Variant report

Variant	rs10947713
Chromosome Location	chr6:38093270-38093271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10456097	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10947712	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190306	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194823	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200258	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12204352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12206712	0.89[CHB][hapmap]
rs12212723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213151	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214375	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1569657	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16890344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055206	0.84[CEU][hapmap]
rs2281266	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259686	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645113	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2645116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645117	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs2645124	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs2645127	0.87[AFR][1000 genomes]
rs2645131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645137	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2842500	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2842517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2842529	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34952988	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35257826	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56098839	0.83[AFR][1000 genomes]
rs56140804	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62397001	0.82[EUR][1000 genomes]
rs735117	0.89[CHB][hapmap]
rs7747130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909998	0.89[CHB][hapmap]
rs941850	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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:106 , 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	chr6:38057200-38109200	Weak transcription	K562	blood
3	chr6:38060000-38099400	Weak transcription	Right Ventricle	heart
4	chr6:38060000-38108200	Weak transcription	Ovary	ovary
5	chr6:38063800-38099000	Weak transcription	NH-A	brain
6	chr6:38072200-38108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:38075200-38118200	Weak transcription	Colonic Mucosa	Colon
8	chr6:38075400-38103800	Weak transcription	Pancreas	Pancrea
9	chr6:38076600-38104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:38078800-38099000	Weak transcription	NHDF-Ad	bronchial
11	chr6:38078800-38109000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:38078800-38111000	Weak transcription	Fetal Kidney	kidney
13	chr6:38078800-38111000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:38079600-38113800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:38080400-38104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
17	chr6:38082600-38094400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:38083200-38095800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:38083600-38094000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr6:38083800-38103800	Weak transcription	Esophagus	oesophagus
21	chr6:38084000-38122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:38084200-38095200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
24	chr6:38085400-38093800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:38085800-38099400	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:38086200-38093400	Weak transcription	A549	lung
27	chr6:38086400-38099200	Weak transcription	NHLF	lung
28	chr6:38086600-38102400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:38087000-38095800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:38087200-38101600	Weak transcription	Brain Angular Gyrus	brain
31	chr6:38087400-38093800	Strong transcription	Fetal Muscle Leg	muscle
32	chr6:38087600-38099400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:38087600-38100400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:38087600-38101800	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:38087600-38103800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:38087600-38104800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:38087600-38118800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:38087800-38104600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:38088000-38094000	Weak transcription	Fetal Brain Female	brain
40	chr6:38088000-38095000	Weak transcription	Fetal Brain Male	brain
41	chr6:38088000-38095400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:38088000-38096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:38088000-38102200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:38088000-38104800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:38088200-38099000	Weak transcription	Osteobl	bone
46	chr6:38088600-38099200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:38089200-38099000	Weak transcription	HSMMtube	muscle
48	chr6:38089200-38100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:38089200-38103800	Weak transcription	Gastric	stomach
50	chr6:38089600-38106200	Weak transcription	Placenta	Placenta

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