Variant report

Variant	rs4251710
Chromosome Location	chr17:34136037-34136038
allele	A/C
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	RCOR1	chr17:34135432-34137069	K562	blood:	n/a	n/a
2	E2F6	chr17:34135939-34136762	K562	blood:	n/a	chr17:34136475-34136484 chr17:34136713-34136723 chr17:34136506-34136516 chr17:34136504-34136513 chr17:34136437-34136446 chr17:34136641-34136653
3	SIN3AK20	chr17:34135561-34137097	A549	lung:	n/a	n/a
4	CTCF	chr17:34135924-34136340	Pancreas_OC	pancreas:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
5	GATA3	chr17:34135819-34136511	T-47D	breast:	n/a	chr17:34135844-34135851
6	STAT1	chr17:34135407-34136726	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr17:34135945-34136714	A549	lung:	n/a	n/a
8	RUNX3	chr17:34135813-34136834	GM12878	blood:	n/a	chr17:34136187-34136196 chr17:34136187-34136196
9	ZNF143	chr17:34135895-34136673	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr17:34135792-34136781	GM12878	blood:	n/a	chr17:34136491-34136499
11	MYC	chr17:34135914-34136222	K562	blood:	n/a	n/a
12	SP1	chr17:34135848-34136738	GM12878	blood:	n/a	chr17:34136426-34136447
13	TEAD4	chr17:34135801-34136831	ECC-1	luminal epithelium:	n/a	n/a
14	TBP	chr17:34135722-34137016	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr17:34135960-34136110	GM12872	blood:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
16	TCF12	chr17:34135831-34136853	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr17:34136020-34136170	MCF-7	breast:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
18	STAT5A	chr17:34135655-34137078	GM12878	blood:	n/a	chr17:34136845-34136857 chr17:34136895-34136907
19	ELK1	chr17:34135876-34136602	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr17:34135960-34136110	BJ	skin:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
21	CTCF	chr17:34135980-34136130	HEK293	kidney:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
22	TAF1	chr17:34135795-34137000	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr17:34135956-34136695	GM12878	blood:	n/a	chr17:34136422-34136438
24	BACH1	chr17:34135957-34136577	K562	blood:	n/a	n/a
25	CTCF	chr17:34136000-34136150	AG10803	skin:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
26	BHLHE40	chr17:34135796-34136721	K562	blood:	n/a	chr17:34136703-34136719 chr17:34136492-34136508
27	E2F4	chr17:34135877-34136781	K562	blood:	n/a	chr17:34136475-34136484 chr17:34136713-34136723 chr17:34136506-34136516 chr17:34136504-34136513 chr17:34136437-34136446 chr17:34136641-34136653
28	CTCF	chr17:34135923-34136190	Fibrobl	skin:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
29	POLR2A	chr17:34135622-34141134	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr17:34135460-34137903	SK-N-SH	brain:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
31	ZBTB33	chr17:34135811-34136541	A549	lung:	n/a	n/a
32	POLR2A	chr17:34135568-34137805	Hela-S3	cervix:	n/a	n/a
33	MAFK	chr17:34135457-34136662	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr17:34135815-34137028	GM18526	blood:	n/a	n/a
35	EP300	chr17:34135851-34136646	GM12878	blood:	n/a	chr17:34136422-34136438
36	CTCF	chr17:34135980-34136130	AG09319	gingival:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
37	RAD21	chr17:34135957-34136131	K562	blood:	n/a	chr17:34136057-34136066 chr17:34136051-34136070
38	FOS	chr17:34135910-34136392	MCF10A-Er-Src	breast:	n/a	n/a
39	MAZ	chr17:34135866-34137056	HepG2	liver:	n/a	n/a
40	EP300	chr17:34135745-34136877	SK-N-SH	brain:	n/a	chr17:34136422-34136438
