Variant report

Variant	rs13196716
Chromosome Location	chr6:38086400-38086401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10456458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12194275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12206414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12214320	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12661200	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967149	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2201645	0.83[EUR][1000 genomes]
rs2295791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645117	0.81[CHB][hapmap]
rs2645124	0.80[CEU][hapmap]
rs2842505	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4541739	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4711523	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs4714117	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4714120	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6458041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925864	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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
6	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:38053000-38090400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:38057200-38109200	Weak transcription	K562	blood
4	chr6:38059800-38091600	Weak transcription	Spleen	Spleen
5	chr6:38060000-38092000	Weak transcription	Aorta	Aorta
6	chr6:38060000-38099400	Weak transcription	Right Ventricle	heart
7	chr6:38060000-38108200	Weak transcription	Ovary	ovary
8	chr6:38063800-38099000	Weak transcription	NH-A	brain
9	chr6:38071800-38091400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:38072200-38108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:38075200-38092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:38075200-38118200	Weak transcription	Colonic Mucosa	Colon
13	chr6:38075400-38103800	Weak transcription	Pancreas	Pancrea
14	chr6:38076400-38091400	Strong transcription	Primary B cells from cord blood	blood
15	chr6:38076600-38104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:38078800-38086400	Weak transcription	Brain Substantia Nigra	brain
17	chr6:38078800-38086600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:38078800-38087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:38078800-38099000	Weak transcription	NHDF-Ad	bronchial
20	chr6:38078800-38109000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:38078800-38111000	Weak transcription	Fetal Kidney	kidney
22	chr6:38078800-38111000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:38079600-38113800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:38079800-38088600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:38080400-38086600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:38080400-38104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:38081400-38087000	Weak transcription	Fetal Brain Female	brain
28	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
29	chr6:38082200-38086400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:38082400-38086800	Weak transcription	Brain Germinal Matrix	brain
31	chr6:38082400-38087200	Weak transcription	Fetal Brain Male	brain
32	chr6:38082600-38094400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:38082800-38087600	Weak transcription	HSMMtube	muscle
34	chr6:38082800-38091600	Strong transcription	Primary T cells from cord blood	blood
35	chr6:38083200-38088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:38083200-38095800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:38083400-38087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:38083400-38091600	Weak transcription	Small Intestine	intestine
39	chr6:38083600-38086800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:38083600-38091400	Strong transcription	HepG2	liver
41	chr6:38083600-38092600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:38083600-38094000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:38083800-38087400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr6:38083800-38091600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:38083800-38092000	Strong transcription	Fetal Thymus	thymus
46	chr6:38083800-38103800	Weak transcription	Esophagus	oesophagus
47	chr6:38084000-38086400	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:38084000-38086600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:38084000-38086600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr6:38084000-38086600	Strong transcription	Stomach Smooth Muscle	stomach

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