Variant report

Variant	rs1108511
Chromosome Location	chr17:17726469-17726470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
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	POLR2A	chr17:17726284-17726949	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr17:17726322-17727003	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr17:17723997-17728661	K562	blood:	n/a	n/a
4	POLR2A	chr17:17726400-17727574	NB4	blood:	n/a	n/a
5	SREBP1	chr17:17726236-17727727	GM12878	blood:	n/a	chr17:17727063-17727074
6	POLR2A	chr17:17725575-17726837	A549	lung:	n/a	n/a
7	POLR2A	chr17:17725297-17728677	K562	blood:	n/a	n/a
8	POLR2A	chr17:17723703-17728433	PBDE	blood:	n/a	n/a
9	POLR2A	chr17:17726173-17727565	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr17:17726432-17726921	HCT-116	colon:	n/a	n/a
11	BCL3	chr17:17725850-17726985	A549	lung:	n/a	n/a
12	POLR2A	chr17:17712185-17727861	K562	blood:	n/a	n/a
13	MAX	chr17:17726456-17728739	HepG2	liver:	n/a	n/a
14	REST	chr17:17726398-17726954	A549	lung:	n/a	chr17:17726480-17726487 chr17:17726458-17726472
15	STAT5A	chr17:17726449-17726868	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:17726014-17726930	HepG2	liver:	n/a	n/a
17	MAX	chr17:17726306-17728751	A549	lung:	n/a	n/a
18	MAZ	chr17:17726220-17727869	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17685134..17688509-chr17:17722863..17726624,4	MCF-7	breast:
2	chr17:17584408..17586554-chr17:17725797..17727625,2	K562	blood:
3	chr17:17583643..17586896-chr17:17724231..17729521,8	MCF-7	breast:
4	chr17:17724980..17727565-chr17:17764878..17766852,2	MCF-7	breast:
5	chr17:17584806..17586554-chr17:17724863..17727625,2	K562	blood:
6	chr17:17726446..17727206-chr17:17739539..17740685,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
SREBF1	TF binding region
ENSG00000072310	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12451589	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7217590	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7503739	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs941445	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
18	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
22	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
25	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
27	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
28	nsv907763	chr17:17673824-17749822	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
29	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
30	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
31	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
32	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
33	nsv907767	chr17:17709136-17733760	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
34	nsv907768	chr17:17709136-17747289	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 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	chr17:17718200-17728600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:17722200-17726600	Transcr. at gene 5' and 3'	Hela-S3	cervix
3	chr17:17722800-17726600	Transcr. at gene 5' and 3'	A549	lung
4	chr17:17722800-17726800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:17723200-17730000	Enhancers	Stomach Mucosa	stomach
6	chr17:17723600-17727600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:17723800-17726800	Flanking Active TSS	Liver	Liver
8	chr17:17723800-17728800	Enhancers	Gastric	stomach
9	chr17:17724000-17726600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:17724000-17726800	Transcr. at gene 5' and 3'	NHEK	skin
11	chr17:17724200-17726600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17724200-17726600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr17:17724200-17726600	Flanking Active TSS	NHDF-Ad	bronchial
14	chr17:17724200-17726800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:17724200-17726800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr17:17724200-17726800	Transcr. at gene 5' and 3'	K562	blood
17	chr17:17724400-17726600	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr17:17724400-17726800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr17:17724400-17726800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr17:17724400-17726800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr17:17724400-17727000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:17724600-17726800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:17724600-17726800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr17:17724800-17726800	Flanking Active TSS	Colonic Mucosa	Colon
25	chr17:17724800-17726800	Flanking Active TSS	Right Atrium	heart
26	chr17:17724800-17726800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr17:17725000-17729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:17725200-17726600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr17:17725200-17726600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr17:17725200-17726800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr17:17725200-17726800	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr17:17725200-17726800	Enhancers	Spleen	Spleen
33	chr17:17725400-17726600	Flanking Active TSS	NHLF	lung
34	chr17:17725400-17726800	Flanking Active TSS	Fetal Thymus	thymus
35	chr17:17725400-17726800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr17:17725400-17726800	Transcr. at gene 5' and 3'	HepG2	liver
37	chr17:17725400-17727000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:17725400-17727000	Flanking Active TSS	HMEC	breast
39	chr17:17725600-17726600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr17:17725600-17726600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr17:17725600-17726600	Enhancers	Primary B cells from peripheral blood	blood
42	chr17:17725600-17726600	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr17:17725600-17726600	Flanking Active TSS	Thymus	Thymus
44	chr17:17725600-17726800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:17725600-17726800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr17:17725600-17726800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr17:17725600-17727200	Active TSS	Brain Substantia Nigra	brain
48	chr17:17725600-17727200	Enhancers	HUVEC	blood vessel
49	chr17:17725600-17728600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:17725800-17726600	Flanking Active TSS	Fetal Brain Female	brain

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