Variant report

Variant	rs12793955
Chromosome Location	chr11:9335750-9335751
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	YY1	chr11:9335574-9336753	GM12878	blood:	n/a	n/a
2	PAX5	chr11:9335572-9336549	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:9335211-9336857	PBDE	blood:	n/a	n/a
4	POLR2A	chr11:9335481-9337154	K562	blood:	n/a	n/a
5	E2F4	chr11:9335469-9335758	MCF10A-Er-Src	breast:	n/a	chr11:9335748-9335758
6	ELF1	chr11:9335701-9336738	GM12878	blood:	n/a	chr11:9336398-9336409 chr11:9336399-9336408 chr11:9335740-9335752 chr11:9336398-9336409
7	CTCF	chr11:9335740-9335890	GM12866	blood:	n/a	n/a
8	RAD21	chr11:9335399-9336743	IMR90	lung:	n/a	n/a
9	EGR1	chr11:9335596-9336789	HCT-116	colon:	n/a	chr11:9336323-9336332 chr11:9336400-9336409 chr11:9336088-9336097 chr11:9336192-9336205
10	TCF12	chr11:9335351-9337089	A549	lung:	n/a	chr11:9335754-9335764
11	MAX	chr11:9335650-9336867	A549	lung:	n/a	n/a
12	POLR2A	chr11:9335665-9337119	SK-N-MC	brain:	n/a	n/a
13	HA-E2F1	chr11:9335613-9336662	Hela-S3	cervix:	n/a	chr11:9335748-9335758 chr11:9336014-9336029 chr11:9336021-9336030 chr11:9336470-9336479 chr11:9335757-9335767
14	HA-E2F1	chr11:9335546-9336827	MCF-7	breast:	n/a	chr11:9335748-9335758 chr11:9336014-9336029 chr11:9336021-9336030 chr11:9336470-9336479 chr11:9335757-9335767
15	POLR2A	chr11:9335683-9337201	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:9335599-9336888	GM19099	blood:	n/a	n/a
17	HMGN3	chr11:9335618-9336517	K562	blood:	n/a	n/a
18	TAF1	chr11:9335499-9336875	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:9335559-9337169	K562	blood:	n/a	n/a
20	POLR2A	chr11:9335528-9337251	K562	blood:	n/a	n/a
21	SIN3AK20	chr11:9335571-9336706	SK-N-SH	brain:	n/a	n/a
22	SIN3AK20	chr11:9335711-9336871	MCF-7	breast:	n/a	n/a
23	SIN3A	chr11:9335345-9336806	H1-hESC	embryonic stem cell:	n/a	chr11:9336307-9336316 chr11:9335557-9335565
24	POLR2A	chr11:9335533-9337254	Hela-S3	cervix:	n/a	n/a
25	WRNIP1	chr11:9335424-9336184	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:9335739-9337144	K562	blood:	n/a	n/a
27	MAZ	chr11:9335695-9336730	HepG2	liver:	n/a	n/a
28	MAX	chr11:9335711-9337071	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr11:9335576-9336623	K562	blood:	n/a	n/a
30	POLR2A	chr11:9335653-9336996	PFSK-1	brain:	n/a	n/a
31	ZBTB7A	chr11:9335523-9336365	ECC-1	luminal epithelium:	n/a	chr11:9336022-9336031
32	MYC	chr11:9335615-9336640	NB4	blood:	n/a	n/a
33	ATF2	chr11:9335726-9336799	GM12878	blood:	n/a	n/a
34	MAZ	chr11:9335599-9337110	K562	blood:	n/a	n/a
35	CHD2	chr11:9335516-9336742	K562	blood:	n/a	chr11:9335737-9335747
36	ELF1	chr11:9335548-9336601	GM12878	blood:	n/a	chr11:9336398-9336409 chr11:9336399-9336408 chr11:9335740-9335752 chr11:9336398-9336409
37	NRF1	chr11:9335421-9336751	SK-N-SH	brain:	n/a	chr11:9336322-9336333 chr11:9336322-9336333 chr11:9336021-9336030 chr11:9336322-9336336 chr11:9336215-9336229
38	ELK1	chr11:9335493-9336768	GM12878	blood:	n/a	chr11:9336088-9336097 chr11:9336088-9336097
39	YY1	chr11:9335745-9336862	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr11:9335608-9336890	H1-hESC	embryonic stem cell:	n/a	n/a
41	UBTF	chr11:9335670-9335757	K562	blood:	n/a	n/a
42	MTA3	chr11:9335481-9337211	GM12878	blood:	n/a	n/a
43	ZMIZ1	chr11:9335512-9336728	K562	blood:	n/a	n/a
44	POLR2A	chr11:9335688-9336946	GM12892	blood:	n/a	n/a
45	E2F6	chr11:9335614-9335793	K562	blood:	n/a	chr11:9335748-9335758 chr11:9335757-9335767
46	MAX	chr11:9335553-9336775	NB4	blood:	n/a	n/a
47	MAZ	chr11:9335169-9337773	IMR90	lung:	n/a	n/a
