Variant report

Variant	rs16843385
Chromosome Location	chr1:171785831-171785832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171785613..171787627-chr1:171789053..171791436,2	K562	blood:
2	chr1:171785258..171787192-chr1:171953083..171954912,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10489253	0.81[YRI][hapmap]
rs10798636	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs10798667	0.98[ASN][1000 genomes]
rs10913644	0.84[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11587288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11590059	0.83[AFR][1000 genomes]
rs11803889	0.92[YRI][hapmap]
rs12022693	0.83[AFR][1000 genomes]
rs12034454	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039034	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12566700	0.87[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs17597528	0.83[AFR][1000 genomes]
rs2206541	0.81[YRI][hapmap]
rs2232812	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2232816	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232818	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232826	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2294717	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753538	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56178029	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57476157	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59302445	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60502293	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60956160	0.82[EUR][1000 genomes]
rs6425423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425428	0.83[AFR][1000 genomes]
rs6425438	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6425439	0.97[ASN][1000 genomes]
rs6684594	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6691222	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6695502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6700184	0.84[YRI][hapmap]
rs72703115	0.98[ASN][1000 genomes]
rs7537770	0.83[YRI][hapmap]
rs7541192	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7543608	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7548462	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556602	0.86[YRI][hapmap]
rs7860	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs909958	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs941942	0.84[CEU][hapmap];0.81[EUR][1000 genomes]

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16843385	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171770200-171794600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:171773000-171796000	Weak transcription	Pancreas	Pancrea
3	chr1:171775000-171787000	Weak transcription	Left Ventricle	heart
4	chr1:171777800-171786200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:171777800-171786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:171777800-171786400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:171783200-171786800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:171783400-171786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:171784000-171786400	Weak transcription	NHLF	lung
10	chr1:171784200-171786400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:171784200-171786600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:171784400-171786200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:171784400-171786200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:171784400-171786200	Weak transcription	NHDF-Ad	bronchial
15	chr1:171784400-171786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:171784400-171786400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:171784400-171786400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:171784400-171786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:171784400-171786600	Weak transcription	Osteobl	bone
20	chr1:171784600-171786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:171784600-171786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:171784600-171786400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:171784600-171786400	Weak transcription	HSMMtube	muscle
24	chr1:171784600-171786600	Weak transcription	HSMM	muscle
25	chr1:171784600-171787200	Weak transcription	Brain Angular Gyrus	brain
26	chr1:171784800-171786600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:171785200-171787000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:171785400-171786200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:171785400-171787200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:171785400-171787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:171785600-171786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:171785800-171786000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:171785800-171787600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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