Variant report

Variant	rs1386374
Chromosome Location	chr8:100650223-100650224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1039448	0.84[ASN][1000 genomes]
rs10955213	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10955214	1.00[JPT][hapmap]
rs10955215	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11986595	0.89[ASN][1000 genomes]
rs12541387	0.99[ASN][1000 genomes]
rs12542214	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12544095	0.99[ASN][1000 genomes]
rs12544691	0.80[ASN][1000 genomes]
rs12549477	1.00[JPT][hapmap]
rs12550617	0.89[ASN][1000 genomes]
rs12676009	0.88[ASN][1000 genomes]
rs12676915	1.00[JPT][hapmap]
rs12678012	0.89[ASN][1000 genomes]
rs12681244	0.88[ASN][1000 genomes]
rs1386377	0.99[ASN][1000 genomes]
rs1388657	1.00[JPT][hapmap]
rs1487022	1.00[JPT][hapmap]
rs1545959	1.00[JPT][hapmap]
rs16897430	1.00[JPT][hapmap]
rs16897435	1.00[JPT][hapmap]
rs16897440	1.00[JPT][hapmap]
rs16897530	0.90[ASN][1000 genomes]
rs1788152	0.92[ASN][1000 genomes]
rs1788157	0.92[ASN][1000 genomes]
rs2035619	0.99[ASN][1000 genomes]
rs2084556	0.92[ASN][1000 genomes]
rs2280061	0.88[ASN][1000 genomes]
rs2510200	0.92[ASN][1000 genomes]
rs2510202	0.86[ASN][1000 genomes]
rs3099853	0.90[ASN][1000 genomes]
rs3103102	0.84[ASN][1000 genomes]
rs3103702	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3105200	0.81[ASN][1000 genomes]
rs3105202	0.81[ASN][1000 genomes]
rs3134151	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3134153	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs3134154	0.81[ASN][1000 genomes]
rs3134160	0.82[ASN][1000 genomes]
rs3134165	0.81[ASN][1000 genomes]
rs3134169	0.88[ASN][1000 genomes]
rs3134170	0.88[ASN][1000 genomes]
rs3134171	0.95[JPT][hapmap]
rs4735615	0.89[ASN][1000 genomes]
rs4735619	0.89[ASN][1000 genomes]
rs4735620	0.91[ASN][1000 genomes]
rs4735627	0.96[ASN][1000 genomes]
rs56174158	0.86[ASN][1000 genomes]
rs57636892	0.99[ASN][1000 genomes]
rs59375661	0.96[ASN][1000 genomes]
rs61097926	0.92[ASN][1000 genomes]
rs6468690	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6468691	1.00[JPT][hapmap]
rs6985574	0.99[ASN][1000 genomes]
rs6986467	1.00[JPT][hapmap]
rs7009315	1.00[JPT][hapmap]
rs717365	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs721995	0.96[ASN][1000 genomes]
rs72674642	0.87[ASN][1000 genomes]
rs72674644	0.91[ASN][1000 genomes]
rs72674651	0.87[ASN][1000 genomes]
rs72674675	0.92[ASN][1000 genomes]
rs72674676	0.85[ASN][1000 genomes]
rs72674678	0.88[ASN][1000 genomes]
rs72674698	0.99[ASN][1000 genomes]
rs72676204	0.99[ASN][1000 genomes]
rs72676222	0.93[ASN][1000 genomes]
rs7825783	0.99[ASN][1000 genomes]
rs965657	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv611813	chr8:100635915-100682615	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1850143	chr8:100650034-100692370	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:100631600-100654400	Weak transcription	Left Ventricle	heart
3	chr8:100631600-100658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
5	chr8:100632000-100654000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:100632200-100654200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:100637000-100654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:100637800-100658600	Weak transcription	Psoas Muscle	Psoas
9	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:100646000-100657200	Weak transcription	Small Intestine	intestine
12	chr8:100646200-100661800	Weak transcription	Thymus	Thymus
13	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:100646800-100674400	Weak transcription	Dnd41	blood
15	chr8:100647000-100650800	Enhancers	Fetal Intestine Large	intestine
16	chr8:100647000-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:100647000-100667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:100647000-100667800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:100647200-100651400	Enhancers	Fetal Intestine Small	intestine
20	chr8:100647200-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:100647400-100667200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:100648000-100650400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:100648200-100650400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:100648200-100651400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:100648400-100675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:100648600-100650400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:100648800-100650600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:100648800-100651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:100649200-100650800	Enhancers	HepG2	liver
30	chr8:100649600-100650400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:100650000-100654000	Weak transcription	Fetal Stomach	stomach
32	chr8:100650000-100654200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:100650000-100654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:100650000-100654400	Weak transcription	Fetal Kidney	kidney
35	chr8:100650000-100654400	Weak transcription	Spleen	Spleen
36	chr8:100650000-100654600	Weak transcription	HSMMtube	muscle
37	chr8:100650000-100657200	Weak transcription	Adipose Nuclei	Adipose
38	chr8:100650000-100657800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:100650000-100657800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:100650000-100673600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:100650000-100675200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:100650000-100680800	Weak transcription	NHDF-Ad	bronchial
43	chr8:100650000-100681000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:100650200-100650600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:100650200-100651200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:100650200-100651400	Enhancers	Fetal Heart	heart
47	chr8:100650200-100651800	Enhancers	K562	blood
48	chr8:100650200-100654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:100650200-100654000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:100650200-100654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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