48	CHD1	chr11:9335620-9336781	GM12878	blood:	n/a	chr11:9335737-9335747
49	ZKSCAN1	chr11:9335330-9336637	Hela-S3	cervix:	n/a	n/a
50	JUN	chr11:9335300-9337687	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9335706-9335756	NHBE	bronchial:	n/a
2	chr11:9335706-9335756	NT2-D1	testis:	n/a
3	chr11:9335706-9335756	U87	brain:	n/a
4	chr11:9335706-9335756	HEK293	kidney:	embryo
5	chr11:9335706-9335756	HCM	heart:	n/a
6	chr11:9335706-9335756	BJ	skin:	n/a
7	chr11:9335706-9335756	RPTEC	kidney:	n/a
8	chr11:9335706-9335756	Hepatocyte	liver:	n/a
9	chr11:9335706-9335756	Caco-2	colon:	n/a
10	chr11:9335706-9335756	NB4	blood:	n/a
11	chr11:9335706-9335756	SK-N-MC	brain:	n/a
12	chr11:9335706-9335756	T-47D	breast:	n/a
13	chr11:9335706-9335756	AG10803	skin:	n/a
14	chr11:9335706-9335756	GM12892	blood:	n/a
15	chr11:9335706-9335756	H1-hESC	embryonic stem cell:	embryo
16	chr11:9335706-9335756	MCF10A-Er-Src	breast:	n/a
17	chr11:9335706-9335756	SAEC	small airway:	n/a
18	chr11:9335706-9335756	HCT-116	colon:	n/a
19	chr11:9335706-9335756	AG04450	lung:	fetal
20	chr11:9335706-9335756	HEEpiC	esophagus:	n/a
21	chr11:9335706-9335756	HCPEpiC	choroid plexus:	n/a
22	chr11:9335706-9335756	GM19239	blood:	n/a
23	chr11:9335706-9335756	AG09319	gingival:	n/a
24	chr11:9335706-9335756	HUVEC	blood vessel:	n/a
25	chr11:9335706-9335756	HRPEpiC	eye:	n/a
26	chr11:9335706-9335756	HMEC	breast:	n/a
27	chr11:9335706-9335756	AG04449	skin:	fetal
28	chr11:9335706-9335756	HNPCEpiC	eye:	n/a
29	chr11:9335706-9335756	NHDF-neo	bronchial:	n/a
30	chr11:9335706-9335756	ECC-1	luminal epithelium:	n/a
31	chr11:9335706-9335756	SK-N-SH	brain:	n/a
32	chr11:9335706-9335756	ovcar-3	ovarian:	n/a
33	chr11:9335706-9335756	GM12878	blood:	n/a
34	chr11:9335706-9335756	Hela-S3	cervix:	n/a
35	chr11:9335706-9335756	HCF	heart:	n/a
36	chr11:9335706-9335756	HRE	kidney:	n/a
37	chr11:9335706-9335756	SKMC	muscle:	n/a
38	chr11:9335706-9335756	HepG2	liver:	n/a
39	chr11:9335706-9335756	LNCaP	prostate:	n/a
40	chr11:9335706-9335756	HL-60	blood:	n/a
41	chr11:9335706-9335756	HRCEpiC	kidney:	n/a
42	chr11:9335706-9335756	GM12891	blood:	n/a
43	chr11:9335706-9335756	CMK	blood:	n/a
44	chr11:9335706-9335756	HIPEpiC	eye:	n/a
45	chr11:9335706-9335756	BE2_C	brain:	n/a
46	chr11:9335706-9335756	AG09309	skin:	n/a
47	chr11:9335706-9335756	K562	blood:	n/a
48	chr11:9335706-9335756	PrEC	prostate:	n/a
49	chr11:9335706-9335756	NH-A	brain:	n/a
50	chr11:9335706-9335756	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9335238..9336588-chr11:9482149..9483111,3	Hela-S3	cervix:
2	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
3	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
4	chr11:9335623..9336496-chr11:9405441..9406335,2	NB4	blood:
5	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
6	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
7	chr11:9334944..9338278-chr11:9404354..9407861,9	MCF-7	breast:
8	chr11:9334942..9338160-chr11:9405201..9408296,5	MCF-7	breast:
9	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:

Variant related genes	Relation type
ENSG00000254884	TF binding region
ENSG00000254884	CpG island
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10770012	0.80[ASN][1000 genomes]
rs10770015	0.92[ASN][1000 genomes]
rs12575328	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12806744	0.90[ASN][1000 genomes]
rs34702749	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35378309	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4282978	0.93[ASN][1000 genomes]
rs4300394	0.96[ASN][1000 genomes]
rs4396289	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4420270	0.97[ASN][1000 genomes]
