Variant report

Variant	rs3785497
Chromosome Location	chr17:17739958-17739959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112257310..112258069-chr17:17739678..17740364,2	Hela-S3	cervix:
2	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
3	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
4	chr17:16921692..16923812-chr17:17738364..17740042,2	MCF-7	breast:
5	chr17:17739272..17740133-chr9:26892437..26893088,2	Hela-S3	cervix:
6	chr17:17739588..17740247-chr3:33480996..33481525,2	Hela-S3	cervix:
7	chr17:17739860..17740437-chr19:49122359..49122869,2	HCT-116	colon:
8	chr17:17739290..17740241-chr6:2765560..2766185,2	Hela-S3	cervix:
9	chr1:53191722..53192355-chr17:17739725..17740291,2	HCT-116	colon:
10	chr1:45196572..45197545-chr17:17739646..17740199,2	Hela-S3	cervix:
11	chr17:17739698..17740440-chr18:19284755..19285349,2	HCT-116	colon:
12	chr17:17584137..17584962-chr17:17739599..17740212,2	HCT-116	colon:
13	chr17:17739557..17740347-chr8:128748186..128748938,2	Hela-S3	cervix:
14	chr11:62606478..62609198-chr17:17739774..17741540,2	MCF-7	breast:
15	chr17:17584674..17588119-chr17:17738170..17742427,6	K562	blood:
16	chr17:17685438..17688763-chr17:17737889..17741903,5	K562	blood:
17	chr14:62162441..62163337-chr17:17739325..17740203,2	Hela-S3	cervix:
18	chr17:17682832..17684386-chr17:17738577..17741218,3	MCF-7	breast:
19	chr17:17739891..17740473-chr3:118959481..118960131,2	HCT-116	colon:
20	chr17:17695508..17697498-chr17:17739831..17741421,2	K562	blood:
21	chr17:17739614..17740366-chr5:170813823..170814560,2	Hela-S3	cervix:
22	chr15:93199083..93200722-chr17:17739000..17741179,2	MCF-7	breast:
23	chr17:17683965..17687759-chr17:17739269..17741858,4	K562	blood:
24	chr17:17739497..17740405-chr6:26027000..26027596,2	HCT-116	colon:
25	chr17:17739504..17740347-chr17:49197954..49198649,2	HCT-116	colon:
26	chr17:17739405..17740248-chr17:56708805..56709634,2	HCT-116	colon:
27	chr17:17726446..17727206-chr17:17739539..17740685,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000162378	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000258777	Chromatin interaction
ENSG00000120159	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000226746	Chromatin interaction
ENSG00000124535	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000158201	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000138166	Chromatin interaction
ENSG00000153560	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000100644	Chromatin interaction
ENSG00000223979	Chromatin interaction
ENSG00000181163	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000008294	Chromatin interaction
ENSG00000101752	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2274893	0.98[ASN][1000 genomes]
rs3744114	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56160247	0.98[ASN][1000 genomes]
rs56928492	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58219643	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7221934	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73299873	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73979211	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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	chr17:17738400-17742200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:17738600-17740600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:17738800-17740800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr17:17738800-17740800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:17738800-17741000	Flanking Active TSS	Dnd41	blood
6	chr17:17739000-17742000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:17739200-17740400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:17739200-17740400	Active TSS	Psoas Muscle	Psoas
9	chr17:17739200-17740400	Active TSS	Small Intestine	intestine
10	chr17:17739200-17740600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:17739200-17740600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:17739200-17740800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr17:17739400-17740200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:17739400-17740200	Active TSS	Brain Germinal Matrix	brain
15	chr17:17739400-17740400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:17739400-17740400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:17739400-17740400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:17739400-17740400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:17739400-17740400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:17739400-17740400	Active TSS	Liver	Liver
21	chr17:17739400-17740400	Active TSS	Brain Angular Gyrus	brain
22	chr17:17739400-17740400	Active TSS	Brain Anterior Caudate	brain
23	chr17:17739400-17740400	Active TSS	Brain Cingulate Gyrus	brain
24	chr17:17739400-17740400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr17:17739400-17740400	Active TSS	Gastric	stomach
26	chr17:17739400-17740400	Active TSS	Left Ventricle	heart
27	chr17:17739400-17740400	Active TSS	Lung	lung
28	chr17:17739400-17740400	Active TSS	Rectal Smooth Muscle	rectum
29	chr17:17739400-17740400	Transcr. at gene 5' and 3'	Right Atrium	heart
30	chr17:17739400-17740400	Active TSS	Right Ventricle	heart
31	chr17:17739400-17740400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr17:17739400-17740400	Active TSS	A549	lung
33	chr17:17739400-17740400	Active TSS	Hela-S3	cervix
34	chr17:17739400-17740400	Active TSS	HMEC	breast
35	chr17:17739400-17740400	Active TSS	HSMMtube	muscle
36	chr17:17739400-17740400	Active TSS	NHEK	skin
37	chr17:17739400-17740400	Active TSS	NHLF	lung
38	chr17:17739400-17740600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr17:17739400-17740600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr17:17739400-17740600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:17739400-17740600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:17739400-17740600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:17739400-17740600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:17739400-17740600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr17:17739400-17740600	Active TSS	Brain Substantia Nigra	brain
46	chr17:17739400-17740600	Active TSS	Esophagus	oesophagus
47	chr17:17739400-17740600	Active TSS	Fetal Kidney	kidney
48	chr17:17739400-17740600	Active TSS	HSMM	muscle
49	chr17:17739400-17740800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr17:17739400-17740800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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