Variant report

Variant	rs2390731
Chromosome Location	chr2:169589698-169589699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169583369..169586130-chr2:169588675..169591111,2	K562	blood:
2	chr2:169569270..169571983-chr2:169588408..169590580,2	K562	blood:
3	chr2:169586129..169587928-chr2:169589301..169591019,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12692886	0.83[ASN][1000 genomes]
rs1402840	0.83[ASN][1000 genomes]
rs4233821	0.83[ASN][1000 genomes]
rs4668101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668103	0.83[ASN][1000 genomes]
rs6433088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433092	0.83[ASN][1000 genomes]
rs7558965	1.00[ASN][1000 genomes]
rs7585751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589456	0.97[EUR][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	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169562200-169598800	Weak transcription	Gastric	stomach
2	chr2:169565200-169622800	Weak transcription	Liver	Liver
3	chr2:169566400-169590600	Weak transcription	Fetal Brain Male	brain
4	chr2:169566600-169593200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:169573400-169593000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:169575000-169590000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:169575000-169594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:169575200-169594800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:169577200-169590600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:169577600-169606400	Weak transcription	Thymus	Thymus
11	chr2:169577600-169613600	Weak transcription	Fetal Kidney	kidney
12	chr2:169579600-169590200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:169579600-169593000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:169579600-169596400	Weak transcription	Ovary	ovary
15	chr2:169579600-169606000	Weak transcription	Pancreas	Pancrea
16	chr2:169579600-169610400	Weak transcription	HepG2	liver
17	chr2:169579600-169630200	Weak transcription	Aorta	Aorta
18	chr2:169579600-169630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:169580000-169591000	Weak transcription	Right Ventricle	heart
20	chr2:169580400-169610600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:169580600-169594200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:169580600-169594600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:169580600-169597000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:169580800-169604200	Weak transcription	Fetal Thymus	thymus
25	chr2:169580800-169610600	Weak transcription	Primary B cells from cord blood	blood
26	chr2:169581000-169612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:169581200-169590800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:169581200-169606400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:169581400-169597600	Weak transcription	Fetal Intestine Large	intestine
30	chr2:169581600-169601200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:169581600-169610400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:169582000-169593000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:169583800-169613000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:169585800-169590200	Enhancers	Fetal Heart	heart
35	chr2:169586000-169590600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:169586000-169627600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:169586200-169607600	Weak transcription	Fetal Stomach	stomach
38	chr2:169586400-169589800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:169586400-169591200	Enhancers	HSMMtube	muscle
40	chr2:169586400-169593200	Weak transcription	Fetal Brain Female	brain
41	chr2:169586600-169589800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:169586600-169606400	Weak transcription	GM12878-XiMat	blood
43	chr2:169586800-169590000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:169586800-169598000	Weak transcription	Fetal Intestine Small	intestine
45	chr2:169587000-169589800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:169587200-169594000	Weak transcription	HMEC	breast
47	chr2:169587200-169606200	Weak transcription	Right Atrium	heart
48	chr2:169587800-169593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:169587800-169596200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:169587800-169623200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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