Variant report

Variant	rs17117976
Chromosome Location	chr12:56166445-56166446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56160238..56162855-chr12:56164043..56166481,2	MCF-7	breast:
2	chr12:56165177..56167072-chr12:56175490..56177284,2	MCF-7	breast:
3	chr12:56159003..56161708-chr12:56163699..56166884,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11832080	1.00[AMR][1000 genomes]
rs13020	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17117863	1.00[CHB][hapmap]
rs17844785	1.00[ASN][1000 genomes]
rs17844786	1.00[ASN][1000 genomes]
rs17844787	1.00[ASN][1000 genomes]
rs17844794	1.00[LWK][hapmap];0.81[MKK][hapmap]
rs2231467	1.00[ASN][1000 genomes]
rs60297652	1.00[ASN][1000 genomes]
rs6581081	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs715817	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs7296036	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs772255	1.00[CHB][hapmap]
rs772258	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7975037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 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	chr12:56139400-56174600	Weak transcription	Stomach Mucosa	stomach
2	chr12:56142000-56191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56143800-56170000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:56144600-56208800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:56144800-56198600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr12:56145200-56199400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:56149400-56209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:56150000-56167000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:56152000-56173200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:56152600-56171400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:56152600-56179600	Weak transcription	Pancreas	Pancrea
12	chr12:56152800-56209000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:56153000-56174600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:56153000-56176400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:56153000-56182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:56153200-56171600	Weak transcription	Esophagus	oesophagus
17	chr12:56153400-56175800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:56153800-56170600	Weak transcription	Ovary	ovary
19	chr12:56154400-56178400	Weak transcription	Fetal Brain Male	brain
20	chr12:56154400-56180600	Weak transcription	Right Ventricle	heart
21	chr12:56155800-56174200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:56157200-56166800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:56159000-56167000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:56159400-56167400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:56159400-56168200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:56160000-56169800	Weak transcription	Gastric	stomach
27	chr12:56160000-56170400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:56160000-56175600	Weak transcription	Spleen	Spleen
29	chr12:56160000-56179600	Weak transcription	Aorta	Aorta
30	chr12:56160000-56197600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:56160200-56180000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:56160200-56184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:56160400-56174800	Weak transcription	NHLF	lung
34	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:56160800-56168200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:56160800-56174800	Weak transcription	Lung	lung
37	chr12:56161000-56174800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:56162200-56183200	Strong transcription	Primary T cells from cord blood	blood
39	chr12:56162400-56167400	Strong transcription	Liver	Liver
40	chr12:56162400-56173400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:56162800-56166600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:56162800-56167600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:56162800-56168200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:56163000-56167600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:56163000-56168400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:56163000-56168600	Strong transcription	Dnd41	blood
47	chr12:56163000-56169000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:56163000-56174400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:56163000-56198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:56163200-56166600	Strong transcription	K562	blood

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