Variant report

Variant	rs591878
Chromosome Location	chr10:5935437-5935438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5935430-5935462	K562	blood:	n/a	n/a
2	GATA2	chr10:5935314-5935545	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5935195..5937102-chr10:6243588..6245241,2	MCF-7	breast:
2	chr10:5726920..5728949-chr10:5933520..5936437,2	K562	blood:
3	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
4	chr10:5934107..5937505-chr10:5944279..5947723,3	K562	blood:
5	chr10:5933201..5936012-chr10:6019635..6021875,2	K562	blood:
6	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
7	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:

No data

Variant related genes	Relation type
FBXO18	TF binding region
ANKRD16	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2274029	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap]
rs2320	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs2669122	1.00[ASN][1000 genomes]
rs2669126	0.96[ASN][1000 genomes]
rs4293039	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs582359	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs591510	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.99[ASN][1000 genomes]
rs593610	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.99[ASN][1000 genomes]
rs595923	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs598331	0.90[ASN][1000 genomes]
rs603780	0.98[ASN][1000 genomes]
rs607728	0.98[ASN][1000 genomes]
rs610093	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs621628	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs622758	0.96[ASN][1000 genomes]
rs626344	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633797	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs633928	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633930	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs635532	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636578	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs647945	0.91[ASN][1000 genomes]
rs649537	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664603	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs668498	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs670856	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs672126	0.93[ASN][1000 genomes]
rs680020	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs685852	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686854	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs688388	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs792348	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs907687	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs980230	0.84[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs591878	AKR1C2	cis	cerebellum	SCAN
rs591878	SFMBT2	cis	parietal	SCAN
rs591878	ANKRD16	cis	cerebellum	SCAN
rs591878	ANKRD16	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5933200-5936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5933200-5936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:5933200-5936000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:5933200-5936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:5933200-5936000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:5933200-5936400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:5933200-5948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:5933200-5949800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:5933200-5977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:5933400-5935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:5933400-5935600	Enhancers	Psoas Muscle	Psoas
12	chr10:5933400-5936000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:5933400-5936000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:5933400-5936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:5933400-5936000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:5933400-5936000	Weak transcription	Esophagus	oesophagus
17	chr10:5933400-5936400	Weak transcription	Colonic Mucosa	Colon
18	chr10:5933400-5936400	Weak transcription	Fetal Kidney	kidney
19	chr10:5933400-5936600	Weak transcription	HSMMtube	muscle
20	chr10:5933400-5938800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr10:5933400-5948200	Weak transcription	Ovary	ovary
22	chr10:5933400-5948400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:5933400-5949800	Weak transcription	Fetal Brain Male	brain
24	chr10:5933600-5935600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:5933600-5936000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:5933600-5936000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr10:5933600-5936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:5933600-5936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:5933600-5936200	Weak transcription	A549	lung
30	chr10:5933600-5937000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:5933600-5948200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr10:5933600-5951600	Weak transcription	Stomach Mucosa	stomach
33	chr10:5933800-5935600	Weak transcription	Placenta	Placenta
34	chr10:5933800-5936000	Weak transcription	Fetal Stomach	stomach
35	chr10:5933800-5936400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:5933800-5936400	Enhancers	Right Ventricle	heart
37	chr10:5933800-5939200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:5933800-5941200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:5934000-5935800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:5934000-5936000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr10:5934000-5936000	Weak transcription	HSMM	muscle
42	chr10:5934000-5936000	Genic enhancers	K562	blood
43	chr10:5934000-5936400	Weak transcription	Brain Angular Gyrus	brain
44	chr10:5934000-5936400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:5934000-5939800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:5934200-5936000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:5934200-5936000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr10:5934200-5936000	Weak transcription	Gastric	stomach
49	chr10:5934200-5936000	Weak transcription	Lung	lung
50	chr10:5934200-5936000	Weak transcription	Stomach Smooth Muscle	stomach

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