Variant report

Variant	rs2001421
Chromosome Location	chr17:17630762-17630763
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17629833..17631855-chr17:17743142..17745640,2	MCF-7	breast:
2	chr17:17592326..17594289-chr17:17629222..17631306,2	K562	blood:
3	chr17:17591306..17603641-chr17:17622226..17637880,43	MCF-7	breast:
4	chr17:17628659..17631586-chr17:17715633..17718391,2	MCF-7	breast:
5	chr17:17582718..17591238-chr17:17621630..17636217,47	MCF-7	breast:
6	chr17:17621090..17625652-chr17:17628958..17633678,4	K562	blood:
7	chr17:17623309..17626768-chr17:17630272..17633678,3	K562	blood:
8	chr17:17630662..17632312-chr17:17649870..17651390,2	K562	blood:
9	chr17:17630393..17635386-chr17:17740565..17747416,7	MCF-7	breast:
10	chr17:17623843..17637985-chr17:17653006..17664308,33	MCF-7	breast:

No data

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

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12938840	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12938914	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2350962	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2882552	0.80[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs4074643	0.84[CEU][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs4244601	0.87[JPT][hapmap]
rs4636969	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924813	0.86[JPT][hapmap]
rs4925103	0.84[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]
rs4995264	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs720856	0.82[JPT][hapmap]
rs7209595	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7213879	0.84[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[ASN][1000 genomes]
rs7225141	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs8067800	0.88[EUR][1000 genomes]
rs8071107	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs9899364	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs9900148	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9905702	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9907986	0.84[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17616200-17642000	Weak transcription	K562	blood
2	chr17:17627800-17630800	Weak transcription	Liver	Liver
3	chr17:17627800-17642600	Weak transcription	Aorta	Aorta
4	chr17:17628000-17630800	Active TSS	Brain Anterior Caudate	brain
5	chr17:17628000-17632200	Enhancers	Spleen	Spleen
6	chr17:17628000-17633000	Weak transcription	NHDF-Ad	bronchial
7	chr17:17628000-17635800	Weak transcription	HSMM	muscle
8	chr17:17628200-17631800	Weak transcription	NHLF	lung
9	chr17:17628200-17636200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr17:17628400-17636600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:17628600-17630800	Genic enhancers	HMEC	breast
12	chr17:17628600-17631200	Weak transcription	Thymus	Thymus
13	chr17:17628800-17633000	Weak transcription	Osteobl	bone
14	chr17:17628800-17634000	Weak transcription	Ovary	ovary
15	chr17:17628800-17641000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:17628800-17641200	Weak transcription	Fetal Kidney	kidney
17	chr17:17629000-17631000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr17:17629000-17632200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:17629000-17632200	Weak transcription	Brain Substantia Nigra	brain
20	chr17:17629200-17636200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:17629400-17631400	Genic enhancers	A549	lung
22	chr17:17629400-17632000	Weak transcription	Colonic Mucosa	Colon
23	chr17:17629400-17636200	Strong transcription	Dnd41	blood
24	chr17:17629600-17630800	Weak transcription	Fetal Heart	heart
25	chr17:17629600-17630800	Weak transcription	Right Ventricle	heart
26	chr17:17629600-17631000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:17629600-17631000	Enhancers	HUVEC	blood vessel
28	chr17:17629600-17631400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:17629600-17632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:17629600-17632400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:17629600-17641200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:17629800-17630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:17629800-17630800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:17629800-17630800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:17629800-17630800	Weak transcription	Esophagus	oesophagus
36	chr17:17629800-17631000	Weak transcription	Brain Angular Gyrus	brain
37	chr17:17629800-17631000	Weak transcription	Pancreas	Pancrea
38	chr17:17629800-17631200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr17:17629800-17631200	Weak transcription	Gastric	stomach
40	chr17:17629800-17631200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:17629800-17631800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr17:17629800-17632200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:17629800-17632200	Weak transcription	Left Ventricle	heart
44	chr17:17629800-17632600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:17629800-17632600	Weak transcription	Lung	lung
46	chr17:17629800-17632600	Weak transcription	GM12878-XiMat	blood
47	chr17:17629800-17632800	Weak transcription	Colon Smooth Muscle	Colon
48	chr17:17629800-17632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:17629800-17632800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:17629800-17633000	Weak transcription	Fetal Lung	lung

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