Variant report

Variant	rs17810855
Chromosome Location	chr11:85397237-85397238
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:85396959-85397517	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:85396618-85397665	U87	brain:	n/a	n/a
3	MAX	chr11:85396576-85397535	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr11:85397179-85397460	HepG2	liver:	n/a	n/a
5	NFYB	chr11:85397230-85397491	GM12878	blood:	n/a	chr11:85397375-85397389 chr11:85397375-85397390 chr11:85397377-85397387 chr11:85397375-85397390 chr11:85397374-85397386 chr11:85397375-85397388
6	PBX3	chr11:85397166-85397597	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr11:85396941-85397566	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:85396738-85397510	PANC-1	pancreas:	n/a	n/a
9	EP300	chr11:85396999-85397477	SK-N-SH_RA	brain:	n/a	n/a
10	NFIC	chr11:85396654-85397686	SK-N-SH	brain:	n/a	n/a
11	SETDB1	chr11:85396750-85397688	U2OS	brain:	n/a	n/a
12	SIN3AK20	chr11:85397125-85397401	SK-N-SH	brain:	n/a	n/a
13	MAFK	chr11:85397015-85397389	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:85396032-85397685	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:85396630-85397665	U87	brain:	n/a	n/a
16	KAP1	chr11:85396400-85397492	HEK293	kidney:	n/a	n/a
17	YY1	chr11:85397117-85397488	SK-N-SH_RA	brain:	n/a	n/a
18	POLR2A	chr11:85396904-85397576	Gliobla	brain:	n/a	n/a
19	PBX3	chr11:85397170-85397614	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr11:85396387-85397763	U87	brain:	n/a	n/a
21	CHD2	chr11:85397213-85397266	HepG2	liver:	n/a	n/a
22	MAFF	chr11:85397001-85397277	HepG2	liver:	n/a	n/a
23	MAFK	chr11:85396975-85397292	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:85392491-85397452	K562	blood:	n/a	n/a
25	RFX5	chr11:85397102-85397469	HepG2	liver:	n/a	chr11:85397227-85397236 chr11:85397224-85397238 chr11:85397378-85397387
26	MXI1	chr11:85395818-85397999	IMR90	lung:	n/a	n/a
27	POLR2A	chr11:85396292-85397741	ProgFib	skin:	n/a	n/a
28	POLR2A	chr11:85396404-85397757	U87	brain:	n/a	n/a
29	POLR2A	chr11:85396674-85397714	SK-N-SH	brain:	n/a	n/a
30	MAFK	chr11:85396725-85397519	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85397216-85397266	U87	brain:	n/a
2	chr11:85397216-85397266	AG09309	skin:	n/a
3	chr11:85397216-85397266	HAEpiC	amniotic membrane:	n/a
4	chr11:85397216-85397266	HepG2	liver:	n/a
5	chr11:85397216-85397266	HUVEC	blood vessel:	n/a
6	chr11:85397216-85397266	GM19239	blood:	n/a
7	chr11:85397216-85397266	SAEC	small airway:	n/a
8	chr11:85397216-85397266	IMR90	lung:	fetal
9	chr11:85397216-85397266	HRPEpiC	eye:	n/a
10	chr11:85397216-85397266	HL-60	blood:	n/a
11	chr11:85397216-85397266	HRCEpiC	kidney:	n/a
12	chr11:85397216-85397266	NB4	blood:	n/a
13	chr11:85397216-85397266	H1-hESC	embryonic stem cell:	embryo
14	chr11:85397216-85397266	AoSMC	blood vessel:	n/a
15	chr11:85397216-85397266	Hela-S3	cervix:	n/a
16	chr11:85397216-85397266	SKMC	muscle:	n/a
17	chr11:85397216-85397266	HEK293	kidney:	embryo
18	chr11:85397216-85397266	GM12878	blood:	n/a
19	chr11:85397216-85397266	Hepatocyte	liver:	n/a
20	chr11:85397216-85397266	CMK	blood:	n/a
21	chr11:85397216-85397266	ProgFib	skin:	n/a
22	chr11:85397216-85397266	NT2-D1	testis:	n/a
23	chr11:85397216-85397266	HMEC	breast:	n/a
24	chr11:85397216-85397266	AG10803	skin:	n/a
25	chr11:85397216-85397266	HCF	heart:	n/a
26	chr11:85397216-85397266	K562	blood:	n/a
27	chr11:85397216-85397266	MCF-7	breast:	n/a
28	chr11:85397216-85397266	BE2_C	brain:	n/a
29	chr11:85397216-85397266	GM12891	blood:	n/a
30	chr11:85397216-85397266	HCM	heart:	n/a
31	chr11:85397216-85397266	PFSK-1	brain:	n/a
32	chr11:85397216-85397266	BJ	skin:	n/a
33	chr11:85397216-85397266	SK-N-SH	brain:	n/a
34	chr11:85397216-85397266	HCT-116	colon:	n/a
35	chr11:85397216-85397266	GM06990	blood:	n/a
36	chr11:85397216-85397266	HIPEpiC	eye:	n/a
37	chr11:85397216-85397266	HEEpiC	esophagus:	n/a
38	chr11:85397216-85397266	PrEC	prostate:	n/a
39	chr11:85397216-85397266	AG09319	gingival:	n/a
40	chr11:85397216-85397266	Caco-2	colon:	n/a
41	chr11:85397216-85397266	SK-N-MC	brain:	n/a
42	chr11:85397216-85397266	HNPCEpiC	eye:	n/a
43	chr11:85397216-85397266	T-47D	breast:	n/a
44	chr11:85397216-85397266	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:85397216-85397266	NHDF-neo	bronchial:	n/a
46	chr11:85397216-85397266	NH-A	brain:	n/a
47	chr11:85397216-85397266	AG04450	lung:	fetal
48	chr11:85397216-85397266	HRE	kidney:	n/a
49	chr11:85397216-85397266	ECC-1	luminal epithelium:	n/a
50	chr11:85397216-85397266	LNCaP	prostate:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85374139..85377473-chr11:85394538..85397297,3	MCF-7	breast:
2	chr11:85338441..85340727-chr11:85396726..85399566,2	MCF-7	breast:
3	chr11:85364604..85367287-chr11:85396670..85399821,3	K562	blood:

