Variant report

Variant	rs4251707
Chromosome Location	chr17:34135795-34135796
allele	G/T
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	SIN3AK20	chr17:34135561-34137097	A549	lung:	n/a	n/a
3	STAT1	chr17:34135407-34136726	Hela-S3	cervix:	n/a	n/a
4	SIN3A	chr17:34135792-34136781	GM12878	blood:	n/a	chr17:34136491-34136499
5	TBP	chr17:34135722-34137016	H1-hESC	embryonic stem cell:	n/a	n/a
6	STAT5A	chr17:34135655-34137078	GM12878	blood:	n/a	chr17:34136845-34136857 chr17:34136895-34136907
7	TAF1	chr17:34135795-34137000	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:34135622-34141134	MCF10A-Er-Src	breast:	n/a	n/a
9	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
10	POLR2A	chr17:34135568-34137805	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr17:34135457-34136662	Hela-S3	cervix:	n/a	n/a
12	EP300	chr17:34135745-34136877	SK-N-SH	brain:	n/a	chr17:34136422-34136438
13	CEBPB	chr17:34135656-34136657	H1-hESC	embryonic stem cell:	n/a	chr17:34136437-34136445 chr17:34136139-34136151
14	FOSL2	chr17:34135668-34136827	A549	lung:	n/a	chr17:34136435-34136444 chr17:34136701-34136710 chr17:34136702-34136711
15	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
16	TAF1	chr17:34135740-34137225	H1-neurons	neurons:	n/a	n/a
17	ATF3	chr17:34135693-34136858	A549	lung:	n/a	chr17:34136502-34136511 chr17:34136473-34136482
18	POU2F2	chr17:34135782-34137197	GM12878	blood:	n/a	chr17:34136134-34136143 chr17:34136132-34136145 chr17:34136698-34136710
19	ZNF143	chr17:34135683-34136698	K562	blood:	n/a	n/a
20	ELF1	chr17:34135611-34136678	A549	lung:	n/a	chr17:34136495-34136507
21	POLR2A	chr17:34135421-34137323	HL-60	blood:	n/a	n/a
22	RUNX3	chr17:34135755-34136810	GM12878	blood:	n/a	chr17:34136187-34136196 chr17:34136187-34136196
23	SMC3	chr17:34135513-34136701	Hela-S3	cervix:	n/a	chr17:34136055-34136069 chr17:34136506-34136516
24	POLR2A	chr17:34135618-34137088	GM12892	blood:	n/a	n/a
25	POLR2A	chr17:34135750-34137271	K562	blood:	n/a	n/a
26	USF2	chr17:34135343-34136421	Hela-S3	cervix:	n/a	n/a
27	JUND	chr17:34135644-34137390	H1-hESC	embryonic stem cell:	n/a	chr17:34136435-34136444 chr17:34137046-34137058 chr17:34137047-34137058 chr17:34136701-34136710 chr17:34137048-34137056 chr17:34136702-34136711
28	CHD2	chr17:34135582-34136707	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr17:34135708-34137008	Hela-S3	cervix:	n/a	n/a
30	ETS1	chr17:34135711-34136692	A549	lung:	n/a	chr17:34136254-34136265 chr17:34136258-34136265
31	POLR2A	chr17:34135629-34138074	GM12892	blood:	n/a	n/a
32	MYC	chr17:34135781-34136925	K562	blood:	n/a	n/a
33	CEBPD	chr17:34135781-34136807	K562	blood:	n/a	n/a
34	TAF1	chr17:34135728-34137252	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr17:34135582-34136865	HCT-116	colon:	n/a	chr17:34136435-34136444 chr17:34136701-34136710 chr17:34136702-34136711
36	E2F4	chr17:34135731-34136697	GM12878	blood:	n/a	chr17:34136475-34136484 chr17:34136506-34136516 chr17:34136504-34136513 chr17:34136437-34136446 chr17:34136641-34136653
37	POLR2A	chr17:34135741-34137930	GM12878	blood:	n/a	n/a
38	HCFC1	chr17:34135756-34136797	K562	blood:	n/a	n/a
39	MAX	chr17:34135495-34137254	Hela-S3	cervix:	n/a	n/a
40	EP300	chr17:34135743-34136693	GM12878	blood:	n/a	chr17:34136422-34136438
41	SIN3A	chr17:34135436-34137570	H1-hESC	embryonic stem cell:	n/a	chr17:34136491-34136499 chr17:34137034-34137047
42	MTA3	chr17:34135692-34136652	GM12878	blood:	n/a	n/a
43	CEBPB	chr17:34135487-34136910	GM12878	blood:	n/a	chr17:34136437-34136445 chr17:34136139-34136151
44	POLR2A	chr17:34135711-34138347	PANC-1	pancreas:	n/a	n/a
45	MAX	chr17:34135773-34136835	SK-N-SH	brain:	n/a	n/a
46	REST	chr17:34135788-34136784	A549	lung:	n/a	n/a
47	BCL3	chr17:34135592-34137303	A549	lung:	n/a	chr17:34136501-34136510 chr17:34136504-34136517 chr17:34136868-34136877 chr17:34136472-34136481 chr17:34136895-34136904 chr17:34136897-34136910 chr17:34136492-34136505 chr17:34136495-34136508 chr17:34135884-34135893 chr17:34136254-34136263 chr17:34136499-34136512 chr17:34136470-34136483 chr17:34136551-34136560 chr17:34136706-34136719 chr17:34136711-34136724
48	SIX5	chr17:34135491-34136906	A549	lung:	n/a	n/a
49	BCL3	chr17:34135479-34137169	A549	lung:	n/a	chr17:34136501-34136510 chr17:34136504-34136517 chr17:34136868-34136877 chr17:34136472-34136481 chr17:34136895-34136904 chr17:34136897-34136910 chr17:34136492-34136505 chr17:34136495-34136508 chr17:34135884-34135893 chr17:34136254-34136263 chr17:34136499-34136512 chr17:34136470-34136483 chr17:34136551-34136560 chr17:34136706-34136719 chr17:34136711-34136724
50	MAZ	chr17:34135692-34137372	GM12878	blood:	n/a	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	chr17:33904670..33906387-chr17:34135611..34138584,2	MCF-7	breast:
8	chr17:34089535..34095936-chr17:34135210..34140609,14	MCF-7	breast:
9	chr1:1509265..1510180-chr17:34135685..34136464,2	NB4	blood:
10	chr17:34094111..34095662-chr17:34135417..34136930,2	K562	blood:
11	chr17:34135474..34138012-chr17:34161154..34162893,2	K562	blood:
12	chr17:33892195..33894200-chr17:34134782..34137507,2	K562	blood:
13	chr17:34121741..34124084-chr17:34135458..34137103,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMP28-1	chr17:34135493-34135901	ENSG00000267578.1

