Variant report

Variant	rs8070432
Chromosome Location	chr17:17480474-17480475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17480461-17480511	HPAEpiC	pulmonary alveolar:	n/a
2	chr17:17480461-17480511	AoSMC	blood vessel:	n/a
3	chr17:17480461-17480511	HCPEpiC	choroid plexus:	n/a
4	chr17:17480461-17480511	BJ	skin:	n/a
5	chr17:17480461-17480511	GM12892	blood:	n/a
6	chr17:17480461-17480511	ProgFib	skin:	n/a
7	chr17:17480461-17480511	HRCEpiC	kidney:	n/a
8	chr17:17480461-17480511	AG09319	gingival:	n/a
9	chr17:17480461-17480511	SK-N-SH_RA	brain:	n/a
10	chr17:17480461-17480511	GM12891	blood:	n/a
11	chr17:17480461-17480511	HCT-116	colon:	n/a
12	chr17:17480461-17480511	HNPCEpiC	eye:	n/a
13	chr17:17480461-17480511	SK-N-MC	brain:	n/a
14	chr17:17480461-17480511	MCF-7	breast:	n/a
15	chr17:17480461-17480511	GM12878	blood:	n/a
16	chr17:17480461-17480511	RPTEC	kidney:	n/a
17	chr17:17480461-17480511	T-47D	breast:	n/a
18	chr17:17480461-17480511	HUVEC	blood vessel:	n/a
19	chr17:17480461-17480511	Hela-S3	cervix:	n/a
20	chr17:17480461-17480511	AG04450	lung:	fetal
21	chr17:17480461-17480511	HL-60	blood:	n/a
22	chr17:17480461-17480511	Caco-2	colon:	n/a
23	chr17:17480461-17480511	HIPEpiC	eye:	n/a
24	chr17:17480461-17480511	ovcar-3	ovarian:	n/a
25	chr17:17480461-17480511	BE2_C	brain:	n/a
26	chr17:17480461-17480511	HAEpiC	amniotic membrane:	n/a
27	chr17:17480461-17480511	U87	brain:	n/a
28	chr17:17480461-17480511	H1-hESC	embryonic stem cell:	embryo
29	chr17:17480461-17480511	AG10803	skin:	n/a
30	chr17:17480461-17480511	NH-A	brain:	n/a
31	chr17:17480461-17480511	ECC-1	luminal epithelium:	n/a
32	chr17:17480461-17480511	IMR90	lung:	fetal
33	chr17:17480461-17480511	NHDF-neo	bronchial:	n/a
34	chr17:17480461-17480511	GM06990	blood:	n/a
35	chr17:17480461-17480511	LNCaP	prostate:	n/a
36	chr17:17480461-17480511	HEK293	kidney:	embryo
37	chr17:17480461-17480511	Hepatocyte	liver:	n/a
38	chr17:17480461-17480511	HMEC	breast:	n/a
39	chr17:17480461-17480511	K562	blood:	n/a
40	chr17:17480461-17480511	HCF	heart:	n/a
41	chr17:17480461-17480511	HepG2	liver:	n/a
42	chr17:17480461-17480511	GM19239	blood:	n/a
43	chr17:17480461-17480511	HRE	kidney:	n/a
44	chr17:17480461-17480511	HRPEpiC	eye:	n/a
45	chr17:17480461-17480511	SKMC	muscle:	n/a
46	chr17:17480461-17480511	AG04449	skin:	fetal
47	chr17:17480461-17480511	A549	lung:	n/a
48	chr17:17480461-17480511	SK-N-SH	brain:	n/a
49	chr17:17480461-17480511	HCM	heart:	n/a
50	chr17:17480461-17480511	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17480072..17482528-chr17:17493213..17495620,3	MCF-7	breast:
2	chr17:17478310..17481534-chr17:17481749..17484707,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-468P	CpG island
ENSG00000206730	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10401038	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11651280	0.87[EUR][1000 genomes]
rs11651378	1.00[CEU][hapmap]
rs11651957	0.81[EUR][1000 genomes]
rs11654553	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11654777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11658311	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11658944	1.00[CEU][hapmap]
rs11659047	1.00[CEU][hapmap]
rs13342397	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16961845	1.00[AMR][1000 genomes]
rs28583584	0.96[EUR][1000 genomes]
rs28636952	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28652618	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35301480	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35838363	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56030759	0.94[EUR][1000 genomes]
rs58729290	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60831194	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7210978	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7214152	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7214988	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7215055	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7216223	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7217764	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs7219568	1.00[CEU][hapmap]
rs7222358	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7224725	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7225421	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978969	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73978990	0.83[EUR][1000 genomes]
rs8064558	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8071007	0.83[EUR][1000 genomes]
rs8074742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8081961	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs897456	1.00[CEU][hapmap]
rs9889584	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9889795	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9890062	0.82[AMR][1000 genomes]
rs9896285	1.00[CEU][hapmap]
rs9897362	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9903468	0.91[AMR][1000 genomes]
rs9903503	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9904004	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9905032	1.00[CEU][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9905191	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9910151	1.00[CEU][hapmap]
rs9910747	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9911823	1.00[CEU][hapmap]
rs9944423	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr17:17466000-17484000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr17:17468800-17482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:17468800-17484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:17468800-17484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:17469000-17482000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
9	chr17:17469600-17483800	Weak transcription	Osteobl	bone
10	chr17:17470200-17483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:17470800-17483600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:17471600-17482800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
14	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:17473600-17484000	Weak transcription	HSMMtube	muscle
17	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:17474400-17481200	Strong transcription	Fetal Stomach	stomach
19	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
20	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17475000-17483200	Weak transcription	Stomach Mucosa	stomach
22	chr17:17475600-17484400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:17475800-17484000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:17476800-17480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:17477000-17480600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr17:17477200-17480600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:17477800-17480600	Strong transcription	Dnd41	blood
28	chr17:17477800-17481000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:17478000-17480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:17478000-17480600	Strong transcription	A549	lung
31	chr17:17478000-17480800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:17478000-17480800	Strong transcription	HepG2	liver
33	chr17:17478200-17480600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:17478200-17480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:17478200-17480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17478200-17480800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:17478200-17480800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr17:17478200-17481000	Genic enhancers	Liver	Liver
39	chr17:17478200-17493800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr17:17478400-17480600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:17478600-17480600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr17:17478800-17480600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:17478800-17481000	Enhancers	Fetal Heart	heart
44	chr17:17479000-17483200	Weak transcription	Gastric	stomach
45	chr17:17479000-17483800	Weak transcription	Hela-S3	cervix
46	chr17:17479200-17481200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:17479400-17483800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr17:17479600-17480800	Strong transcription	Brain Anterior Caudate	brain
49	chr17:17479600-17483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:17479800-17480600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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