Variant report

Variant	rs5002
Chromosome Location	chr11:10326521-10326522
allele	A/G
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	CEBPB	chr11:10323999-10327509	Hela-S3	cervix:	n/a	chr11:10325931-10325943
2	NR3C1	chr11:10326128-10326896	A549	lung:	n/a	chr11:10326645-10326654
3	POLR2A	chr11:10325891-10330101	HCT-116	colon:	n/a	n/a
4	CTBP2	chr11:10326013-10328567	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr11:10326465-10326823	SK-N-SH_RA	brain:	n/a	n/a
6	ETS1	chr11:10326475-10326841	A549	lung:	n/a	chr11:10326566-10326579
7	USF1	chr11:10326206-10327073	A549	lung:	n/a	n/a
8	ZBTB33	chr11:10326399-10326874	HCT-116	colon:	n/a	n/a
9	HA-E2F1	chr11:10326002-10327401	Hela-S3	cervix:	n/a	chr11:10326572-10326581 chr11:10326176-10326185 chr11:10326448-10326457 chr11:10326557-10326567 chr11:10327071-10327082
10	ARID3A	chr11:10326146-10326748	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:10326176-10326858	HL-60	blood:	n/a	n/a
12	E2F6	chr11:10326122-10326853	A549	lung:	n/a	chr11:10326572-10326581 chr11:10326176-10326185 chr11:10326448-10326457 chr11:10326557-10326567
13	YY1	chr11:10326080-10326877	H1-hESC	embryonic stem cell:	n/a	chr11:10326453-10326464 chr11:10326446-10326457
14	E2F4	chr11:10326433-10326682	MCF10A-Er-Src	breast:	n/a	chr11:10326572-10326581 chr11:10326448-10326457 chr11:10326557-10326567
15	CTCF	chr11:10326400-10326550	NHEK	skin:	n/a	n/a
16	JUND	chr11:10323956-10331669	HCT-116	colon:	n/a	chr11:10326447-10326456 chr11:10331225-10331234 chr11:10326563-10326572 chr11:10331227-10331234 chr11:10324905-10324915 chr11:10329473-10329484 chr11:10331226-10331235 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10331226-10331234 chr11:10329706-10329716 chr11:10330671-10330679 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716 chr11:10331224-10331235
17	MAX	chr11:10326125-10326807	MCF-7	breast:	n/a	chr11:10326516-10326525
18	NFIC	chr11:10323716-10326756	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr11:10326261-10327890	HUVEC	blood vessel:	n/a	n/a
20	ELF1	chr11:10326230-10328385	GM12878	blood:	n/a	n/a
21	REST	chr11:10326189-10326913	HL-60	blood:	n/a	n/a
22	TAF7	chr11:10324386-10331444	H1-hESC	embryonic stem cell:	n/a	n/a
23	BHLHE40	chr11:10326509-10327213	K562	blood:	n/a	n/a
24	HEY1	chr11:10325910-10331758	HepG2	liver:	n/a	chr11:10327166-10327181 chr11:10329744-10329759 chr11:10326566-10326581 chr11:10329041-10329056
25	TAF1	chr11:10325850-10328453	A549	lung:	n/a	n/a
26	POLR2A	chr11:10326068-10326907	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr11:10325494-10327039	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:10323213-10327582	A549	lung:	n/a	n/a
29	CHD2	chr11:10324029-10327973	Hela-S3	cervix:	n/a	chr11:10327760-10327770 chr11:10327860-10327870 chr11:10326455-10326465 chr11:10326448-10326458
30	REST	chr11:10323825-10327134	A549	lung:	n/a	chr11:10324706-10324726 chr11:10324706-10324726 chr11:10324841-10324861 chr11:10324470-10324483 chr11:10324706-10324726 chr11:10324845-10324858 chr11:10324707-10324725
31	POLR2A	chr11:10324106-10328040	HepG2	liver:	n/a	n/a
32	STAT3	chr11:10326486-10326686	MCF10A-Er-Src	breast:	n/a	chr11:10326573-10326585
33	POLR2A	chr11:10326004-10328426	A549	lung:	n/a	n/a
34	TAF1	chr11:10326476-10326745	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:10326042-10327299	A549	lung:	n/a	n/a
36	TCF12	chr11:10326448-10326809	GM12878	blood:	n/a	n/a
37	RXRA	chr11:10325956-10326645	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr11:10325964-10326531	H1-hESC	embryonic stem cell:	n/a	chr11:10326172-10326182
39	CEBPB	chr11:10325087-10326873	A549	lung:	n/a	chr11:10325931-10325943
40	RAD21	chr11:10325502-10330565	SK-N-SH	brain:	n/a	chr11:10326951-10326963 chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512 chr11:10326172-10326182
41	POLR2A	chr11:10326154-10327533	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr11:10326036-10328003	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIN3AK20	chr11:10325982-10326844	SK-N-SH	brain:	n/a	n/a
44	MAX	chr11:10326065-10326734	H1-hESC	embryonic stem cell:	n/a	chr11:10326516-10326525
45	MAX	chr11:10325984-10326771	ECC-1	luminal epithelium:	n/a	chr11:10326516-10326525
46	JUND	chr11:10325945-10327330	A549	lung:	n/a	chr11:10326447-10326456 chr11:10326563-10326572
47	POLR2A	chr11:10325955-10328644	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:10323526-10327709	SK-N-SH	brain:	n/a	n/a
49	RAD21	chr11:10325194-10327128	Hela-S3	cervix:	n/a	chr11:10326951-10326963 chr11:10326172-10326182
50	NR3C1	chr11:10326027-10326827	A549	lung:	n/a	chr11:10326645-10326654

No.	Distal block	Cell Line	Cell type
1	chr11:10314668..10317041-chr11:10325018..10327085,3	K562	blood:
2	chr11:10326508..10327115-chr19:17666397..17667243,2	Hela-S3	cervix:
3	chr11:10326048..10326689-chr17:70588441..70589030,2	HCT-116	colon:
4	chr11:10326179..10326707-chrX:153707282..153708067,2	NB4	blood:
