Variant report

Variant	rs2494708
Chromosome Location	chr6:26645100-26645101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26640152..26642957-chr6:26643497..26647003,3	K562	blood:
2	chr6:26643127..26645242-chr6:26653375..26655691,2	K562	blood:
3	chr6:26620860..26623153-chr6:26644109..26645791,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2451714	0.83[ASN][1000 genomes]
rs2451717	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2451746	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2451752	0.81[ASN][1000 genomes]
rs2451753	0.81[ASN][1000 genomes]
rs2494705	0.81[ASN][1000 genomes]
rs2494706	0.81[ASN][1000 genomes]
rs2494710	0.81[ASN][1000 genomes]
rs2494711	0.81[ASN][1000 genomes]
rs2498342	0.82[ASN][1000 genomes]
rs2498343	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6456738	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6902411	0.81[ASN][1000 genomes]
rs9379892	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2494708	RP11-457M11.5	cis	Artery Tibial	GTEx
rs2494708	RP11-457M11.5	cis	Thyroid	GTEx
rs2494708	RP11-457M11.5	cis	Skin Sun Exposed Lower leg	GTEx
rs2494708	RP11-457M11.5	cis	Esophagus Mucosa	GTEx
rs2494708	RP11-457M11.5	cis	lung	GTEx
rs2494708	RP11-457M11.5	cis	Esophagus Muscularis	GTEx
rs2494708	RP11-457M11.5	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26633000-26658000	Weak transcription	Fetal Brain Male	brain
2	chr6:26636400-26645800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:26636800-26645800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr6:26637600-26645800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:26638000-26645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:26638400-26646800	ZNF genes & repeats	Liver	Liver
7	chr6:26638800-26645400	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr6:26638800-26645600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:26638800-26646600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:26638800-26646800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:26638800-26646800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:26639000-26645200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
13	chr6:26639000-26645600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr6:26639000-26645600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:26639000-26645800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr6:26639000-26646600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:26639000-26651800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:26639200-26645600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:26640000-26646200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:26641000-26645600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr6:26641400-26659000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:26641400-26659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:26641800-26650400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:26642200-26645800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr6:26642600-26645200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:26642600-26645600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr6:26642600-26645800	ZNF genes & repeats	A549	lung
28	chr6:26642800-26645600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr6:26642800-26645800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:26643200-26645400	Weak transcription	Colonic Mucosa	Colon
31	chr6:26643200-26645600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:26643400-26652000	Weak transcription	Fetal Stomach	stomach
33	chr6:26643400-26652600	Weak transcription	Ovary	ovary
34	chr6:26643400-26657600	Weak transcription	Right Ventricle	heart
35	chr6:26643400-26658800	Weak transcription	Pancreas	Pancrea
36	chr6:26643400-26659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:26643400-26659000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:26643400-26659000	Weak transcription	Aorta	Aorta
39	chr6:26643400-26659000	Weak transcription	Lung	lung
40	chr6:26643400-26659400	Weak transcription	Esophagus	oesophagus
41	chr6:26643400-26659400	Weak transcription	Gastric	stomach
42	chr6:26643600-26645600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:26643600-26654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:26643600-26655600	Weak transcription	Left Ventricle	heart
45	chr6:26643600-26657600	Weak transcription	Psoas Muscle	Psoas
46	chr6:26643600-26658000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:26643600-26658200	Weak transcription	Brain Germinal Matrix	brain
48	chr6:26643800-26648600	Weak transcription	Fetal Lung	lung
49	chr6:26643800-26650200	Weak transcription	Fetal Brain Female	brain
50	chr6:26643800-26650400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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