Variant report

Variant	rs12496868
Chromosome Location	chr3:194895355-194895356
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	chr3:194893170..194895708-chr3:194897276..194900351,5	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11925335	0.83[EUR][1000 genomes]
rs12490970	1.00[AFR][1000 genomes]
rs12634183	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1874102	0.83[EUR][1000 genomes]
rs1961324	0.83[EUR][1000 genomes]
rs2410805	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3796160	0.83[EUR][1000 genomes]
rs56283237	0.83[EUR][1000 genomes]
rs59190596	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6810043	0.83[EUR][1000 genomes]
rs721007	0.83[EUR][1000 genomes]
rs7628353	0.82[ASN][1000 genomes]
rs9825199	0.83[EUR][1000 genomes]
rs9826142	0.82[EUR][1000 genomes]
rs9870185	0.83[EUR][1000 genomes]
rs9870684	0.83[EUR][1000 genomes]
rs9879463	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9883144	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
14	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194862400-194897800	Weak transcription	Dnd41	blood
2	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
3	chr3:194881600-194903000	Weak transcription	HSMM	muscle
4	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
9	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:194885400-194906600	Weak transcription	Gastric	stomach
11	chr3:194885600-194900600	Weak transcription	Ovary	ovary
12	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
13	chr3:194886800-194896400	Weak transcription	Pancreas	Pancrea
14	chr3:194887000-194895800	Weak transcription	Fetal Intestine Small	intestine
15	chr3:194889800-194900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:194890200-194896200	Weak transcription	HepG2	liver
18	chr3:194891200-194895400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:194891400-194895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:194892000-194895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:194892000-194899000	Weak transcription	Brain Anterior Caudate	brain
22	chr3:194892000-194899200	Weak transcription	Esophagus	oesophagus
23	chr3:194892200-194899400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:194892200-194902200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:194892400-194907400	Weak transcription	HSMMtube	muscle
26	chr3:194892600-194895800	Weak transcription	Adipose Nuclei	Adipose
27	chr3:194892600-194906200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:194892800-194895400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:194893000-194895800	Weak transcription	NHLF	lung
30	chr3:194893200-194895800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:194893200-194895800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:194893200-194896000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr3:194893200-194900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:194893200-194900800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:194893400-194895800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:194893400-194896000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:194893400-194896000	Weak transcription	Fetal Lung	lung
38	chr3:194893400-194896000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:194893400-194898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:194893400-194898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:194893400-194899000	Weak transcription	Psoas Muscle	Psoas
42	chr3:194893400-194899400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:194893400-194902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:194893600-194896000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:194893600-194898800	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:194893600-194899200	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:194893600-194899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:194893600-194900600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:194893600-194902200	Weak transcription	NHEK	skin
50	chr3:194893600-194903000	Weak transcription	Muscle Satellite Cultured Cells	--

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