Variant report

Variant	rs1439976
Chromosome Location	chr2:174084345-174084346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174079336..174081370-chr2:174081399..174084609,3	MCF-7	breast:
2	chr2:174082835..174084549-chr2:174085627..174087746,2	K562	blood:
3	chr2:174082835..174085269-chr2:174086246..174090013,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1345008	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3769188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3769198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3769202	0.91[AMR][1000 genomes]
rs3769209	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3820834	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710789	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425411	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7585396	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7603458	1.00[CEU][hapmap]

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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
2	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
3	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
4	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
5	chr2:174061200-174097600	Weak transcription	Lung	lung
6	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:174063600-174097600	Weak transcription	HSMM	muscle
8	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
9	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
14	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
15	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:174076400-174087800	Weak transcription	K562	blood
17	chr2:174076800-174085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:174077000-174086000	Weak transcription	A549	lung
19	chr2:174077000-174091800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
21	chr2:174078800-174091200	Weak transcription	Liver	Liver
22	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:174079200-174085800	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:174080800-174085600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:174081600-174084600	Enhancers	Fetal Lung	lung
26	chr2:174082200-174084600	Enhancers	Primary T cells from cord blood	blood
27	chr2:174082200-174085800	Weak transcription	Ovary	ovary
28	chr2:174082200-174088400	Weak transcription	Psoas Muscle	Psoas
29	chr2:174082200-174088800	Weak transcription	NHEK	skin
30	chr2:174082200-174095800	Weak transcription	Fetal Stomach	stomach
31	chr2:174082200-174097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:174082800-174084400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:174082800-174084400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:174082800-174092200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:174083000-174084600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:174083200-174084400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:174083200-174084400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:174083200-174084600	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:174083200-174092200	Weak transcription	NH-A	brain
40	chr2:174083400-174084400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:174083400-174086000	Weak transcription	Brain Germinal Matrix	brain
42	chr2:174083400-174100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
44	chr2:174083600-174084400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:174083600-174085800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:174083600-174089800	Weak transcription	Fetal Intestine Small	intestine
47	chr2:174083600-174103400	Weak transcription	NHLF	lung
48	chr2:174083800-174085600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:174083800-174085600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:174083800-174085800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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