Variant report

Variant	rs11185790
Chromosome Location	chr10:91372533-91372534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:91372520-91372670	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91369955..91372663-chr10:91402410..91404170,2	K562	blood:
2	chr10:91368279..91370647-chr10:91371718..91374272,2	K562	blood:
3	chr10:91371070..91374344-chr10:91402272..91406788,6	MCF-7	breast:

Variant related genes	Relation type
PANK1	TF binding region
ENSG00000152782	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000232936	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1075374	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881607	0.95[ASN][1000 genomes]
rs10881608	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881610	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881611	0.84[ASN][1000 genomes]
rs10881612	0.81[ASN][1000 genomes]
rs11185760	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11185773	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11185780	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11185791	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185792	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185793	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185794	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185795	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185797	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185798	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185799	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185801	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185804	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185808	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185809	0.86[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11185811	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11185812	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185819	0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12219790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12774378	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12777243	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1409360	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1815338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1926214	0.84[ASN][1000 genomes]
rs4294495	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45510095	0.81[ASN][1000 genomes]
rs56160723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719909	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72818709	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs730287	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7476027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7905163	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943125	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolic traits	19060910	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11185790	FLJ37201	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91335400-91375600	Weak transcription	NH-A	brain
2	chr10:91343200-91372600	Weak transcription	Primary B cells from cord blood	blood
3	chr10:91345000-91392800	Weak transcription	Hela-S3	cervix
4	chr10:91348600-91373200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr10:91351600-91403400	Weak transcription	Esophagus	oesophagus
6	chr10:91351800-91373200	Weak transcription	Pancreas	Pancrea
7	chr10:91352200-91373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:91352200-91373400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:91352600-91373200	Weak transcription	Adipose Nuclei	Adipose
10	chr10:91352600-91403400	Weak transcription	Small Intestine	intestine
11	chr10:91353200-91377000	Weak transcription	Lung	lung
12	chr10:91353600-91374000	Weak transcription	HSMM	muscle
13	chr10:91353800-91403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:91354800-91378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:91356800-91378200	Weak transcription	Spleen	Spleen
16	chr10:91357800-91373400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr10:91358600-91377600	Weak transcription	Psoas Muscle	Psoas
18	chr10:91359200-91373200	Weak transcription	NHLF	lung
19	chr10:91359400-91393000	Weak transcription	NHEK	skin
20	chr10:91359800-91373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:91359800-91403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:91360000-91374600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:91363000-91374800	Weak transcription	Fetal Kidney	kidney
24	chr10:91363200-91377000	Weak transcription	Brain Substantia Nigra	brain
25	chr10:91363200-91377000	Weak transcription	Fetal Heart	heart
26	chr10:91366600-91375200	Weak transcription	HUVEC	blood vessel
27	chr10:91369600-91374800	Weak transcription	Fetal Thymus	thymus
28	chr10:91369800-91373800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:91370000-91372600	Weak transcription	Gastric	stomach
30	chr10:91370000-91373000	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:91370000-91373400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr10:91370000-91373400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:91370000-91374000	Weak transcription	Ovary	ovary
34	chr10:91370000-91375400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:91370000-91380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:91370200-91372800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:91370200-91373400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:91370200-91375400	Weak transcription	Fetal Intestine Small	intestine
39	chr10:91370200-91375600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:91370200-91376600	Weak transcription	Osteobl	bone
41	chr10:91370200-91381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:91370200-91385800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:91370200-91403200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:91370600-91373200	Weak transcription	GM12878-XiMat	blood
45	chr10:91370800-91375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:91371000-91372800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:91371000-91392800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:91371400-91373800	Weak transcription	Fetal Brain Male	brain
49	chr10:91371400-91389400	Weak transcription	A549	lung
50	chr10:91371600-91373200	Weak transcription	Brain Angular Gyrus	brain

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