Variant report

Variant	rs16841601
Chromosome Location	chr2:190082747-190082748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190080736..190083393-chr2:190084840..190086355,2	MCF-7	breast:
2	chr2:190081415..190084414-chr2:190089702..190092239,3	MCF-7	breast:
3	chr2:190081246..190084128-chr2:190084434..190087476,3	K562	blood:

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

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

rs_ID	r²[population]
rs10164448	0.97[EUR][1000 genomes]
rs10198505	1.00[EUR][1000 genomes]
rs10755003	1.00[EUR][1000 genomes]
rs10931409	0.88[EUR][1000 genomes]
rs1464262	1.00[EUR][1000 genomes]
rs1473999	1.00[EUR][1000 genomes]
rs1515867	1.00[EUR][1000 genomes]
rs1606931	1.00[EUR][1000 genomes]
rs16831217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16831356	0.97[EUR][1000 genomes]
rs17270980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2030293	1.00[EUR][1000 genomes]
rs2102874	1.00[EUR][1000 genomes]
rs2176649	0.97[EUR][1000 genomes]
rs2351634	1.00[EUR][1000 genomes]
rs2683011	0.88[EUR][1000 genomes]
rs4031918	1.00[EUR][1000 genomes]
rs4494782	0.91[EUR][1000 genomes]
rs4666773	0.94[EUR][1000 genomes]
rs56920210	0.91[EUR][1000 genomes]
rs58288282	0.97[EUR][1000 genomes]
rs58796942	0.97[EUR][1000 genomes]
rs6434335	1.00[EUR][1000 genomes]
rs73978612	0.91[EUR][1000 genomes]
rs73978617	0.97[EUR][1000 genomes]
rs73978620	0.97[EUR][1000 genomes]
rs73982009	1.00[EUR][1000 genomes]
rs73982031	0.84[EUR][1000 genomes]
rs7591652	1.00[EUR][1000 genomes]
rs7596033	1.00[EUR][1000 genomes]
rs870921	0.91[EUR][1000 genomes]
rs870922	1.00[EUR][1000 genomes]
rs939157	1.00[EUR][1000 genomes]
rs939159	1.00[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190076000-190087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:190076000-190096800	Weak transcription	Aorta	Aorta
3	chr2:190077000-190086000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:190077000-190086400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:190077000-190086600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:190077000-190086600	Weak transcription	Fetal Stomach	stomach
7	chr2:190078000-190083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:190078000-190084000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:190078400-190087800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:190078600-190086000	Weak transcription	NHDF-Ad	bronchial
11	chr2:190078600-190086800	Weak transcription	NHLF	lung
12	chr2:190079800-190083600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:190080000-190083600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:190081400-190083000	Flanking Active TSS	A549	lung
15	chr2:190081600-190082800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:190081600-190082800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:190081600-190082800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:190081600-190083200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:190081600-190083200	Enhancers	NH-A	brain
20	chr2:190081600-190083400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:190081800-190082800	Enhancers	Fetal Lung	lung
22	chr2:190082000-190082800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:190082000-190083400	Enhancers	HSMM	muscle
24	chr2:190082200-190082800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:190082200-190083600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:190082400-190082800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:190082400-190082800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:190082400-190082800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:190082400-190082800	Enhancers	Fetal Muscle Leg	muscle
30	chr2:190082600-190082800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:190082600-190082800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:190082600-190082800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:190082600-190082800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:190082600-190083400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:190082600-190085800	Weak transcription	HUVEC	blood vessel
36	chr2:190082600-190086000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:190082600-190086800	Weak transcription	HSMMtube	muscle

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