Variant report

Variant	rs9890700
Chromosome Location	chr17:17182513-17182514
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17177648..17180936-chr17:17181197..17184729,6	MCF-7	breast:
2	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:
3	chr17:17166616..17168183-chr17:17181241..17182822,2	MCF-7	breast:
4	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
5	chr17:17179863..17182572-chr17:17182928..17185820,4	K562	blood:
6	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
7	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:
8	chr17:17159982..17161623-chr17:17181233..17182802,2	K562	blood:
9	chr17:17175034..17177881-chr17:17182376..17183909,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205309	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11867522	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868052	1.00[CEU][hapmap]
rs11868392	1.00[CEU][hapmap]
rs11869283	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11869415	1.00[CEU][hapmap]
rs11870335	1.00[CEU][hapmap]
rs11871120	1.00[CEU][hapmap]
rs3744123	0.85[AMR][1000 genomes]
rs57800482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61750032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502560	1.00[CEU][hapmap]
rs7215207	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7223773	1.00[CEU][hapmap]
rs7225977	1.00[CEU][hapmap]
rs8064533	1.00[AMR][1000 genomes]
rs8066280	1.00[CEU][hapmap]
rs8067672	1.00[CEU][hapmap]
rs8073346	1.00[CEU][hapmap]
rs8075194	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891561	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9905615	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9910071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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 target site	19 gene(s)	inside rSNPs	diseases
6	nsv9499	chr17:17181611-17187670	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 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	chr17:17163600-17182600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:17169800-17183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17171800-17183000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:17174400-17182600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:17174600-17183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:17174800-17182600	Weak transcription	HSMMtube	muscle
7	chr17:17174800-17183000	Weak transcription	HSMM	muscle
8	chr17:17177400-17182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:17177400-17182600	Weak transcription	NHLF	lung
10	chr17:17177400-17182800	Weak transcription	Fetal Lung	lung
11	chr17:17177400-17183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:17177600-17183000	Weak transcription	Small Intestine	intestine
13	chr17:17177800-17182600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:17177800-17182600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:17177800-17182600	Weak transcription	Brain Substantia Nigra	brain
16	chr17:17177800-17182600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:17178200-17182600	Weak transcription	Osteobl	bone
18	chr17:17178400-17182600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:17178400-17182600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:17178400-17182600	Weak transcription	HUVEC	blood vessel
21	chr17:17178400-17182800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:17178400-17183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:17178600-17183000	Weak transcription	Colonic Mucosa	Colon
24	chr17:17178600-17183200	Weak transcription	Esophagus	oesophagus
25	chr17:17178800-17182800	Weak transcription	Fetal Kidney	kidney
26	chr17:17178800-17183000	Weak transcription	Spleen	Spleen
27	chr17:17178800-17183200	Weak transcription	Left Ventricle	heart
28	chr17:17179000-17182600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:17179000-17182600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:17179000-17182600	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:17179000-17183600	Weak transcription	Aorta	Aorta
32	chr17:17179200-17183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:17179200-17183200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr17:17179400-17182600	Weak transcription	Brain Germinal Matrix	brain
35	chr17:17179400-17183000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr17:17179600-17182600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:17179600-17182600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:17179600-17182600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:17179600-17182600	Weak transcription	Placenta	Placenta
40	chr17:17179600-17182800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:17179600-17182800	Weak transcription	Fetal Brain Female	brain
42	chr17:17179600-17182800	Weak transcription	Fetal Intestine Large	intestine
43	chr17:17179600-17183000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr17:17179600-17183200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:17179600-17183200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:17179800-17182600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:17179800-17182600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:17179800-17183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:17180000-17182600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr17:17180000-17182800	Enhancers	Primary T helper cells PMA-I stimulated	--

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