179051814-chr5:179134702..179137215,4	MCF-7	breast:
36	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:
37	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
38	chr11:62609117..62609653-chr5:179050747..179051683,2	NB4	blood:
39	chr17:80415890..80416981-chr5:179050464..179051395,3	Hela-S3	cervix:
40	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
41	chr5:179049252..179051807-chr5:179078099..179079783,3	MCF-7	breast:
42	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
43	chr5:179049533..179052334-chr5:179104256..179107492,4	MCF-7	breast:
44	chr5:179049533..179051991-chr5:180649079..180651158,2	MCF-7	breast:
45	chr2:61403577..61406142-chr5:179049162..179051575,2	MCF-7	breast:
46	chr5:40835087..40836243-chr5:179050438..179051510,3	NB4	blood:
47	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:
48	chr1:54871772..54872321-chr5:179050452..179051337,2	Hela-S3	cervix:
49	chr5:178992676..178996882-chr5:179050015..179052234,4	K562	blood:

No data

Variant related genes	Relation type
HNRNPH1	TF binding region
ENSG00000170345	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000146063	Chromatin interaction
ENSG00000259215	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000125247	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000228259	Chromatin interaction
ENSG00000141562	Chromatin interaction
ENSG00000270006	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000257084	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000173209	Chromatin interaction
ENSG00000237950	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000204659	Chromatin interaction
ENSG00000245750	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000157216	Chromatin interaction
ENSG00000207708	Chromatin interaction
ENSG00000207713	Chromatin interaction
ENSG00000265458	Chromatin interaction
ENSG00000250674	Chromatin interaction
ENSG00000264732	Chromatin interaction
ENSG00000271969	Chromatin interaction
ENSG00000260456	Chromatin interaction
ENSG00000188612	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10076293	0.84[ASN][1000 genomes]
rs4131080	0.85[ASN][1000 genomes]
rs4376229	0.85[ASN][1000 genomes]
rs4608884	0.82[ASN][1000 genomes]
rs8180434	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv823357	chr5:179046318-179058193	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17052462	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179048000-179051800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179048200-179051600	Active TSS	Ovary	ovary
3	chr5:179048400-179051400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:179048800-179051400	Active TSS	Lung	lung
5	chr5:179049000-179051400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:179049000-179051400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:179049000-179051400	Active TSS	Gastric	stomach
8	chr5:179049000-179051400	Active TSS	Left Ventricle	heart
9	chr5:179049000-179051400	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr5:179049000-179051400	Active TSS	Spleen	Spleen
11	chr5:179049000-179051400	Active TSS	HSMMtube	muscle
12	chr5:179049000-179051600	Active TSS	Aorta	Aorta
13	chr5:179049000-179051600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:179049000-179051600	Active TSS	Esophagus	oesophagus
15	chr5:179049000-179051600	Active TSS	Psoas Muscle	Psoas
16	chr5:179049000-179051600	Active TSS	Small Intestine	intestine
17	chr5:179049000-179051800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:179049200-179051600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:179049200-179051600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr5:179049200-179051600	Active TSS	Liver	Liver
21	chr5:179049200-179051600	Active TSS	Brain Anterior Caudate	brain
22	chr5:179049200-179051600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:179049200-179051600	Active TSS	Brain Substantia Nigra	brain
24	chr5:179049200-179051600	Active TSS	Colon Smooth Muscle	Colon
25	chr5:179049200-179051600	Active TSS	Stomach Mucosa	stomach
26	chr5:179049400-179051400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:179049400-179051400	Active TSS	Brain Angular Gyrus	brain
28	chr5:179049400-179051400	Active TSS	Hela-S3	cervix
29	chr5:179049400-179051600	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:179049400-179051600	Active TSS	Fetal Kidney	kidney
31	chr5:179049600-179051400	Active TSS	Primary T cells from cord blood	blood
32	chr5:179049600-179051400	Active TSS	Fetal Intestine Large	intestine
33	chr5:179049800-179051400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:179049800-179051400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:179049800-179051400	Active TSS	Brain Hippocampus Middle	brain
36	chr5:179049800-179051400	Active TSS	Fetal Lung	lung
37	chr5:179049800-179051400	Active TSS	A549	lung
38	chr5:179049800-179051600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:179049800-179051800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:179049800-179051800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:179050000-179051600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:179050000-179051600	Bivalent/Poised TSS	HepG2	liver
43	chr5:179050200-179051400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:179050200-179051400	Active TSS	Fetal Intestine Small	intestine
45	chr5:179050200-179051400	Active TSS	Fetal Stomach	stomach
46	chr5:179050200-179051800	Transcr. at gene 5' and 3'	Right Atrium	heart
47	chr5:179050400-179051400	Active TSS	Brain Germinal Matrix	brain
48	chr5:179050400-179051400	Active TSS	Fetal Brain Female	brain
49	chr5:179050600-179051600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:179051000-179051600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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