No data

Variant related genes	Relation type
CREBZF	TF binding region
CREBZF	CpG island
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000171202	Chromatin interaction
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501597	0.81[ASN][1000 genomes]
rs11234386	0.96[ASN][1000 genomes]
rs11234387	0.96[ASN][1000 genomes]
rs11234388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11234389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11234390	0.91[ASN][1000 genomes]
rs11234391	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs11234392	0.82[ASN][1000 genomes]
rs11234393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11234395	0.82[ASN][1000 genomes]
rs11234397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11607789	0.85[CHB][hapmap]
rs17148355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17148514	0.85[CHB][hapmap]
rs17208525	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17208602	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17208616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17810701	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17810766	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17810802	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17811120	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2044393	1.00[CHB][hapmap]
rs2276018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2304342	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs2304343	1.00[JPT][hapmap]
rs2374638	0.93[ASN][1000 genomes]
rs494119	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs56695336	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57431471	0.88[ASN][1000 genomes]
rs58631677	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59508078	0.93[ASN][1000 genomes]
rs616309	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs645798	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs678376	0.85[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs72953982	0.82[ASN][1000 genomes]
rs72953991	0.82[ASN][1000 genomes]
rs72953995	0.88[ASN][1000 genomes]
rs72955904	0.88[ASN][1000 genomes]
rs72955922	0.82[ASN][1000 genomes]
rs72955939	0.81[AMR][1000 genomes]
rs72958012	0.93[ASN][1000 genomes]
rs72958014	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72958017	1.00[AFR][1000 genomes]
rs72958024	1.00[AFR][1000 genomes]
rs72958027	0.81[AMR][1000 genomes];0.95[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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
2	chr11:85394200-85401800	Weak transcription	Primary T cells from cord blood	blood
3	chr11:85394200-85404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:85394200-85406200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:85394200-85410600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:85394200-85410800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:85394400-85400000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:85394400-85410400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:85394400-85410600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:85396000-85397400	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr11:85396000-85397400	Flanking Active TSS	HSMM	muscle
12	chr11:85396000-85397600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:85396000-85397800	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr11:85396000-85397800	Active TSS	Ovary	ovary
15	chr11:85396200-85397400	Active TSS	Fetal Kidney	kidney
16	chr11:85396200-85397800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:85396400-85397600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:85396400-85397600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr11:85396600-85397400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:85396600-85397400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:85396600-85397400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:85396600-85397600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:85396600-85397600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:85396800-85397400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:85396800-85397400	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:85396800-85397400	Active TSS	Brain Hippocampus Middle	brain
27	chr11:85396800-85397400	Active TSS	Colon Smooth Muscle	Colon
28	chr11:85396800-85397400	Active TSS	Esophagus	oesophagus
29	chr11:85396800-85397400	Active TSS	Fetal Lung	lung
30	chr11:85396800-85397400	Active TSS	Left Ventricle	heart
31	chr11:85396800-85397400	Active TSS	Psoas Muscle	Psoas
32	chr11:85396800-85397600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
34	chr11:85397000-85397400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:85397000-85397400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:85397000-85397400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr11:85397000-85397400	Active TSS	Brain Substantia Nigra	brain
38	chr11:85397000-85397400	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:85397000-85397400	Active TSS	Stomach Smooth Muscle	stomach
40	chr11:85397000-85397400	Active TSS	HSMMtube	muscle
41	chr11:85397000-85397400	Active TSS	NHDF-Ad	bronchial
42	chr11:85397000-85397400	Active TSS	NHEK	skin
43	chr11:85397000-85397400	Active TSS	NHLF	lung
44	chr11:85397000-85397600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:85397000-85397600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:85397000-85397600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:85397000-85397600	Active TSS	Brain Angular Gyrus	brain
48	chr11:85397000-85397600	Active TSS	Brain Anterior Caudate	brain
49	chr11:85397000-85397600	Active TSS	Right Atrium	heart
50	chr11:85397000-85397800	Enhancers	Cortex derived primary cultured neurospheres	brain

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