Variant report

Variant	rs62176770
Chromosome Location	chr2:169721640-169721641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169712682..169714336-chr2:169721625..169723147,2	K562	blood:
2	chr2:169712836..169714967-chr2:169721509..169723147,2	K562	blood:

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

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

rs_ID	r²[population]
rs10497345	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10497348	1.00[EUR][1000 genomes]
rs34073293	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58191289	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59686285	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62175726	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62176769	1.00[EUR][1000 genomes]
rs62176780	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62176781	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62176783	1.00[EUR][1000 genomes]
rs62176786	1.00[EUR][1000 genomes]
rs6739749	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739984	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73014610	0.83[AMR][1000 genomes];1.00[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
6	chr2:169706600-169727800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:169707400-169722000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr2:169708600-169723200	Weak transcription	NHLF	lung
9	chr2:169709800-169733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:169712600-169727800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:169713200-169728800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:169713400-169722000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:169713400-169731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:169713600-169722000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:169714000-169732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:169714200-169722000	Strong transcription	Dnd41	blood
17	chr2:169714400-169722200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:169715400-169731600	Weak transcription	Small Intestine	intestine
19	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:169716000-169722000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:169716000-169745800	Weak transcription	HSMM	muscle
22	chr2:169717000-169722200	Strong transcription	Fetal Thymus	thymus
23	chr2:169717000-169727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
25	chr2:169717600-169722000	Strong transcription	Thymus	Thymus
26	chr2:169718400-169721800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:169718600-169722000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:169719000-169722000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:169719200-169723600	Weak transcription	Ovary	ovary
30	chr2:169719600-169722200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:169719800-169733600	Weak transcription	NHDF-Ad	bronchial
32	chr2:169720000-169724800	Weak transcription	Osteobl	bone
33	chr2:169720200-169722000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:169720200-169723000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:169720400-169722000	Strong transcription	Placenta	Placenta
36	chr2:169720400-169722000	ZNF genes & repeats	Lung	lung
37	chr2:169720600-169722000	Strong transcription	Fetal Stomach	stomach
38	chr2:169721000-169721800	Strong transcription	Colonic Mucosa	Colon
39	chr2:169721000-169722000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:169721000-169722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:169721000-169722000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:169721000-169722000	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr2:169721000-169722000	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:169721200-169721800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:169721200-169721800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr2:169721200-169722000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:169721200-169722000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr2:169721200-169722000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:169721200-169722000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:169721200-169722000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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