Variant report

Variant	rs2951939
Chromosome Location	chr6:76087183-76087184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76086882..76088645-chr6:76090320..76093315,3	K562	blood:
2	chr6:76086882..76089051-chr6:76090320..76093315,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10943241	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs13220419	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs2207600	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs2703668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703708	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2703711	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703715	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703716	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2748253	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs2808188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808190	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808199	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2808208	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842452	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842461	0.83[CEU][hapmap]
rs2951934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2951937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2951946	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2951947	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2951949	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2951952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2998371	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3935857	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4131550	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4273651	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4283851	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4295446	0.89[EUR][1000 genomes]
rs4324739	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4361582	0.84[EUR][1000 genomes]
rs4380723	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4498313	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4535511	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4541712	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs4568415	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4588651	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4708178	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4708181	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs502900	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs6453825	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6902022	0.83[EUR][1000 genomes]
rs6913979	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6921940	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6933680	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7451911	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7740648	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7753528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7766441	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7772989	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs9341514	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9343281	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs9352203	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9352204	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352205	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352206	0.89[ASN][1000 genomes]
rs9352207	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9443168	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9443171	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9689477	0.92[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
9	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76084000-76087400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:76084400-76087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:76084400-76088200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:76084400-76088200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:76084400-76088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:76084400-76088400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:76084400-76088400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:76084400-76088400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:76084400-76088400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:76084600-76088200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:76084600-76088600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:76084600-76088600	Enhancers	Fetal Heart	heart
13	chr6:76085000-76087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:76085200-76091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:76085200-76092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:76085400-76087600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:76085400-76088400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:76085400-76089200	Weak transcription	Left Ventricle	heart
19	chr6:76085800-76087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:76086000-76087400	Enhancers	NHDF-Ad	bronchial
21	chr6:76086000-76088200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:76086000-76088600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:76086200-76091800	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:76086200-76091800	Weak transcription	NHLF	lung
25	chr6:76086400-76088200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:76086400-76091600	Weak transcription	Fetal Lung	lung
27	chr6:76086600-76087200	Weak transcription	Aorta	Aorta
28	chr6:76086600-76087200	Weak transcription	Psoas Muscle	Psoas
29	chr6:76086600-76087400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:76086600-76087600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:76086600-76088000	Weak transcription	Placenta	Placenta
32	chr6:76086600-76088000	Weak transcription	Right Ventricle	heart
33	chr6:76086600-76088400	Enhancers	A549	lung
34	chr6:76086600-76089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:76086600-76091800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:76086800-76091600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:76086800-76092000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:76087000-76087200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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