41	YY1	chr17:34135884-34137202	A549	lung:	n/a	chr17:34136557-34136566 chr17:34136901-34136912 chr17:34136710-34136724 chr17:34136709-34136720 chr17:34136703-34136717 chr17:34136719-34136729 chr17:34136502-34136516 chr17:34136716-34136736 chr17:34136698-34136712 chr17:34136719-34136741 chr17:34136475-34136484 chr17:34136706-34136720 chr17:34136470-34136484 chr17:34136504-34136513 chr17:34136722-34136730
42	CTCF	chr17:34135980-34136130	HUVEC	blood vessel:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
43	CEBPB	chr17:34135656-34136657	H1-hESC	embryonic stem cell:	n/a	chr17:34136437-34136445 chr17:34136139-34136151
44	FOSL2	chr17:34135668-34136827	A549	lung:	n/a	chr17:34136435-34136444 chr17:34136701-34136710 chr17:34136702-34136711
45	POLR2A	chr17:34135908-34136724	HepG2	liver:	n/a	n/a
46	EBF1	chr17:34135980-34136874	GM12878	blood:	n/a	n/a
47	CTCF	chr17:34135960-34136110	K562	blood:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
48	RAD21	chr17:34135889-34136157	SK-N-SH_RA	brain:	n/a	chr17:34136057-34136066 chr17:34136051-34136070
49	EP300	chr17:34135999-34136424	K562	blood:	n/a	n/a
50	YY1	chr17:34135721-34137161	SK-N-SH	brain:	n/a	chr17:34136557-34136566 chr17:34136901-34136912 chr17:34136710-34136724 chr17:34136709-34136720 chr17:34136703-34136717 chr17:34136719-34136729 chr17:34136502-34136516 chr17:34136716-34136736 chr17:34136698-34136712 chr17:34136719-34136741 chr17:34136475-34136484 chr17:34136706-34136720 chr17:34136470-34136484 chr17:34136504-34136513 chr17:34136722-34136730

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:34136012-34136062	RPTEC	kidney:	n/a
2	chr17:34136012-34136062	LNCaP	prostate:	n/a
3	chr17:34136012-34136062	ProgFib	skin:	n/a
4	chr17:34136012-34136062	HNPCEpiC	eye:	n/a
5	chr17:34136012-34136062	MCF10A-Er-Src	breast:	n/a
6	chr17:34136012-34136062	HRCEpiC	kidney:	n/a
7	chr17:34136012-34136062	SK-N-SH_RA	brain:	n/a
8	chr17:34136012-34136062	HRPEpiC	eye:	n/a
9	chr17:34136012-34136062	AG09319	gingival:	n/a
10	chr17:34136012-34136062	HEEpiC	esophagus:	n/a
11	chr17:34136012-34136062	BJ	skin:	n/a
12	chr17:34136012-34136062	AG09309	skin:	n/a
13	chr17:34136012-34136062	MCF-7	breast:	n/a
14	chr17:34136012-34136062	SAEC	small airway:	n/a
15	chr17:34136012-34136062	GM12891	blood:	n/a
16	chr17:34136012-34136062	Hepatocyte	liver:	n/a
17	chr17:34136012-34136062	AG04450	lung:	fetal
18	chr17:34136012-34136062	A549	lung:	n/a
19	chr17:34136012-34136062	SK-N-MC	brain:	n/a
20	chr17:34136012-34136062	HCT-116	colon:	n/a
21	chr17:34136012-34136062	BE2_C	brain:	n/a
22	chr17:34136012-34136062	PrEC	prostate:	n/a
23	chr17:34136012-34136062	Hela-S3	cervix:	n/a
24	chr17:34136012-34136062	HMEC	breast:	n/a
25	chr17:34136012-34136062	U87	brain:	n/a
26	chr17:34136012-34136062	NT2-D1	testis:	n/a
27	chr17:34136012-34136062	NB4	blood:	n/a
28	chr17:34136012-34136062	HCM	heart:	n/a
29	chr17:34136012-34136062	IMR90	lung:	fetal
30	chr17:34136012-34136062	GM19239	blood:	n/a
31	chr17:34136012-34136062	HCF	heart:	n/a
32	chr17:34136012-34136062	NH-A	brain:	n/a
33	chr17:34136012-34136062	PANC-1	pancreas:	n/a
34	chr17:34136012-34136062	GM12878	blood:	n/a
35	chr17:34136012-34136062	AG04449	skin:	fetal
36	chr17:34136012-34136062	GM12892	blood:	n/a
37	chr17:34136012-34136062	HPAEpiC	pulmonary alveolar:	n/a
38	chr17:34136012-34136062	HUVEC	blood vessel:	n/a
39	chr17:34136012-34136062	HEK293	kidney:	embryo
40	chr17:34136012-34136062	T-47D	breast:	n/a
41	chr17:34136012-34136062	H1-hESC	embryonic stem cell:	embryo
42	chr17:34136012-34136062	ovcar-3	ovarian:	n/a
43	chr17:34136012-34136062	K562	blood:	n/a
44	chr17:34136012-34136062	CMK	blood:	n/a
45	chr17:34136012-34136062	NHBE	bronchial:	n/a
46	chr17:34136012-34136062	Caco-2	colon:	n/a
