Variant report

Variant	rs9910075
Chromosome Location	chr17:17655073-17655074
allele	C/T
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17654231..17656379-chr17:17725654..17728843,4	K562	blood:
2	chr17:17654471..17656540-chr17:17686884..17689253,2	K562	blood:
3	chr17:17653595..17657519-chr17:17683947..17689253,6	K562	blood:
4	chr17:17624565..17630367-chr17:17651647..17657037,7	MCF-7	breast:
5	chr17:17653607..17656279-chr17:17667368..17669834,2	K562	blood:
6	chr17:17652531..17655090-chr17:17743564..17745532,2	K562	blood:
7	chr17:17653399..17659141-chr17:17659467..17667043,10	MCF-7	breast:
8	chr17:17583783..17586147-chr17:17655044..17657430,3	MCF-7	breast:
9	chr17:17584732..17587492-chr17:17653681..17655821,3	MCF-7	breast:
10	chr17:17653892..17657183-chr17:17684607..17686589,3	K562	blood:
11	chr17:17594932..17600890-chr17:17651321..17655426,6	MCF-7	breast:
12	chr17:17653860..17663088-chr17:17683787..17689208,13	MCF-7	breast:
13	chr17:17654401..17657547-chr17:17674732..17678193,3	K562	blood:
14	chr17:17654983..17656803-chr17:17691240..17693922,2	MCF-7	breast:
15	chr17:17654066..17657640-chr17:17714232..17717247,3	K562	blood:
16	chr17:17653949..17655506-chr17:17721611..17723964,2	MCF-7	breast:
17	chr17:17654775..17657908-chr17:17671438..17673241,3	K562	blood:
18	chr17:17641769..17643720-chr17:17654952..17657239,3	MCF-7	breast:
19	chr17:17623843..17637985-chr17:17653006..17664308,33	MCF-7	breast:
20	chr17:17583228..17586605-chr17:17652052..17657324,6	K562	blood:
21	chr17:17588143..17591255-chr17:17654144..17657655,3	MCF-7	breast:
22	chr17:17588517..17590948-chr17:17654119..17657246,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000207839	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11078396	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078397	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11651378	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11651383	0.98[EUR][1000 genomes]
rs11652525	0.98[EUR][1000 genomes]
rs11652656	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11653007	1.00[CEU][hapmap]
rs11653424	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11653696	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11654482	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11656769	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11658846	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11659047	0.85[GIH][hapmap]
rs12103565	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12603397	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs35686634	0.81[EUR][1000 genomes]
rs4925112	1.00[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs55646572	0.81[EUR][1000 genomes]
rs56022233	0.98[EUR][1000 genomes]
rs60149982	0.98[EUR][1000 genomes]
rs60549849	0.98[EUR][1000 genomes]
rs60889477	0.96[EUR][1000 genomes]
rs6502612	0.83[EUR][1000 genomes]
rs7217764	0.85[GIH][hapmap]
rs7219568	0.85[GIH][hapmap]
rs7222358	0.85[GIH][hapmap]
rs7224725	0.85[GIH][hapmap]
rs73295691	0.98[EUR][1000 genomes]
rs73295697	0.86[ASN][1000 genomes]
rs73295699	0.96[EUR][1000 genomes]
rs8066159	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs8066177	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs8079880	0.91[EUR][1000 genomes]
rs9897362	0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv532109	chr17:17630064-17700497	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	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
25	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
26	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
27	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
28	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17643200-17655200	Weak transcription	Aorta	Aorta
2	chr17:17646200-17655800	Weak transcription	Ovary	ovary
3	chr17:17648400-17655200	Enhancers	Brain Germinal Matrix	brain
4	chr17:17648400-17655800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:17649200-17655200	Enhancers	Right Ventricle	heart
6	chr17:17649800-17655200	Enhancers	Brain Hippocampus Middle	brain
7	chr17:17650400-17655400	Enhancers	HMEC	breast
8	chr17:17651400-17657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:17651600-17655200	Enhancers	Brain Anterior Caudate	brain
10	chr17:17651600-17663600	Enhancers	Fetal Heart	heart
11	chr17:17651800-17655200	Enhancers	Fetal Muscle Leg	muscle
12	chr17:17652000-17655200	Enhancers	Placenta	Placenta
13	chr17:17652000-17655200	Enhancers	A549	lung
14	chr17:17652000-17655800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:17652000-17657000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17652200-17655800	Enhancers	Spleen	Spleen
17	chr17:17652400-17655200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:17652400-17655400	Enhancers	Lung	lung
19	chr17:17652600-17655200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr17:17652600-17655400	Enhancers	Fetal Muscle Trunk	muscle
21	chr17:17652600-17655800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17652800-17655400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr17:17652800-17655800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr17:17652800-17655800	Enhancers	HUVEC	blood vessel
25	chr17:17653000-17655200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr17:17653000-17655200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr17:17653000-17655400	Enhancers	Pancreas	Pancrea
28	chr17:17653000-17655800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:17653000-17655800	Enhancers	Stomach Mucosa	stomach
30	chr17:17653200-17655600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:17653400-17655200	Enhancers	Brain Cingulate Gyrus	brain
32	chr17:17653400-17655800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:17653600-17655800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr17:17653800-17655200	Enhancers	HSMMtube	muscle
35	chr17:17653800-17655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:17653800-17656400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr17:17654000-17655200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr17:17654000-17655200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr17:17654000-17655400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:17654000-17655400	Enhancers	Left Ventricle	heart
41	chr17:17654000-17655600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr17:17654000-17655600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr17:17654000-17655800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr17:17654000-17655800	Genic enhancers	Fetal Intestine Small	intestine
45	chr17:17654000-17657400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:17654200-17655200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:17654200-17655200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr17:17654200-17655200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr17:17654200-17655200	Enhancers	Esophagus	oesophagus
50	chr17:17654200-17655200	Enhancers	HepG2	liver

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