Variant report

Variant	rs2010230
Chromosome Location	chr2:169657551-169657552
allele	A/C
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]
rs17265731	1.00[ASN][1000 genomes]
rs17265949	1.00[ASN][1000 genomes]
rs2433679	0.89[ASN][1000 genomes]
rs2461362	0.89[ASN][1000 genomes]
rs2461390	0.89[ASN][1000 genomes]
rs494120	0.89[ASN][1000 genomes]
rs498488	0.89[ASN][1000 genomes]
rs551037	1.00[ASN][1000 genomes]
rs572411	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433093	1.00[ASN][1000 genomes]
rs829955	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829960	0.89[ASN][1000 genomes]
rs830025	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs830026	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169652000-169659000	Weak transcription	Fetal Kidney	kidney
2	chr2:169652200-169658800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:169653000-169658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:169653000-169658400	Weak transcription	Fetal Stomach	stomach
5	chr2:169653000-169658800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:169653000-169658800	Weak transcription	Ovary	ovary
7	chr2:169653000-169659000	Weak transcription	Right Ventricle	heart
8	chr2:169653000-169659200	Enhancers	Fetal Intestine Small	intestine
9	chr2:169653800-169658400	Weak transcription	Placenta	Placenta
10	chr2:169655400-169658800	Weak transcription	Fetal Lung	lung
11	chr2:169655600-169658400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:169655600-169658600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:169655600-169658600	Enhancers	K562	blood
14	chr2:169655800-169658200	Weak transcription	Fetal Heart	heart
15	chr2:169655800-169658400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:169655800-169658600	Weak transcription	HUVEC	blood vessel
17	chr2:169656000-169658000	Weak transcription	Colonic Mucosa	Colon
18	chr2:169656000-169658200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:169656000-169658400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:169656000-169658400	Weak transcription	Small Intestine	intestine
21	chr2:169656000-169666800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:169656200-169657800	Weak transcription	Fetal Intestine Large	intestine
23	chr2:169656200-169658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:169656200-169658200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:169656200-169658400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:169656200-169658600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:169656200-169658800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:169656200-169658800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:169656200-169659000	Weak transcription	Spleen	Spleen
30	chr2:169656400-169658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:169656400-169658200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:169656400-169658200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:169656400-169658600	Weak transcription	Right Atrium	heart
34	chr2:169656600-169658400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:169656600-169658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:169656600-169659000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:169656600-169659400	Weak transcription	Gastric	stomach
38	chr2:169656800-169658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:169656800-169658200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:169656800-169658200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:169656800-169658200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:169656800-169658600	Weak transcription	Pancreas	Pancrea
43	chr2:169656800-169658800	Weak transcription	Left Ventricle	heart
44	chr2:169657000-169658000	Weak transcription	Stomach Mucosa	stomach
45	chr2:169657200-169657800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:169657200-169658000	Weak transcription	Lung	lung
47	chr2:169657400-169657800	Weak transcription	Rectal Mucosa Donor 29	rectum

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