Variant report

Variant	rs4568917
Chromosome Location	chr10:116411350-116411351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:116406281..116408258-chr10:116409177..116411932,2	MCF-7	breast:
2	chr10:116409220..116412035-chr10:116412365..116414494,2	K562	blood:
3	chr10:116406490..116408753-chr10:116411218..116414182,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10787544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885589	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10885590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109267	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11196807	0.82[GIH][hapmap]
rs11196828	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11196835	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196843	1.00[CEU][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11196850	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11196860	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11593135	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11597188	0.87[GIH][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12220330	0.96[ASN][1000 genomes]
rs12570718	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12776647	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1333681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17719089	0.82[GIH][hapmap];0.89[LWK][hapmap]
rs17719358	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505004	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4606401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752099	0.87[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	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
rs4568917	ABLIM1	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:116399800-116413800	Weak transcription	Spleen	Spleen
3	chr10:116403200-116412200	Weak transcription	Brain Anterior Caudate	brain
4	chr10:116404800-116412200	Weak transcription	Lung	lung
5	chr10:116405200-116413400	Weak transcription	Colonic Mucosa	Colon
6	chr10:116406200-116412800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:116406200-116422000	Weak transcription	Fetal Lung	lung
8	chr10:116407800-116411400	Enhancers	HepG2	liver
9	chr10:116408200-116412800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:116408400-116415600	Enhancers	HUVEC	blood vessel
11	chr10:116408600-116413600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:116408600-116422000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:116408600-116441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:116408800-116413000	Weak transcription	Psoas Muscle	Psoas
15	chr10:116408800-116427400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:116409000-116411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:116409000-116414600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:116409400-116411800	Enhancers	Pancreas	Pancrea
19	chr10:116409400-116414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:116409600-116411400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:116409600-116412000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:116409600-116413400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:116409600-116414200	Weak transcription	NHEK	skin
24	chr10:116409600-116414400	Weak transcription	Placenta	Placenta
25	chr10:116409600-116414400	Weak transcription	Hela-S3	cervix
26	chr10:116409600-116421200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:116409600-116423600	Weak transcription	Esophagus	oesophagus
28	chr10:116410200-116412800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:116410200-116414400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:116410200-116414600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:116410200-116414800	Weak transcription	HSMMtube	muscle
32	chr10:116410400-116414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:116410600-116411600	Weak transcription	Adipose Nuclei	Adipose
34	chr10:116410600-116411800	Enhancers	Left Ventricle	heart
35	chr10:116410800-116411600	Weak transcription	NHDF-Ad	bronchial
36	chr10:116410800-116412200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:116410800-116412400	Weak transcription	Stomach Mucosa	stomach
38	chr10:116410800-116413800	Enhancers	Liver	Liver
39	chr10:116410800-116422000	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:116411000-116411400	Weak transcription	Fetal Heart	heart
41	chr10:116411000-116412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:116411000-116412200	Weak transcription	Ovary	ovary
43	chr10:116411000-116412600	Weak transcription	A549	lung
44	chr10:116411000-116415800	Enhancers	Right Ventricle	heart
45	chr10:116411000-116417400	Enhancers	Right Atrium	heart
46	chr10:116411200-116412200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr10:116411200-116412800	Weak transcription	Gastric	stomach
48	chr10:116411200-116413600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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