Variant report

Variant	rs11791355
Chromosome Location	chr9:101568992-101568993
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:101568510-101570694	A549	lung:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
2	RAD21	chr9:101568647-101569113	A549	lung:	n/a	chr9:101568821-101568840
3	CTCF	chr9:101568920-101569070	HCM	heart:	n/a	n/a
4	CTCF	chr9:101568530-101569186	HCT-116	colon:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
5	CTCF	chr9:101568622-101569070	MCF-7	breast:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
6	RAD21	chr9:101568541-101569168	HCT-116	colon:	n/a	chr9:101568821-101568840
7	RAD21	chr9:101568663-101568993	Hela-S3	cervix:	n/a	chr9:101568821-101568840
8	EP300	chr9:101568762-101569014	K562	blood:	n/a	n/a
9	CTCF	chr9:101568614-101569057	A549	lung:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
10	RAD21	chr9:101568496-101569167	SK-N-SH	brain:	n/a	chr9:101568821-101568840
11	CTCF	chr9:101568695-101569079	MCF-7	breast:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
12	CUX1	chr9:101568878-101569036	K562	blood:	n/a	n/a
13	CTCF	chr9:101568664-101568992	K562	blood:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
14	CTCF	chr9:101568920-101569070	HAc	cerebellar:	n/a	n/a
15	RAD21	chr9:101568701-101569012	MCF-7	breast:	n/a	chr9:101568821-101568840
16	CTCF	chr9:101568526-101569078	SK-N-SH	brain:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
17	ARID3A	chr9:101568674-101569032	K562	blood:	n/a	n/a
18	RAD21	chr9:101568596-101569116	HCT-116	colon:	n/a	chr9:101568821-101568840

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:101568975-101569025	GM12892	blood:	n/a
2	chr9:101568975-101569025	HUVEC	blood vessel:	n/a
3	chr9:101568975-101569025	SK-N-SH_RA	brain:	n/a
4	chr9:101568975-101569025	HNPCEpiC	eye:	n/a
5	chr9:101568975-101569025	HAEpiC	amniotic membrane:	n/a
6	chr9:101568975-101569025	GM19239	blood:	n/a
7	chr9:101568975-101569025	Caco-2	colon:	n/a
8	chr9:101568975-101569025	HEK293	kidney:	embryo
9	chr9:101568975-101569025	HEEpiC	esophagus:	n/a
10	chr9:101568975-101569025	MCF10A-Er-Src	breast:	n/a
11	chr9:101568975-101569025	HCPEpiC	choroid plexus:	n/a
12	chr9:101568975-101569025	NT2-D1	testis:	n/a
13	chr9:101568975-101569025	Hepatocyte	liver:	n/a
14	chr9:101568975-101569025	HRE	kidney:	n/a
15	chr9:101568975-101569025	ProgFib	skin:	n/a
16	chr9:101568975-101569025	AoSMC	blood vessel:	n/a
17	chr9:101568975-101569025	SKMC	muscle:	n/a
18	chr9:101568975-101569025	NH-A	brain:	n/a
19	chr9:101568975-101569025	HCF	heart:	n/a
20	chr9:101568975-101569025	RPTEC	kidney:	n/a
21	chr9:101568975-101569025	HL-60	blood:	n/a
22	chr9:101568975-101569025	SK-N-MC	brain:	n/a
23	chr9:101568975-101569025	IMR90	lung:	fetal
24	chr9:101568975-101569025	HepG2	liver:	n/a
25	chr9:101568975-101569025	Jurkat	blood:	n/a
26	chr9:101568975-101569025	BE2_C	brain:	n/a
27	chr9:101568975-101569025	HCT-116	colon:	n/a
28	chr9:101568975-101569025	T-47D	breast:	n/a
29	chr9:101568975-101569025	PANC-1	pancreas:	n/a
30	chr9:101568975-101569025	SAEC	small airway:	n/a
31	chr9:101568975-101569025	AG04449	skin:	fetal
32	chr9:101568975-101569025	H1-hESC	embryonic stem cell:	embryo
33	chr9:101568975-101569025	BJ	skin:	n/a
34	chr9:101568975-101569025	HRPEpiC	eye:	n/a
35	chr9:101568975-101569025	HCM	heart:	n/a
36	chr9:101568975-101569025	Hela-S3	cervix:	n/a
37	chr9:101568975-101569025	NHBE	bronchial:	n/a
38	chr9:101568975-101569025	LNCaP	prostate:	n/a
39	chr9:101568975-101569025	AG09309	skin:	n/a
40	chr9:101568975-101569025	HPAEpiC	pulmonary alveolar:	n/a
41	chr9:101568975-101569025	HRCEpiC	kidney:	n/a
42	chr9:101568975-101569025	GM12891	blood:	n/a
43	chr9:101568975-101569025	NB4	blood:	n/a
44	chr9:101568975-101569025	K562	blood:	n/a
45	chr9:101568975-101569025	ovcar-3	ovarian:	n/a
46	chr9:101568975-101569025	NHDF-neo	bronchial:	n/a
47	chr9:101568975-101569025	PrEC	prostate:	n/a
48	chr9:101568975-101569025	A549	lung:	n/a
49	chr9:101568975-101569025	SK-N-SH	brain:	n/a
50	chr9:101568975-101569025	MCF-7	breast:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101567600..101569220-chr9:101571487..101573916,3	MCF-7	breast:
2	chr9:101568546..101571235-chr9:101609367..101611059,3	MCF-7	breast:
3	chr9:101568879..101571340-chr9:101705382..101708339,2	K562	blood:
4	chr9:101568383..101569041-chr9:101610796..101611367,2	MCF-7	breast:
5	chr9:101567740..101569488-chr9:101580448..101582310,2	K562	blood:
6	chr9:101556573..101560424-chr9:101566029..101574080,12	MCF-7	breast:
7	chr9:101550194..101555244-chr9:101566657..101571786,8	MCF-7	breast:
8	chr9:101551293..101553847-chr9:101568036..101571328,4	K562	blood:
9	chr9:101555483..101562112-chr9:101568669..101573087,9	K562	blood:
10	chr9:101557242..101560519-chr9:101566443..101572716,8	MCF-7	breast:
11	chr9:101568251..101569109-chr9:101760833..101761361,2	MCF-7	breast:

