Variant report

Variant	rs681347
Chromosome Location	chr18:29896375-29896376
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29896360..29897935-chr18:29901825..29904220,2	K562	blood:
2	chr18:29895037..29897248-chr18:29897872..29900366,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10502592	0.88[CHB][hapmap]
rs11876773	0.88[CHB][hapmap]
rs1689030	0.82[CEU][hapmap]
rs16963285	0.88[CHB][hapmap]
rs1824304	0.88[CHB][hapmap];0.82[YRI][hapmap]
rs595792	0.82[CEU][hapmap]
rs598074	0.93[EUR][1000 genomes]
rs606638	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs616601	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs618004	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619154	0.82[EUR][1000 genomes]
rs625361	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs638142	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs643836	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs644274	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs656946	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs657479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668857	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs671090	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677721	0.87[CEU][hapmap];0.89[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs687850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230250	0.88[CHB][hapmap]
rs736218	0.88[CHB][hapmap];0.81[YRI][hapmap]
rs8084215	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868200-29923800	Weak transcription	Gastric	stomach
2	chr18:29880800-29897000	Weak transcription	Lung	lung
3	chr18:29883000-29897000	Weak transcription	Fetal Intestine Small	intestine
4	chr18:29883000-29897000	Weak transcription	Left Ventricle	heart
5	chr18:29883400-29896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:29889200-29896800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:29889400-29896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:29889400-29896400	Weak transcription	Aorta	Aorta
9	chr18:29889400-29904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:29890200-29898800	Weak transcription	Liver	Liver
11	chr18:29890200-29902200	Weak transcription	Spleen	Spleen
12	chr18:29890400-29897000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr18:29890400-29897000	Weak transcription	NH-A	brain
14	chr18:29890400-29904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:29890800-29896800	Weak transcription	Fetal Stomach	stomach
16	chr18:29891000-29896400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:29891000-29896800	Weak transcription	Brain Angular Gyrus	brain
18	chr18:29891000-29897400	Weak transcription	Fetal Kidney	kidney
19	chr18:29891000-29898400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:29891000-29905800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:29891000-29914000	Weak transcription	Fetal Brain Female	brain
22	chr18:29891200-29896800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:29891200-29905600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:29891800-29896400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:29892200-29896600	Weak transcription	Adipose Nuclei	Adipose
26	chr18:29892400-29897000	Weak transcription	Fetal Intestine Large	intestine
27	chr18:29892800-29896800	Weak transcription	Right Ventricle	heart
28	chr18:29893200-29896400	Weak transcription	Fetal Muscle Leg	muscle
29	chr18:29893200-29896400	Weak transcription	Ovary	ovary
30	chr18:29893200-29896800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:29893200-29896800	Weak transcription	Brain Hippocampus Middle	brain
32	chr18:29893200-29897000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr18:29893400-29897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:29893400-29897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:29893400-29903200	Weak transcription	Pancreas	Pancrea
36	chr18:29894200-29897800	Weak transcription	Small Intestine	intestine
37	chr18:29895600-29897000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:29895600-29897000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr18:29895600-29897600	Enhancers	HSMM	muscle
40	chr18:29895800-29897400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:29895800-29897800	Enhancers	Stomach Mucosa	stomach
42	chr18:29895800-29898600	Enhancers	Brain Cingulate Gyrus	brain
43	chr18:29895800-29898800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:29895800-29898800	Enhancers	Osteobl	bone
45	chr18:29896000-29896800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr18:29896000-29899200	Enhancers	Brain Substantia Nigra	brain
47	chr18:29896200-29896400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:29896200-29896800	Weak transcription	Brain Anterior Caudate	brain
49	chr18:29896200-29898400	Weak transcription	Fetal Heart	heart

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