47	chr17:34136012-34136062	GM06990	blood:	n/a
48	chr17:34136012-34136062	PFSK-1	brain:	n/a
49	chr17:34136012-34136062	HL-60	blood:	n/a
50	chr17:34136012-34136062	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:34134673..34137724-chr17:34141957..34146258,6	MCF-7	breast:
2	chr17:34135239..34137919-chr17:34235430..34238099,2	K562	blood:
3	chr17:34083597..34086759-chr17:34135084..34137679,3	K562	blood:
4	chr17:33913630..33915202-chr17:34134873..34137603,2	K562	blood:
5	chr17:34121885..34124383-chr17:34134953..34137697,3	MCF-7	breast:
6	chr17:33913527..33915363-chr17:34134013..34136643,3	MCF-7	breast:
7	chr15:65587350..65589441-chr17:34135869..34138825,2	MCF-7	breast:
8	chr17:33904670..33906387-chr17:34135611..34138584,2	MCF-7	breast:
9	chr17:33922858..33924678-chr17:34135851..34137902,2	K562	blood:
10	chr17:34089535..34095936-chr17:34135210..34140609,14	MCF-7	breast:
11	chr1:1509265..1510180-chr17:34135685..34136464,2	NB4	blood:
12	chr17:34094111..34095662-chr17:34135417..34136930,2	K562	blood:
13	chr17:34135474..34138012-chr17:34161154..34162893,2	K562	blood:
14	chr17:33892195..33894200-chr17:34134782..34137507,2	K562	blood:
15	chr17:34121741..34124084-chr17:34135458..34137103,2	MCF-7	breast:

Variant related genes	Relation type
TAF15	TF binding region
ENSG00000267578	TF binding region
TAF15	CpG island
ENSG00000267578	CpG island
ENSG00000129270	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000160075	Chromatin interaction
ENSG00000267592	Chromatin interaction
ENSG00000266911	Chromatin interaction
ENSG00000267347	Chromatin interaction
ENSG00000242660	Chromatin interaction
ENSG00000266999	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10451309	0.82[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1065341	1.00[TSI][hapmap]
rs11650668	0.86[AFR][1000 genomes]
rs16963927	0.92[GIH][hapmap];1.00[TSI][hapmap]
rs16971600	0.92[GIH][hapmap];1.00[TSI][hapmap]
rs16971624	0.89[GIH][hapmap];1.00[TSI][hapmap]
rs2107538	0.92[LWK][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap]
rs2242596	0.92[JPT][hapmap]
rs2242597	1.00[JPT][hapmap]
rs2280783	0.92[JPT][hapmap]
rs2280786	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2280788	1.00[JPT][hapmap]
rs2291299	0.92[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs28595279	0.86[AFR][1000 genomes]
rs3760327	0.83[AFR][1000 genomes]
rs3817655	0.92[LWK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs4079183	0.81[AFR][1000 genomes]
rs4251700	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4251703	0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs4251704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251724	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs4251739	0.83[ASN][1000 genomes]
rs4251744	0.82[EUR][1000 genomes]
rs4251749	0.84[AFR][1000 genomes]
rs4251776	0.92[GIH][hapmap];1.00[TSI][hapmap]
rs4325615	0.86[AFR][1000 genomes]
rs4795090	0.90[LWK][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs4796128	0.84[LWK][hapmap]
rs55792948	0.86[ASN][1000 genomes]
rs56170514	0.86[ASN][1000 genomes]
rs56262662	0.86[ASN][1000 genomes]
rs56347933	0.87[ASN][1000 genomes]
rs56382694	0.91[ASN][1000 genomes]
rs60040900	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505496	0.90[LWK][hapmap]
rs6505498	0.84[AFR][1000 genomes]
rs7209512	0.82[EUR][1000 genomes]
rs8069014	0.81[AFR][1000 genomes]
rs8073456	0.89[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs8080959	0.89[AFR][1000 genomes]
rs9896368	0.85[CHD][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs9901469	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907320	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9914929	0.85[MEX][hapmap];0.87[TSI][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4251710	CCL3	cis	lymphoblastoid	seeQTL
