Variant report

Variant	rs10497345
Chromosome Location	chr2:169734801-169734802
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	chr2:169733481..169736243-chr2:169763377..169765605,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497348	0.97[EUR][1000 genomes]
rs34073293	0.97[EUR][1000 genomes]
rs58191289	0.97[EUR][1000 genomes]
rs59686285	0.95[EUR][1000 genomes]
rs62175726	0.95[EUR][1000 genomes]
rs62176769	0.97[EUR][1000 genomes]
rs62176770	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62176780	0.92[EUR][1000 genomes]
rs62176781	1.00[EUR][1000 genomes]
rs62176783	0.97[EUR][1000 genomes]
rs62176786	0.97[EUR][1000 genomes]
rs6739749	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6739984	0.97[EUR][1000 genomes]
rs73014610	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:169716000-169745800	Weak transcription	HSMM	muscle
4	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:169722000-169736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:169722000-169741200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:169722000-169741400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:169722000-169741400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:169722000-169741400	Weak transcription	NHEK	skin
10	chr2:169722000-169741800	Weak transcription	Fetal Lung	lung
11	chr2:169722000-169742800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:169722000-169744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
14	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
15	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:169722200-169741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:169728600-169741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:169729000-169736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:169729600-169741600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:169729600-169745800	Weak transcription	Thymus	Thymus
24	chr2:169730000-169736400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:169730000-169741400	Weak transcription	HMEC	breast
26	chr2:169730200-169740800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:169730200-169743200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:169730200-169745800	Weak transcription	HUVEC	blood vessel
29	chr2:169730400-169740600	Weak transcription	HepG2	liver
30	chr2:169730400-169741000	Weak transcription	A549	lung
31	chr2:169731200-169740000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:169731600-169746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:169731800-169736200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:169731800-169741400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:169731800-169741600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:169731800-169746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:169732000-169745800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:169732200-169738800	Weak transcription	Fetal Thymus	thymus
39	chr2:169732200-169740000	Weak transcription	Dnd41	blood
40	chr2:169733800-169737600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:169733800-169740600	Weak transcription	K562	blood
42	chr2:169733800-169741000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:169733800-169741400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:169733800-169741600	Weak transcription	NHDF-Ad	bronchial
45	chr2:169733800-169745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:169734000-169736200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:169734000-169736400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:169734000-169737000	Weak transcription	Fetal Heart	heart
49	chr2:169734000-169737600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:169734000-169740000	Weak transcription	Monocytes-CD14+_RO01746	blood

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