Variant report

Variant	rs7214988
Chromosome Location	chr17:17491836-17491837
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17490374..17492011-chr17:17493487..17495399,2	K562	blood:
2	chr17:17489884..17492069-chr17:17492547..17495399,3	K562	blood:
3	chr17:17490611..17493814-chr17:17493866..17497432,4	MCF-7	breast:
4	chr17:17379010..17381730-chr17:17491552..17493684,2	K562	blood:
5	chr17:17490848..17493692-chr17:17505385..17507951,2	K562	blood:
6	chr17:17481596..17485305-chr17:17490709..17495159,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000141026	Chromatin interaction
ENSG00000206730	Chromatin interaction
ENSG00000264666	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10401038	0.80[EUR][1000 genomes]
rs11651280	0.83[EUR][1000 genomes]
rs11651378	1.00[CEU][hapmap]
rs11651957	0.85[EUR][1000 genomes]
rs11654553	0.89[EUR][1000 genomes]
rs11654777	0.89[EUR][1000 genomes]
rs11658311	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11658944	1.00[CEU][hapmap]
rs11659047	1.00[CEU][hapmap]
rs13342397	0.86[EUR][1000 genomes]
rs28454257	0.83[EUR][1000 genomes]
rs28583584	1.00[EUR][1000 genomes]
rs28636952	0.86[EUR][1000 genomes]
rs28652618	1.00[EUR][1000 genomes]
rs28715719	0.83[EUR][1000 genomes]
rs28884183	0.83[EUR][1000 genomes]
rs35301480	0.80[EUR][1000 genomes]
rs35838363	0.89[EUR][1000 genomes]
rs56030759	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56044345	0.83[EUR][1000 genomes]
rs56177028	0.83[EUR][1000 genomes]
rs56327101	0.83[EUR][1000 genomes]
rs57638011	0.83[EUR][1000 genomes]
rs60831194	0.89[EUR][1000 genomes]
rs7210978	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7214152	0.80[EUR][1000 genomes]
rs7215055	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7216223	0.80[EUR][1000 genomes]
rs7217764	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7219568	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7222358	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7222759	0.81[EUR][1000 genomes]
rs7224725	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7225421	0.89[EUR][1000 genomes]
rs73978990	0.87[EUR][1000 genomes]
rs8064558	1.00[CEU][hapmap]
rs8070432	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8071007	0.87[EUR][1000 genomes]
rs8074742	0.89[EUR][1000 genomes]
rs8074981	0.83[EUR][1000 genomes]
rs8076601	0.83[EUR][1000 genomes]
rs8077671	0.83[EUR][1000 genomes]
rs8078513	1.00[CEU][hapmap]
rs897456	1.00[CEU][hapmap]
rs9889584	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9889795	0.80[EUR][1000 genomes]
rs9896285	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9897362	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9903503	0.89[EUR][1000 genomes]
rs9904004	0.94[EUR][1000 genomes]
rs9905032	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9905191	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9910151	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9910747	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9911823	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9914118	0.81[EUR][1000 genomes]
rs9944423	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
3	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
8	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17478200-17493800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:17479800-17493400	Weak transcription	HMEC	breast
11	chr17:17480200-17493000	Weak transcription	Brain Germinal Matrix	brain
12	chr17:17480200-17493600	Weak transcription	Esophagus	oesophagus
13	chr17:17480200-17493600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:17480400-17492800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:17480400-17493400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:17480400-17493400	Weak transcription	Pancreas	Pancrea
17	chr17:17480400-17493600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr17:17480400-17493600	Weak transcription	Fetal Brain Female	brain
19	chr17:17480400-17493600	Weak transcription	Left Ventricle	heart
20	chr17:17480400-17493600	Weak transcription	Spleen	Spleen
21	chr17:17480400-17493600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr17:17480400-17493800	Weak transcription	Primary T cells from cord blood	blood
23	chr17:17480400-17493800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:17480400-17493800	Weak transcription	Colonic Mucosa	Colon
25	chr17:17480600-17492000	Weak transcription	Dnd41	blood
26	chr17:17480600-17493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:17480600-17493400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:17480600-17493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:17480600-17493400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr17:17480600-17493600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:17480600-17493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:17480600-17493600	Weak transcription	NHLF	lung
33	chr17:17480800-17493200	Weak transcription	Lung	lung
34	chr17:17480800-17493800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:17481000-17494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr17:17483600-17494200	Weak transcription	Gastric	stomach
37	chr17:17484600-17493200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:17484600-17493600	Weak transcription	Right Ventricle	heart
39	chr17:17485000-17493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:17485000-17493600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:17485200-17493400	Weak transcription	A549	lung
42	chr17:17485200-17493400	Weak transcription	Hela-S3	cervix
43	chr17:17485200-17493600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr17:17485200-17493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:17485400-17493600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:17485400-17493800	Weak transcription	Placenta	Placenta
47	chr17:17485800-17493400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:17485800-17493400	Weak transcription	Fetal Muscle Leg	muscle
49	chr17:17485800-17493400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:17486200-17493200	Weak transcription	Fetal Muscle Trunk	muscle

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