Variant report

Variant	rs1334596
Chromosome Location	chr10:96173304-96173305
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	chr10:96171854..96174293-chr10:96175248..96177141,2	K562	blood:
2	chr10:96168251..96170600-chr10:96172199..96174103,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1047625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs10509673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1065026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs10882479	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187919	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187921	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187999	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814451	0.84[EUR][1000 genomes]
rs11817642	0.86[EUR][1000 genomes]
rs12246393	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12248434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12260063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262606	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263131	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12268719	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12269412	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12785061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785155	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438706	0.85[MEX][hapmap]
rs35891778	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904979	1.00[ASN][1000 genomes]
rs7911131	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv1815355	chr10:96162545-96189900	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv1817623	chr10:96162545-96189900	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1334596	BLNK	cis	cerebellum	SCAN
rs1334596	DNTT	cis	cerebellum	SCAN
rs1334596	NOC3L	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96163800-96184400	Weak transcription	Gastric	stomach
2	chr10:96164600-96180000	Weak transcription	Fetal Intestine Small	intestine
3	chr10:96164800-96182400	Weak transcription	Lung	lung
4	chr10:96164800-96188200	Weak transcription	Right Atrium	heart
5	chr10:96165400-96175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:96165600-96180600	Weak transcription	Left Ventricle	heart
7	chr10:96167800-96175800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:96169400-96173400	Enhancers	Brain Anterior Caudate	brain
9	chr10:96169400-96179200	Weak transcription	Pancreas	Pancrea
10	chr10:96169400-96183800	Weak transcription	HSMM	muscle
11	chr10:96169800-96173400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:96170400-96175800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:96171000-96173800	Enhancers	Brain Hippocampus Middle	brain
14	chr10:96171200-96173800	Enhancers	Fetal Lung	lung
15	chr10:96171400-96173400	Enhancers	Fetal Stomach	stomach
16	chr10:96171400-96173400	Enhancers	Osteobl	bone
17	chr10:96171400-96174200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:96171600-96173400	Enhancers	NHDF-Ad	bronchial
19	chr10:96171600-96174800	Enhancers	Brain Cingulate Gyrus	brain
20	chr10:96171600-96188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:96171800-96183200	Weak transcription	Psoas Muscle	Psoas
22	chr10:96171800-96198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:96172000-96173400	Enhancers	Adipose Nuclei	Adipose
24	chr10:96172400-96173400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:96172400-96173400	Enhancers	HSMMtube	muscle
26	chr10:96172600-96173400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:96172600-96173400	Enhancers	Rectal Smooth Muscle	rectum
28	chr10:96172600-96173400	Enhancers	Stomach Mucosa	stomach
29	chr10:96172600-96173600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr10:96172600-96174200	Enhancers	Brain Substantia Nigra	brain
31	chr10:96172600-96176800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr10:96172800-96173400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:96172800-96173400	Enhancers	Colon Smooth Muscle	Colon
34	chr10:96172800-96173400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr10:96172800-96173800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:96172800-96175800	Weak transcription	Fetal Kidney	kidney
37	chr10:96173000-96173400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:96173000-96173400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:96173000-96173400	Enhancers	Brain Angular Gyrus	brain
40	chr10:96173000-96173600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:96173200-96173400	Enhancers	Primary hematopoietic stem cells	blood
42	chr10:96173200-96173400	Enhancers	Ovary	ovary
43	chr10:96173200-96173400	Enhancers	Skeletal Muscle Female	skeletal muscle

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