Variant report

Variant	rs2497740
Chromosome Location	chr10:116323238-116323239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116318267..116320145-chr10:116322001..116323689,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12413487	0.80[AMR][1000 genomes]
rs1333688	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483534	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483535	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483536	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483537	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2483538	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2483539	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483540	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483542	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483543	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483545	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483549	0.82[CHB][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2483550	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483554	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483555	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483556	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483557	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483558	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483559	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2483560	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2483573	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2483590	0.85[AMR][1000 genomes]
rs2497724	0.86[ASN][1000 genomes]
rs2497725	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497726	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497727	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497728	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497729	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497730	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497731	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497732	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497733	0.82[CHB][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2497735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497736	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497737	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497738	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497739	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497743	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2497744	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128920	0.86[AMR][1000 genomes]
rs7085345	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7091986	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7913199	0.85[TSI][hapmap];0.86[AMR][1000 genomes]
rs7915116	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7915301	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7915452	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9325544	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9421186	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs985273	0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2497740	ABLIM1	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116311000-116331400	Weak transcription	Fetal Brain Male	brain
2	chr10:116311600-116336600	Weak transcription	Colonic Mucosa	Colon
3	chr10:116312000-116324800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:116312000-116331000	Weak transcription	Ovary	ovary
5	chr10:116312000-116334600	Weak transcription	Esophagus	oesophagus
6	chr10:116312000-116335000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:116312000-116335200	Weak transcription	Pancreas	Pancrea
8	chr10:116312200-116330800	Weak transcription	Adipose Nuclei	Adipose
9	chr10:116312400-116331200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:116317000-116324800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:116318000-116335200	Weak transcription	Psoas Muscle	Psoas
12	chr10:116318000-116337200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:116318200-116324800	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:116318400-116324600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr10:116318400-116324600	Weak transcription	HSMMtube	muscle
16	chr10:116318400-116325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:116318400-116328400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:116318400-116336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:116318600-116325000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:116319000-116329400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:116319000-116330400	Weak transcription	Fetal Intestine Small	intestine
22	chr10:116319600-116329400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:116320400-116323800	Weak transcription	Left Ventricle	heart
24	chr10:116320400-116334000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:116321400-116329400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:116321400-116336600	Weak transcription	Fetal Lung	lung
27	chr10:116322400-116331800	Strong transcription	Liver	Liver
28	chr10:116322800-116324400	Weak transcription	Fetal Heart	heart
29	chr10:116322800-116326000	Weak transcription	Right Ventricle	heart
30	chr10:116322800-116330600	Weak transcription	Brain Substantia Nigra	brain
31	chr10:116323000-116325200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:116323000-116329400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr10:116323000-116334600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr10:116323000-116336000	Weak transcription	Lung	lung

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