Variant report

Variant	rs2097285
Chromosome Location	chr3:46441176-46441177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46435342..46437357-chr3:46438783..46441176,2	K562	blood:
2	chr3:46441114..46442760-chr3:46445695..46448198,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11574431	0.86[AFR][1000 genomes]
rs11574440	0.82[AFR][1000 genomes]
rs11574442	0.93[EUR][1000 genomes]
rs17285143	0.82[EUR][1000 genomes]
rs17715106	0.94[EUR][1000 genomes]
rs17765882	0.94[EUR][1000 genomes]
rs17782551	0.96[EUR][1000 genomes]
rs17782618	0.96[EUR][1000 genomes]
rs17782636	0.96[EUR][1000 genomes]
rs17842821	0.92[AFR][1000 genomes]
rs2157055	0.84[EUR][1000 genomes]
rs2373245	0.87[EUR][1000 genomes]
rs2373250	0.87[EUR][1000 genomes]
rs2373251	0.84[EUR][1000 genomes]
rs2856762	0.94[EUR][1000 genomes]
rs3181038	0.87[EUR][1000 genomes]
rs3204850	0.93[EUR][1000 genomes]
rs34158148	0.94[EUR][1000 genomes]
rs34190223	0.94[EUR][1000 genomes]
rs34203322	0.90[EUR][1000 genomes]
rs34245951	0.87[EUR][1000 genomes]
rs34265215	0.82[EUR][1000 genomes]
rs34455547	0.94[EUR][1000 genomes]
rs34883716	0.94[EUR][1000 genomes]
rs34997818	0.89[EUR][1000 genomes]
rs35118578	0.88[EUR][1000 genomes]
rs35260614	0.85[EUR][1000 genomes]
rs35386789	0.88[EUR][1000 genomes]
rs35479331	0.97[EUR][1000 genomes]
rs35516519	0.94[EUR][1000 genomes]
rs35568430	0.93[EUR][1000 genomes]
rs35821444	0.94[EUR][1000 genomes]
rs35883833	0.82[EUR][1000 genomes]
rs36020695	0.82[EUR][1000 genomes]
rs6806951	0.96[EUR][1000 genomes]
rs71327059	0.82[EUR][1000 genomes]
rs71327063	0.90[EUR][1000 genomes]
rs723577	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46425400-46441800	Weak transcription	Stomach Mucosa	stomach
2	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
4	chr3:46437200-46446800	Weak transcription	Hela-S3	cervix
5	chr3:46437600-46445000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:46437800-46441200	Weak transcription	HSMM	muscle
7	chr3:46438200-46443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:46438600-46447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:46438800-46447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:46439200-46448200	Weak transcription	Left Ventricle	heart
12	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
13	chr3:46440200-46442000	Enhancers	Dnd41	blood
14	chr3:46440400-46441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:46440400-46441600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:46440400-46443000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:46440400-46443000	Enhancers	K562	blood
18	chr3:46440600-46441600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:46440600-46441600	Enhancers	Osteobl	bone
20	chr3:46440600-46441800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:46440600-46441800	Enhancers	HUVEC	blood vessel
22	chr3:46440600-46442000	Enhancers	Placenta	Placenta
23	chr3:46440600-46442200	Enhancers	Lung	lung
24	chr3:46440600-46442400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:46440600-46442800	Enhancers	NHLF	lung
26	chr3:46440800-46441600	Bivalent Enhancer	NHDF-Ad	bronchial
27	chr3:46440800-46442200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:46440800-46442200	Enhancers	NH-A	brain
29	chr3:46440800-46442400	Enhancers	Fetal Heart	heart
30	chr3:46441000-46441600	Enhancers	Small Intestine	intestine
31	chr3:46441000-46441800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:46441000-46442200	Weak transcription	Spleen	Spleen
33	chr3:46441000-46442400	Enhancers	HSMMtube	muscle
34	chr3:46441000-46446200	Weak transcription	Adipose Nuclei	Adipose

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