Variant report

Variant	rs259688
Chromosome Location	chr6:37893469-37893470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37891025..37896259-chr6:37902592..37905775,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11756656	0.84[ASN][1000 genomes]
rs1212636	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs174105	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs187741	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1979759	0.93[ASN][1000 genomes]
rs2055205	0.93[ASN][1000 genomes]
rs2180514	0.85[ASN][1000 genomes]
rs2201646	0.81[ASN][1000 genomes]
rs259672	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259674	0.89[ASN][1000 genomes]
rs259675	0.93[ASN][1000 genomes]
rs259676	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259677	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259678	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259682	0.92[ASN][1000 genomes]
rs259683	0.92[ASN][1000 genomes]
rs259685	0.92[ASN][1000 genomes]
rs259687	0.93[ASN][1000 genomes]
rs259693	0.93[ASN][1000 genomes]
rs259694	0.93[ASN][1000 genomes]
rs259721	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs259722	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3792706	0.83[ASN][1000 genomes]
rs4711522	0.86[ASN][1000 genomes]
rs4711524	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714118	0.84[ASN][1000 genomes]
rs6458036	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67479083	0.86[ASN][1000 genomes]
rs6912097	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6915506	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6917668	0.92[ASN][1000 genomes]
rs6920185	0.83[ASN][1000 genomes]
rs6934617	0.85[ASN][1000 genomes]
rs7765798	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9369029	0.81[ASN][1000 genomes]
rs9394469	0.83[ASN][1000 genomes]
rs9394471	0.82[ASN][1000 genomes]
rs9462374	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470723	0.85[ASN][1000 genomes]
rs9470724	0.85[ASN][1000 genomes]
rs9470725	0.83[ASN][1000 genomes]
rs9647620	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	nsv970036	chr6:37876765-37894762	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
2	chr6:37872600-37896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37876600-37903200	Weak transcription	Dnd41	blood
6	chr6:37878800-37900400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:37880000-37896600	Weak transcription	Right Ventricle	heart
8	chr6:37880000-37898000	Weak transcription	Fetal Thymus	thymus
9	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
10	chr6:37881400-37895000	Weak transcription	Left Ventricle	heart
11	chr6:37881400-37896000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:37884600-37904800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:37884800-37895400	Weak transcription	Adipose Nuclei	Adipose
14	chr6:37884800-37898200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:37885200-37906200	Weak transcription	HSMM	muscle
17	chr6:37885600-37896800	Weak transcription	Fetal Brain Male	brain
18	chr6:37886400-37896400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:37886600-37896600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
21	chr6:37887800-37896400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:37887800-37906200	Weak transcription	HSMMtube	muscle
23	chr6:37887800-37906600	Weak transcription	NH-A	brain
24	chr6:37888600-37893800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:37888600-37893800	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:37888600-37903600	Weak transcription	Osteobl	bone
27	chr6:37888800-37893800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:37888800-37893800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:37888800-37893800	Weak transcription	Psoas Muscle	Psoas
30	chr6:37888800-37893800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:37888800-37895200	Weak transcription	Right Atrium	heart
32	chr6:37888800-37895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:37888800-37895800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:37888800-37898000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:37888800-37898600	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:37888800-37903800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:37889000-37893600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:37889000-37893600	Weak transcription	Liver	Liver
39	chr6:37889000-37894400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:37889000-37896400	Weak transcription	Brain Anterior Caudate	brain
41	chr6:37889000-37897000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:37889000-37897000	Weak transcription	A549	lung
43	chr6:37889000-37898000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:37889000-37898200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:37889000-37906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:37889200-37893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:37889200-37893600	Weak transcription	HepG2	liver
48	chr6:37889200-37893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:37889200-37894000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:37889200-37894200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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