5	chr11:10326324..10327047-chr16:31191428..31191950,2	Hela-S3	cervix:
6	chr11:10326410..10327206-chr18:61636963..61637849,2	Hela-S3	cervix:
7	chr11:10326187..10326797-chr5:43313200..43313910,3	Hela-S3	cervix:
8	chr11:10326505..10327152-chr12:53447813..53448687,2	Hela-S3	cervix:
9	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
10	chr11:10293712..10297432-chr11:10324720..10326890,3	MCF-7	breast:
11	chr11:9594508..9596451-chr11:10325420..10327263,2	MCF-7	breast:
12	chr11:8932589..8934691-chr11:10326254..10327939,2	MCF-7	breast:
13	chr1:147735690..147736417-chr11:10326162..10327114,3	HCT-116	colon:
14	chr11:10326117..10327093-chr2:202097624..202098368,2	HCT-116	colon:
15	chr11:10326193..10326763-chr7:5569935..5570839,2	Hela-S3	cervix:
16	chr1:193074228..193075188-chr11:10326227..10327050,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000254554	TF binding region
AMPD3	TF binding region
ADM	TF binding region
ENSG00000254719	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000199879	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000227036	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000166401	Chromatin interaction
ENSG00000130309	Chromatin interaction
ENSG00000257337	Chromatin interaction
ENSG00000064012	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72851630	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10323200-10329800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:10323200-10330200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:10323600-10330000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:10323800-10326600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:10323800-10326800	Active TSS	Brain Angular Gyrus	brain
6	chr11:10323800-10326800	Active TSS	NHLF	lung
7	chr11:10323800-10327200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:10323800-10327400	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:10323800-10329000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:10323800-10329600	Active TSS	Placenta Amnion	Placenta Amnion
11	chr11:10323800-10330000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:10323800-10330000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
13	chr11:10323800-10330200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:10324000-10326600	Active TSS	Fetal Intestine Small	intestine
15	chr11:10324000-10327200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:10324000-10327200	Active TSS	A549	lung
17	chr11:10324000-10328200	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr11:10324000-10328600	Flanking Bivalent TSS/Enh	Dnd41	blood
19	chr11:10324000-10329200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:10324000-10329800	Active TSS	Aorta	Aorta
21	chr11:10324000-10330000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr11:10324000-10330000	Active TSS	Psoas Muscle	Psoas
23	chr11:10324000-10330200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:10324200-10326800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:10324200-10327400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:10324200-10327400	Active TSS	Fetal Kidney	kidney
27	chr11:10324200-10328000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:10324200-10328000	Active TSS	Small Intestine	intestine
29	chr11:10324200-10329800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:10324200-10329800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:10324200-10329800	Active TSS	Gastric	stomach
32	chr11:10324400-10327600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr11:10324400-10329800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:10324600-10327000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:10324600-10329800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:10324800-10326600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr11:10324800-10328600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr11:10324800-10328600	Flanking Bivalent TSS/Enh	Thymus	Thymus
39	chr11:10324800-10330000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr11:10325000-10326600	Bivalent Enhancer	Fetal Brain Male	brain
41	chr11:10325000-10326800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr11:10325000-10326800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:10325000-10326800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr11:10325200-10329000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:10325400-10326600	Active TSS	Fetal Intestine Large	intestine
46	chr11:10325400-10326800	Enhancers	Spleen	Spleen
47	chr11:10325400-10327200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:10325400-10327400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:10325400-10329800	Active TSS	HSMMtube	muscle
50	chr11:10325600-10326600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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