Variant report

Variant	rs6786320
Chromosome Location	chr3:142111273-142111274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10935460	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10935462	0.85[ASN][1000 genomes]
rs11916455	0.89[CHB][hapmap]
rs12632726	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12695757	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13060437	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13061409	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13065140	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13067197	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13070239	0.89[CHB][hapmap]
rs13080394	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13082648	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13085261	0.89[CHB][hapmap]
rs13087972	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13099184	0.89[CHB][hapmap]
rs1485393	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306699	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762799	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4256152	0.94[CHB][hapmap]
rs4582075	0.89[CHB][hapmap]
rs62276415	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623785	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7643377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7647329	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs953135	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9814159	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9829125	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9836038	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9859834	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9867210	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv877557	chr3:142090402-142150204	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142046400-142112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:142057400-142111400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:142059400-142111400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:142064600-142111400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr3:142066800-142115000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:142072400-142114600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:142074000-142113800	Weak transcription	HMEC	breast
8	chr3:142076000-142136400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:142076800-142120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:142080000-142114000	Weak transcription	NHLF	lung
12	chr3:142083200-142113800	Weak transcription	Small Intestine	intestine
13	chr3:142083200-142114200	Weak transcription	A549	lung
14	chr3:142083400-142114800	Weak transcription	HepG2	liver
15	chr3:142083600-142158600	Weak transcription	NHEK	skin
16	chr3:142086200-142111400	Strong transcription	Fetal Thymus	thymus
17	chr3:142094000-142114000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:142094400-142111400	Strong transcription	Liver	Liver
19	chr3:142096600-142113800	Weak transcription	HUVEC	blood vessel
20	chr3:142097000-142112600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:142098000-142111400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr3:142098600-142111400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:142099800-142112600	Weak transcription	Pancreas	Pancrea
24	chr3:142104400-142113000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:142105400-142111400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:142105400-142111400	Strong transcription	Primary B cells from cord blood	blood
28	chr3:142105600-142111400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:142105600-142111400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr3:142105600-142111400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:142105600-142116600	Strong transcription	Adipose Nuclei	Adipose
32	chr3:142105600-142123000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:142105800-142111400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:142105800-142111400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:142105800-142111400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:142105800-142112800	Weak transcription	NH-A	brain
37	chr3:142105800-142136600	Strong transcription	Fetal Intestine Large	intestine
38	chr3:142106400-142111400	Strong transcription	Fetal Lung	lung
39	chr3:142106600-142113200	Weak transcription	Hela-S3	cervix
40	chr3:142106800-142113800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:142106800-142114000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:142106800-142123000	Weak transcription	Fetal Brain Male	brain
43	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:142107000-142112400	Weak transcription	Colonic Mucosa	Colon
45	chr3:142107000-142112600	Weak transcription	Esophagus	oesophagus
46	chr3:142107600-142111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:142108000-142112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:142108000-142114000	Weak transcription	Gastric	stomach
49	chr3:142108600-142111400	Strong transcription	Brain Anterior Caudate	brain
50	chr3:142108600-142112400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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