Variant report

Variant	rs2289395
Chromosome Location	chr2:174082100-174082101
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	chr2:174076030..174078880-chr2:174080707..174082990,2	K562	blood:
2	chr2:174079336..174081370-chr2:174081399..174084609,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12465665	0.89[EUR][1000 genomes]
rs16861266	1.00[GIH][hapmap];0.80[MEX][hapmap];0.83[EUR][1000 genomes]
rs16861269	0.83[EUR][1000 genomes]
rs16861279	0.83[EUR][1000 genomes]
rs16861295	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16861304	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs16861323	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053964	1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs2119123	0.80[JPT][hapmap]
rs2119124	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3739103	0.90[MEX][hapmap];0.81[AMR][1000 genomes]
rs3754738	0.81[AMR][1000 genomes]
rs3769155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769164	0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769166	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769175	0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769176	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769179	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3769183	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769190	0.83[EUR][1000 genomes]
rs3769206	0.83[EUR][1000 genomes]
rs3769208	0.83[EUR][1000 genomes]
rs3820832	0.81[AMR][1000 genomes]
rs4632313	0.88[LWK][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs4972538	0.80[MEX][hapmap]
rs58407376	0.99[ASN][1000 genomes]
rs59935415	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61032750	0.83[EUR][1000 genomes]
rs61183795	0.96[ASN][1000 genomes]
rs6717067	1.00[ASN][1000 genomes]
rs6753354	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs73971702	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7566222	0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7571788	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][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	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
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
3	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
4	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
5	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
6	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
7	chr2:174061200-174097600	Weak transcription	Lung	lung
8	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:174063600-174097600	Weak transcription	HSMM	muscle
12	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
13	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
14	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:174064200-174083000	Weak transcription	HepG2	liver
16	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:174069400-174082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
22	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
24	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
25	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:174075600-174083000	Weak transcription	Fetal Kidney	kidney
27	chr2:174075800-174082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:174075800-174082800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:174075800-174083000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:174076000-174083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:174076200-174082800	Weak transcription	Fetal Heart	heart
32	chr2:174076400-174082200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:174076400-174083200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:174076400-174083200	Weak transcription	Dnd41	blood
35	chr2:174076400-174087800	Weak transcription	K562	blood
36	chr2:174076800-174085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:174077000-174086000	Weak transcription	A549	lung
38	chr2:174077000-174091800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:174077400-174082400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:174077400-174083000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
42	chr2:174077600-174083000	Weak transcription	Fetal Intestine Small	intestine
43	chr2:174078800-174091200	Weak transcription	Liver	Liver
44	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:174079000-174083200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:174079200-174083000	Weak transcription	Brain Germinal Matrix	brain
47	chr2:174079200-174083200	Weak transcription	Fetal Intestine Large	intestine
48	chr2:174079200-174085800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:174080200-174083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:174080600-174083000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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