No data

Variant related genes	Relation type
GALNT12	TF binding region
GALNT12	CpG island
ENSG00000204291	Chromatin interaction
ENSG00000165138	Chromatin interaction
ENSG00000119514	Chromatin interaction
ENSG00000270412	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11787982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11789133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11790188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11790900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11791408	1.00[EUR][1000 genomes]
rs11792301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11792605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11793007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11793365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11794260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11794814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11794957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11795201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28512311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35229220	1.00[EUR][1000 genomes]
rs41283626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283630	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45543535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61025806	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101559600-101569000	Weak transcription	Pancreas	Pancrea
2	chr9:101559600-101569600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:101562600-101569400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:101565400-101569000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:101566200-101569200	Weak transcription	Fetal Stomach	stomach
6	chr9:101567400-101569200	Weak transcription	Fetal Lung	lung
7	chr9:101567400-101569400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:101567400-101569400	Enhancers	Fetal Intestine Small	intestine
9	chr9:101567400-101569400	Enhancers	K562	blood
10	chr9:101567400-101569600	Enhancers	HMEC	breast
11	chr9:101567600-101569200	Enhancers	Colonic Mucosa	Colon
12	chr9:101567600-101569400	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:101567600-101569400	Enhancers	Esophagus	oesophagus
14	chr9:101567600-101569400	Enhancers	Fetal Intestine Large	intestine
15	chr9:101567600-101569600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:101567600-101569600	Enhancers	Gastric	stomach
17	chr9:101567600-101569600	Enhancers	NHEK	skin
18	chr9:101567600-101570000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:101567800-101569000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:101567800-101569400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:101567800-101569400	Weak transcription	Right Ventricle	heart
22	chr9:101567800-101569400	Enhancers	Stomach Mucosa	stomach
23	chr9:101567800-101569800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:101567800-101569800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr9:101568000-101569200	Weak transcription	Spleen	Spleen
26	chr9:101568000-101569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:101568200-101569000	Enhancers	Colon Smooth Muscle	Colon
28	chr9:101568200-101569800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr9:101568400-101569200	Enhancers	Fetal Brain Male	brain
30	chr9:101568400-101570600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:101568600-101569000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:101568600-101569200	Active TSS	Rectal Smooth Muscle	rectum
33	chr9:101568600-101569200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:101568600-101569400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:101568800-101569200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:101568800-101569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:101568800-101569800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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