Variant report

Variant	rs6441075
Chromosome Location	chr3:156241306-156241307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10936027	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs11710604	1.00[ASN][1000 genomes]
rs11718384	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13065924	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13083246	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13088140	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1607462	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17354147	1.00[JPT][hapmap]
rs2874390	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs35201541	0.95[ASN][1000 genomes]
rs35842413	0.95[ASN][1000 genomes]
rs58308618	0.97[ASN][1000 genomes]
rs58814370	0.97[ASN][1000 genomes]
rs61155568	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62285074	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285080	0.97[ASN][1000 genomes]
rs6441074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441076	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764265	0.84[CHB][hapmap]
rs6764992	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6771728	1.00[JPT][hapmap]
rs6802811	1.00[JPT][hapmap]
rs7619602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8665	1.00[JPT][hapmap]
rs875582	0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	nsv877683	chr3:156180366-156272351	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6441075	KCNAB1	Cis_1M	lymphoblastoid	RTeQTL
rs6441075	SSR3	cis	lymphoblastoid	seeQTL
rs6441075	SSR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156227600-156246000	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:156230200-156251000	Weak transcription	Left Ventricle	heart
3	chr3:156232200-156249200	Weak transcription	Gastric	stomach
4	chr3:156233400-156246600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:156234400-156244400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:156234400-156248600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:156234400-156251200	Weak transcription	Ovary	ovary
8	chr3:156234600-156241600	Weak transcription	Aorta	Aorta
9	chr3:156235200-156241400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:156235200-156243800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:156235600-156241600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:156236000-156250200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:156236200-156247600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:156236800-156242000	Weak transcription	Fetal Heart	heart
15	chr3:156236800-156251000	Weak transcription	Pancreas	Pancrea
16	chr3:156236800-156251200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:156237200-156243800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:156237200-156250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:156237600-156241800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:156238200-156251400	Weak transcription	A549	lung
21	chr3:156240000-156241800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:156240200-156241400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:156240400-156260200	Weak transcription	Esophagus	oesophagus
24	chr3:156240600-156241800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:156240600-156251800	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:156240800-156241800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:156240800-156245600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:156240800-156246200	Weak transcription	Brain Substantia Nigra	brain
29	chr3:156240800-156248000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:156241000-156242000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:156241200-156241400	Enhancers	Brain Angular Gyrus	brain
32	chr3:156241200-156241600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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