Variant report

Variant	rs72625241
Chromosome Location	chr2:174100168-174100169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169914	0.81[ASN][1000 genomes]
rs16861406	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16861417	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3739103	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3754737	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754738	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769150	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769151	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769152	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769154	0.84[ASN][1000 genomes]
rs3820831	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3820832	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs41268713	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72625242	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174083400-174100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
4	chr2:174083600-174103400	Weak transcription	NHLF	lung
5	chr2:174083800-174119200	Weak transcription	HMEC	breast
6	chr2:174086200-174101600	Weak transcription	Ovary	ovary
7	chr2:174089600-174103000	Weak transcription	K562	blood
8	chr2:174092200-174109400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:174092400-174100600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:174092400-174100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:174092400-174101200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:174092800-174101200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:174092800-174109200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:174093000-174101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:174093000-174102600	Weak transcription	Fetal Lung	lung
16	chr2:174093800-174106800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:174094200-174100800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
19	chr2:174095800-174102800	Strong transcription	Fetal Stomach	stomach
20	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:174096200-174100200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:174096200-174100800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:174096200-174102400	Weak transcription	Stomach Mucosa	stomach
24	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:174096400-174100200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:174096400-174107000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:174096400-174109200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:174096400-174112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:174096600-174103400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:174096600-174104400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:174096600-174105600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr2:174096600-174110800	Weak transcription	Small Intestine	intestine
33	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
34	chr2:174096600-174130800	Weak transcription	Gastric	stomach
35	chr2:174096800-174102800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:174096800-174108200	Weak transcription	Fetal Heart	heart
37	chr2:174096800-174108400	Strong transcription	Adipose Nuclei	Adipose
38	chr2:174097000-174100800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:174097000-174101200	Strong transcription	Fetal Intestine Large	intestine
40	chr2:174097000-174102000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:174097600-174100200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:174097600-174102400	Strong transcription	Lung	lung
43	chr2:174097600-174106400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:174097800-174101600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:174098000-174101000	Weak transcription	Hela-S3	cervix
46	chr2:174098000-174106800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:174098000-174109000	Weak transcription	Primary B cells from cord blood	blood
48	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:174098200-174124000	Weak transcription	NH-A	brain

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