Variant report

Variant	rs11870997
Chromosome Location	chr17:16934485-16934486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16932063..16934977-chr17:16936868..16939174,3	K562	blood:
2	chr17:16931293..16933179-chr17:16934223..16937186,2	MCF-7	breast:
3	chr17:16931573..16934044-chr17:16934220..16938314,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10852842	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11078371	1.00[JPT][hapmap]
rs11870035	0.84[AMR][1000 genomes]
rs11870422	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870483	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12601422	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs28452405	0.81[ASN][1000 genomes]
rs34001712	0.81[ASN][1000 genomes]
rs35650871	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3744137	0.81[AMR][1000 genomes]
rs3744138	0.81[AMR][1000 genomes]
rs4073688	0.95[JPT][hapmap]
rs4074612	1.00[JPT][hapmap]
rs4452010	1.00[YRI][hapmap]
rs4468683	0.84[ASN][1000 genomes]
rs4589617	0.89[ASN][1000 genomes]
rs4629023	1.00[JPT][hapmap]
rs4641803	0.92[ASN][1000 genomes]
rs4985716	0.82[ASN][1000 genomes]
rs4985721	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985730	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985779	1.00[YRI][hapmap]
rs4985780	1.00[YRI][hapmap]
rs57729820	0.83[ASN][1000 genomes]
rs59320277	0.81[AMR][1000 genomes]
rs61242604	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7212275	0.82[ASN][1000 genomes]
rs7214429	0.81[AMR][1000 genomes]
rs8071254	0.83[ASN][1000 genomes]
rs8076273	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9892695	0.93[ASN][1000 genomes]
rs9906028	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9907109	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv978376	chr17:16934418-16938973	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16930200-16936200	Enhancers	Fetal Muscle Leg	muscle
2	chr17:16930400-16936600	Enhancers	Fetal Muscle Trunk	muscle
3	chr17:16930600-16936000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:16930600-16936200	Enhancers	HMEC	breast
5	chr17:16930600-16937600	Enhancers	HSMMtube	muscle
6	chr17:16930800-16935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:16930800-16936000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:16931000-16936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:16931400-16936000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:16931600-16936400	Enhancers	Fetal Lung	lung
11	chr17:16932000-16935000	Weak transcription	Brain Angular Gyrus	brain
12	chr17:16932000-16935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:16932200-16935200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:16932200-16935200	Weak transcription	NHLF	lung
15	chr17:16932200-16939800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:16932400-16935200	Weak transcription	Spleen	Spleen
17	chr17:16932400-16940600	Enhancers	HSMM	muscle
18	chr17:16932600-16934600	Weak transcription	NHDF-Ad	bronchial
19	chr17:16932600-16935000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:16932600-16936000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr17:16932800-16934600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:16932800-16944200	Weak transcription	Fetal Brain Female	brain
23	chr17:16933000-16935000	Weak transcription	NHEK	skin
24	chr17:16933000-16935200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:16933000-16935400	Enhancers	A549	lung
26	chr17:16933000-16935600	Weak transcription	Esophagus	oesophagus
27	chr17:16933200-16935200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:16933200-16935200	Weak transcription	Fetal Kidney	kidney
29	chr17:16933200-16935200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:16933200-16935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:16933200-16936400	Enhancers	Brain Hippocampus Middle	brain
32	chr17:16933200-16936600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:16933200-16936800	Weak transcription	Fetal Thymus	thymus
34	chr17:16933400-16936200	Enhancers	Brain Cingulate Gyrus	brain
35	chr17:16933400-16936200	Enhancers	HUVEC	blood vessel
36	chr17:16933600-16935200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:16933600-16935200	Enhancers	HepG2	liver
38	chr17:16933600-16935200	Weak transcription	K562	blood
39	chr17:16933600-16935400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:16933600-16935600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:16933600-16935800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr17:16933600-16936000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr17:16933600-16936000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr17:16933600-16936200	Enhancers	Hela-S3	cervix
45	chr17:16933600-16936200	Enhancers	NH-A	brain
46	chr17:16933800-16934800	Weak transcription	Brain Substantia Nigra	brain
47	chr17:16933800-16935200	Weak transcription	Brain Anterior Caudate	brain
48	chr17:16933800-16935400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:16933800-16936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr17:16933800-16936200	Enhancers	Cortex derived primary cultured neurospheres	brain

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