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

rs_ID	r²[population]
rs6505497	1.00[CEU][hapmap]

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34127600-34135800	Weak transcription	Aorta	Aorta
2	chr17:34129000-34135800	Weak transcription	Right Atrium	heart
3	chr17:34129200-34135800	Weak transcription	Esophagus	oesophagus
4	chr17:34134800-34135800	Flanking Active TSS	Dnd41	blood
5	chr17:34135000-34135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:34135000-34135800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:34135000-34135800	Flanking Active TSS	NHEK	skin
8	chr17:34135000-34136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:34135000-34138000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr17:34135200-34135800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:34135200-34135800	Flanking Active TSS	Hela-S3	cervix
12	chr17:34135200-34135800	Flanking Active TSS	HepG2	liver
13	chr17:34135200-34136000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr17:34135400-34135800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:34135400-34135800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr17:34135400-34135800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr17:34135400-34135800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:34135400-34135800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:34135400-34135800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr17:34135400-34135800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr17:34135400-34135800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr17:34135400-34135800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr17:34135400-34135800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:34135400-34135800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:34135400-34135800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:34135400-34135800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:34135400-34135800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr17:34135400-34135800	Enhancers	Fetal Lung	lung
29	chr17:34135400-34135800	Enhancers	Fetal Stomach	stomach
30	chr17:34135400-34135800	Enhancers	Lung	lung
31	chr17:34135400-34135800	Enhancers	Pancreas	Pancrea
32	chr17:34135400-34135800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr17:34135400-34135800	Enhancers	Right Ventricle	heart
34	chr17:34135400-34135800	Enhancers	Spleen	Spleen
35	chr17:34135400-34135800	Flanking Active TSS	A549	lung
36	chr17:34135400-34135800	Flanking Active TSS	GM12878-XiMat	blood
37	chr17:34135400-34135800	Flanking Active TSS	K562	blood
38	chr17:34135400-34136000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:34135400-34136000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:34135400-34136000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr17:34135400-34136000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr17:34135400-34136000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:34135400-34136000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:34135400-34136000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr17:34135400-34136000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr17:34135400-34136000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr17:34135400-34136000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr17:34135400-34136000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr17:34135400-34136000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:34135400-34136000	Flanking Active TSS	Brain Substantia Nigra	brain

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