rs56349194	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109456	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7114748	0.88[ASN][1000 genomes]
rs7131017	0.83[AMR][1000 genomes]
rs72850517	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
7	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr11:9332800-9336800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:9333000-9336800	Active TSS	Psoas Muscle	Psoas
3	chr11:9334000-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:9334000-9336600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:9334000-9336800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:9334200-9336400	Active TSS	Hela-S3	cervix
7	chr11:9334200-9336400	Active TSS	HSMM	muscle
8	chr11:9334200-9336600	Active TSS	HMEC	breast
9	chr11:9334200-9336600	Active TSS	K562	blood
10	chr11:9334600-9335800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:9334600-9336400	Active TSS	Thymus	Thymus
12	chr11:9334600-9336600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:9334600-9336600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:9334600-9336600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:9334600-9336600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:9334600-9336600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:9334600-9336600	Active TSS	A549	lung
18	chr11:9334600-9336600	Active TSS	HSMMtube	muscle
19	chr11:9334600-9336600	Active TSS	NHDF-Ad	bronchial
20	chr11:9334600-9336600	Active TSS	NHLF	lung
21	chr11:9334600-9337000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr11:9334600-9337000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:9334600-9337000	Active TSS	Right Atrium	heart
24	chr11:9334600-9337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:9334800-9335800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:9334800-9336000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:9334800-9336400	Active TSS	Placenta	Placenta
28	chr11:9334800-9336400	Active TSS	Fetal Thymus	thymus
29	chr11:9334800-9336600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:9334800-9336600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:9334800-9336600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:9334800-9336600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:9334800-9336600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:9334800-9336600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:9334800-9336600	Active TSS	Fetal Muscle Leg	muscle
36	chr11:9334800-9336600	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:9334800-9336600	Active TSS	NHEK	skin
38	chr11:9334800-9336800	Active TSS	Aorta	Aorta
39	chr11:9334800-9336800	Active TSS	Fetal Intestine Large	intestine
40	chr11:9334800-9337200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr11:9334800-9337200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:9335000-9335800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr11:9335000-9335800	Flanking Active TSS	Fetal Brain Female	brain
44	chr11:9335000-9336400	Active TSS	Primary T cells fromperipheralblood	blood
45	chr11:9335000-9336400	Active TSS	Fetal Kidney	kidney
46	chr11:9335000-9336400	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:9335000-9336600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:9335000-9336600	Active TSS	Brain Anterior Caudate	brain
49	chr11:9335000-9336600	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:9335000-9336600	Active TSS	Brain Inferior Temporal Lobe	brain

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