Variant report

Variant	rs12328075
Chromosome Location	chr2:86262005-86262006
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10153790	0.88[AFR][1000 genomes]
rs10171798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174095	0.88[AFR][1000 genomes]
rs10175597	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10179466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184159	1.00[AMR][1000 genomes]
rs10193712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195896	0.81[AFR][1000 genomes]
rs12617717	0.92[AFR][1000 genomes]
rs12620810	0.83[AFR][1000 genomes]
rs13387316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393659	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394650	1.00[AMR][1000 genomes]
rs13401184	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402568	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403007	1.00[AMR][1000 genomes]
rs13403541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404362	0.89[AFR][1000 genomes]
rs13413723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027011	0.81[AFR][1000 genomes]
rs2018608	0.92[AFR][1000 genomes]
rs2241435	0.92[AFR][1000 genomes]
rs2303339	0.92[AFR][1000 genomes]
rs2303340	0.92[AFR][1000 genomes]
rs28483806	1.00[AMR][1000 genomes]
rs28617344	1.00[AMR][1000 genomes]
rs28631015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3770066	0.83[AFR][1000 genomes]
rs56104203	0.92[AFR][1000 genomes]
rs57020255	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57062037	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57817729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60768598	1.00[AMR][1000 genomes]
rs6748343	1.00[AMR][1000 genomes]
rs6755228	1.00[AMR][1000 genomes]
rs9309631	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973880	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:86250800-86262200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:86251000-86262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:86251000-86262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:86251200-86262400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:86251200-86262800	Strong transcription	Fetal Brain Female	brain
7	chr2:86251200-86263200	Strong transcription	A549	lung
8	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr2:86251200-86283000	Strong transcription	HepG2	liver
11	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:86251400-86262800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:86251400-86263400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:86251800-86262400	Strong transcription	Fetal Intestine Small	intestine
17	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:86252200-86262400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:86252200-86262600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:86252400-86262200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:86252400-86262400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:86252400-86262400	Strong transcription	NHEK	skin
25	chr2:86252400-86262600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:86252400-86263000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:86252600-86262600	Strong transcription	Hela-S3	cervix
29	chr2:86252600-86262800	Strong transcription	Fetal Intestine Large	intestine
30	chr2:86252600-86263200	Strong transcription	Aorta	Aorta
31	chr2:86252600-86267800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:86252600-86276800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:86252800-86262400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:86253000-86262600	Strong transcription	Brain Germinal Matrix	brain
35	chr2:86253000-86262600	Strong transcription	Fetal Lung	lung
36	chr2:86253200-86262800	Weak transcription	Fetal Brain Male	brain
37	chr2:86253800-86262400	Strong transcription	Brain Angular Gyrus	brain
38	chr2:86254400-86263000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:86254400-86263600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:86254600-86262800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:86255600-86262400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr2:86255800-86262400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:86255800-86262400	Strong transcription	HSMMtube	muscle
44	chr2:86256000-86262200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:86256000-86262400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:86256000-86262400	Strong transcription	HSMM	muscle
47	chr2:86256400-86262400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:86256400-86262600	Strong transcription	NHLF	lung
49	chr2:86256600-86262400	Strong transcription	Placenta	Placenta
50	chr2:86256600-86262600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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