rs4251710	CCL5	cis	lymphoblastoid	seeQTL
rs4251710	RDM1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34135000-34138000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:34135400-34136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:34135400-34138000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:34135600-34136200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr17:34135600-34136400	Weak transcription	Gastric	stomach
6	chr17:34135600-34137000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:34135600-34137000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:34135600-34137200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:34135600-34137400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:34135600-34137600	Active TSS	Fetal Brain Male	brain
11	chr17:34135600-34137800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:34135600-34137800	Active TSS	Fetal Brain Female	brain
13	chr17:34135600-34137800	Active TSS	Fetal Kidney	kidney
14	chr17:34135600-34137800	Active TSS	Left Ventricle	heart
15	chr17:34135600-34138000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr17:34135600-34138000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:34135600-34138000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:34135600-34138200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr17:34135600-34138200	Active TSS	Psoas Muscle	Psoas
20	chr17:34135600-34138800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr17:34135800-34136400	Weak transcription	Spleen	Spleen
22	chr17:34135800-34136600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:34135800-34136800	Active TSS	HepG2	liver
24	chr17:34135800-34137000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr17:34135800-34137000	Active TSS	Duodenum Mucosa	Duodenum
26	chr17:34135800-34137000	Active TSS	Pancreas	Pancrea
27	chr17:34135800-34137000	Active TSS	Dnd41	blood
28	chr17:34135800-34137200	Active TSS	Primary T cells from cord blood	blood
29	chr17:34135800-34137200	Active TSS	Brain Angular Gyrus	brain
30	chr17:34135800-34137200	Active TSS	Brain Anterior Caudate	brain
31	chr17:34135800-34137200	Active TSS	Fetal Heart	heart
32	chr17:34135800-34137200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr17:34135800-34137200	Active TSS	Stomach Mucosa	stomach
34	chr17:34135800-34137200	Active TSS	K562	blood
35	chr17:34135800-34137400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:34135800-34137400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:34135800-34137400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:34135800-34137400	Active TSS	Brain Hippocampus Middle	brain
39	chr17:34135800-34137400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr17:34135800-34137400	Active TSS	Fetal Stomach	stomach
41	chr17:34135800-34137400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr17:34135800-34137600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr17:34135800-34137600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:34135800-34137600	Active TSS	Aorta	Aorta
45	chr17:34135800-34137600	Active TSS	Colonic Mucosa	Colon
46	chr17:34135800-34137600	Active TSS	NHEK	skin
47	chr17:34135800-34137800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:34135800-34137800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:34135800-34137800	Active TSS	Esophagus	oesophagus
50	chr17:34135800-34137800	Active TSS	Fetal Muscle Trunk	muscle

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