Variant report

Variant	rs13419998
Chromosome Location	chr2:190074383-190074384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190068274..190071014-chr2:190073430..190076156,3	K562	blood:
2	chr2:190064765..190067723-chr2:190072988..190074631,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10165488	1.00[AMR][1000 genomes]
rs10166867	1.00[AMR][1000 genomes]
rs10168625	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180374	1.00[AMR][1000 genomes]
rs10182790	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10182959	1.00[AMR][1000 genomes]
rs10190048	1.00[AMR][1000 genomes]
rs10193357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195176	1.00[AMR][1000 genomes]
rs10196855	1.00[YRI][hapmap]
rs10202897	1.00[AMR][1000 genomes]
rs10203522	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10210715	1.00[AMR][1000 genomes]
rs13382234	1.00[AMR][1000 genomes]
rs13383366	1.00[YRI][hapmap]
rs13383588	1.00[YRI][hapmap]
rs13385828	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13389070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13392501	1.00[YRI][hapmap]
rs13395385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396958	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401632	1.00[AMR][1000 genomes]
rs13405825	1.00[AMR][1000 genomes]
rs13407402	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408124	1.00[AMR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13413060	1.00[YRI][hapmap]
rs13416565	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13420752	1.00[AMR][1000 genomes]
rs13421412	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13423791	1.00[AMR][1000 genomes]
rs13429781	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13430867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431520	1.00[AMR][1000 genomes]
rs13433016	1.00[AMR][1000 genomes]
rs28475172	1.00[AMR][1000 genomes]
rs28712861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28763874	1.00[AMR][1000 genomes]
rs28763875	1.00[AMR][1000 genomes]
rs59459440	1.00[AMR][1000 genomes]
rs6712385	1.00[AMR][1000 genomes]
rs6732228	1.00[AMR][1000 genomes]
rs73981448	1.00[AMR][1000 genomes]
rs73981451	1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:190069800-190074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190070000-190074600	Weak transcription	HMEC	breast
3	chr2:190070400-190074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:190071200-190075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:190072200-190074800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:190072600-190074800	Enhancers	Adipose Nuclei	Adipose
7	chr2:190072600-190076000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:190072800-190074600	Enhancers	NHDF-Ad	bronchial
9	chr2:190072800-190074600	Enhancers	Osteobl	bone
10	chr2:190072800-190074800	Enhancers	HUVEC	blood vessel
11	chr2:190072800-190074800	Enhancers	NHLF	lung
12	chr2:190072800-190075000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:190072800-190075800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:190073000-190074400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:190073000-190074600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:190073000-190075400	Enhancers	Hela-S3	cervix
17	chr2:190073000-190077000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:190073000-190077000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:190073200-190074600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:190073200-190074800	Enhancers	NH-A	brain
21	chr2:190073200-190075400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:190073200-190075400	Enhancers	Fetal Stomach	stomach
23	chr2:190073200-190075400	Enhancers	HSMM	muscle
24	chr2:190073200-190075800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:190073200-190077000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:190073400-190074400	Weak transcription	Fetal Lung	lung
27	chr2:190073400-190074800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:190073400-190074800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:190073400-190077000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:190073600-190074600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:190073600-190075400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:190073600-190076600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:190073800-190074600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:190073800-190074800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:190073800-190075400	Weak transcription	Aorta	Aorta
36	chr2:190073800-190075400	Weak transcription	Ovary	ovary
37	chr2:190073800-190075400	Weak transcription	K562	blood
38	chr2:190073800-190075800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:190074000-190075800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:190074000-190076000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:190074000-190079400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:190074200-190074600	Enhancers	Colon Smooth Muscle	Colon
43	chr2:190074200-190074600	Enhancers	NHEK	skin
44	chr2:190074200-190075000	Flanking Active TSS	A549	lung
45	chr2:190074200-190076000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:190074200-190076000	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:190074200-190076200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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