Variant report

Variant	rs1058405
Chromosome Location	chr1:161751741-161751742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161744554..161749542-chr1:161749920..161753268,5	K562	blood:
2	chr1:161738297..161740098-chr1:161749903..161752302,2	K562	blood:
3	chr1:161748440..161753794-chr1:161754106..161757609,6	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1006310	0.85[CHD][hapmap]
rs1027700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918137	0.80[ASN][1000 genomes]
rs10918243	0.89[ASN][1000 genomes]
rs11576878	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11579627	0.82[ASW][hapmap];0.85[CEU][hapmap];0.90[GIH][hapmap];0.85[MKK][hapmap]
rs11581556	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11590304	0.89[ASN][1000 genomes]
rs12130299	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1847383	0.81[ASN][1000 genomes]
rs2257107	0.80[ASN][1000 genomes]
rs3767634	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820449	0.85[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs4657106	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657121	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56041058	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61801240	0.80[ASN][1000 genomes]
rs61802507	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6666482	0.80[ASN][1000 genomes]
rs6683830	0.80[ASN][1000 genomes]
rs7414603	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7519514	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs7529356	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs905594	0.86[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs931778	0.80[ASN][1000 genomes]

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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1058405	CD1A	cis	parietal	SCAN
rs1058405	OTUD5	trans	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161736800-161752000	Weak transcription	Lung	lung
2	chr1:161736800-161754000	Weak transcription	Colonic Mucosa	Colon
3	chr1:161736800-161757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161737000-161752000	Weak transcription	Left Ventricle	heart
5	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
6	chr1:161737200-161752200	Weak transcription	Psoas Muscle	Psoas
7	chr1:161737200-161752600	Weak transcription	Esophagus	oesophagus
8	chr1:161737200-161752800	Weak transcription	HSMMtube	muscle
9	chr1:161737200-161761600	Weak transcription	Fetal Brain Male	brain
10	chr1:161737200-161761600	Weak transcription	Right Ventricle	heart
11	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
12	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
13	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:161737400-161752200	Weak transcription	HSMM	muscle
15	chr1:161737600-161752000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:161737600-161762000	Weak transcription	Fetal Lung	lung
17	chr1:161737600-161764600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:161738000-161752400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:161738200-161752200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:161738200-161753600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:161738200-161760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:161738400-161754000	Weak transcription	Fetal Brain Female	brain
23	chr1:161738600-161752200	Weak transcription	HepG2	liver
24	chr1:161738600-161752600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:161738600-161753800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
27	chr1:161738600-161795600	Weak transcription	Gastric	stomach
28	chr1:161739400-161752600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:161739400-161753800	Weak transcription	NH-A	brain
30	chr1:161739400-161753800	Weak transcription	NHEK	skin
31	chr1:161740400-161761800	Weak transcription	Ovary	ovary
32	chr1:161741600-161752000	Weak transcription	Brain Anterior Caudate	brain
33	chr1:161741800-161752600	Weak transcription	Spleen	Spleen
34	chr1:161742000-161752200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:161742000-161754000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:161742400-161752000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:161742400-161752800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:161742400-161773000	Weak transcription	Small Intestine	intestine
39	chr1:161743600-161751800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:161744200-161752000	Weak transcription	Adipose Nuclei	Adipose
41	chr1:161744600-161752400	Weak transcription	Dnd41	blood
42	chr1:161744800-161752000	Weak transcription	K562	blood
43	chr1:161744800-161752400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:161744800-161753800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:161745000-161752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:161745200-161751800	Weak transcription	Brain Angular Gyrus	brain
47	chr1:161745200-161753600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:161745400-161780000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:161746200-161752000	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:161746800-161752600	Weak transcription	Fetal Muscle Leg	muscle

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