Variant report

Variant	rs1458861
Chromosome Location	chr18:29954227-29954228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29952322..29955283-chr18:29962192..29964133,2	K562	blood:
2	chr18:29915109..29917928-chr18:29952038..29954321,2	MCF-7	breast:
3	chr18:29952934..29954642-chr18:29963321..29966112,2	MCF-7	breast:
4	chr18:29950469..29955579-chr18:30048383..30051595,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141441	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10502588	0.81[YRI][hapmap]
rs10502589	0.86[ASW][hapmap];0.90[MKK][hapmap]
rs10502593	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10502597	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11081761	0.85[YRI][hapmap]
rs11661378	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11663076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664951	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11665147	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs11665150	0.86[YRI][hapmap]
rs11665190	0.85[YRI][hapmap]
rs11873828	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11877846	0.81[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11877881	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs13381344	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs16963169	0.86[ASW][hapmap];0.90[MKK][hapmap];0.81[YRI][hapmap]
rs16963184	0.84[JPT][hapmap]
rs16963270	0.82[AFR][1000 genomes]
rs16963289	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs17743799	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs17743907	0.82[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17805881	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs17805905	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs17805953	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs17811420	0.83[JPT][hapmap]
rs17811474	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2034968	0.84[CHD][hapmap];0.81[JPT][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs35779665	0.83[TSI][hapmap]
rs41527551	0.84[CHD][hapmap];0.81[JPT][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs41535045	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs56945883	0.81[AFR][1000 genomes]
rs7228337	0.81[YRI][hapmap]
rs7237501	0.81[YRI][hapmap]
rs7240587	0.81[MKK][hapmap];0.81[YRI][hapmap]
rs7240755	0.81[YRI][hapmap]
rs73958407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8097263	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs968099	0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
3	chr18:29947200-29957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:29950000-29966200	Weak transcription	Fetal Brain Female	brain
5	chr18:29950800-29956200	Enhancers	Stomach Mucosa	stomach
6	chr18:29951000-29954400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr18:29951000-29954600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:29951000-29955400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr18:29951000-29956000	Enhancers	Fetal Heart	heart
10	chr18:29951000-29956200	Enhancers	Duodenum Mucosa	Duodenum
11	chr18:29951200-29959200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr18:29951400-29954600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:29951400-29954600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:29951400-29954600	Enhancers	Adipose Nuclei	Adipose
15	chr18:29951400-29954600	Enhancers	Fetal Intestine Small	intestine
16	chr18:29951400-29954600	Enhancers	HMEC	breast
17	chr18:29951600-29954600	Enhancers	Brain Hippocampus Middle	brain
18	chr18:29951600-29954600	Enhancers	Brain Substantia Nigra	brain
19	chr18:29951800-29954600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:29951800-29955200	Weak transcription	Psoas Muscle	Psoas
21	chr18:29951800-29961800	Weak transcription	Esophagus	oesophagus
22	chr18:29952000-29954400	Enhancers	Stomach Smooth Muscle	stomach
23	chr18:29952000-29954600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr18:29952400-29954400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:29952400-29954400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr18:29952400-29954600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr18:29952400-29954600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr18:29952400-29954800	Enhancers	Liver	Liver
29	chr18:29952600-29954400	Enhancers	A549	lung
30	chr18:29952800-29954400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:29952800-29954400	Enhancers	Pancreas	Pancrea
32	chr18:29952800-29957200	Weak transcription	Right Ventricle	heart
33	chr18:29952800-29958200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:29952800-29963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:29952800-29964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:29952800-29973200	Weak transcription	Fetal Stomach	stomach
37	chr18:29953000-29954600	Enhancers	HepG2	liver
38	chr18:29953000-29954600	Enhancers	NHEK	skin
39	chr18:29953000-29958800	Weak transcription	Right Atrium	heart
40	chr18:29953000-29966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr18:29953200-29954400	Enhancers	Placenta	Placenta
42	chr18:29953400-29954600	Enhancers	Colonic Mucosa	Colon
43	chr18:29953400-29966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:29953600-29954400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr18:29953600-29954400	Enhancers	Brain Anterior Caudate	brain
46	chr18:29953600-29954600	Enhancers	Brain Angular Gyrus	brain
47	chr18:29953600-29954600	Enhancers	Colon Smooth Muscle	Colon
48	chr18:29953600-29954800	Enhancers	Brain Cingulate Gyrus	brain
49	chr18:29953600-29954800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr18:29953600-29958800	Weak transcription	Left Ventricle	heart

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