Variant report

Variant	rs6057191
Chromosome Location	chr20:29642527-29642528
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34988612	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6057406	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6087167	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6087264	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6118923	0.85[ASN][1000 genomes]
rs6119084	0.83[AFR][1000 genomes]
rs6119089	0.82[AFR][1000 genomes]
rs6119118	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6141218	0.86[ASN][1000 genomes]
rs8117830	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758518	chr20:29419570-29653908	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2758791	chr20:29419570-29653908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428028	chr20:29419570-29653908	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv428376	chr20:29419570-29653908	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1058387	chr20:29479828-29651199	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1067193	chr20:29525410-29651199	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv11674	chr20:29528011-29653880	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv965870	chr20:29570138-29652376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv15335	chr20:29580700-29653880	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv585870	chr20:29603773-29648195	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv585871	chr20:29612406-29648195	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv585872	chr20:29612406-29648263	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv585873	chr20:29616742-29651821	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv821487	chr20:29629343-29652652	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv828711	chr20:29629343-29652652	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv585874	chr20:29633277-29651821	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv436321	chr20:29638637-29645554	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29641200-29643000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29642000-29642600	Weak transcription	Brain Angular Gyrus	brain
3	chr20:29642000-29645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr20:29642000-29645400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr20:29642000-29645400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:29642000-29645400	Weak transcription	Brain Substantia Nigra	brain
7	chr20:29642000-29645400	Weak transcription	Fetal Heart	heart
8	chr20:29642000-29645400	Weak transcription	Fetal Kidney	kidney
9	chr20:29642000-29645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:29642000-29645600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr20:29642200-29642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr20:29642200-29642600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr20:29642200-29642800	Weak transcription	Colonic Mucosa	Colon
14	chr20:29642200-29642800	Weak transcription	Lung	lung
15	chr20:29642200-29642800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr20:29642200-29643000	Weak transcription	Ovary	ovary
17	chr20:29642200-29645400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr20:29642200-29645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:29642200-29645400	Weak transcription	Primary T cells from cord blood	blood
20	chr20:29642200-29645400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr20:29642200-29645400	Weak transcription	Adipose Nuclei	Adipose
22	chr20:29642200-29645400	Weak transcription	Liver	Liver
23	chr20:29642200-29645400	Weak transcription	Brain Hippocampus Middle	brain
24	chr20:29642200-29645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:29642200-29645400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr20:29642200-29645400	Weak transcription	Fetal Brain Male	brain
27	chr20:29642200-29645400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr20:29642200-29645400	Weak transcription	Right Ventricle	heart
29	chr20:29642200-29645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr20:29642200-29645400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr20:29642200-29645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:29642200-29645600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:29642200-29645600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr20:29642200-29645600	Weak transcription	Primary B cells from cord blood	blood
35	chr20:29642200-29645600	Weak transcription	Left Ventricle	heart
36	chr20:29642200-29645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:29642200-29645800	Weak transcription	Aorta	Aorta
38	chr20:29642200-29645800	Weak transcription	Pancreas	Pancrea
39	chr20:29642400-29642600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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