Variant report

Variant	rs12214609
Chromosome Location	chr6:49402319-49402320
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	chr6:49395795..49399005-chr6:49401983..49404851,4	K562	blood:
2	chr6:49401244..49402947-chr6:49432509..49434814,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10948505	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948506	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948507	0.88[ASN][1000 genomes]
rs11964378	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11970105	0.87[EUR][1000 genomes]
rs12189789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190697	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191171	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197340	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197394	0.87[EUR][1000 genomes]
rs12198507	0.88[ASN][1000 genomes]
rs12202875	0.88[ASN][1000 genomes]
rs12204398	0.88[ASN][1000 genomes]
rs12204617	0.88[ASN][1000 genomes]
rs12206768	0.88[ASN][1000 genomes]
rs12208117	0.88[ASN][1000 genomes]
rs12208221	0.88[ASN][1000 genomes]
rs12214010	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17663557	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17663627	0.88[ASN][1000 genomes]
rs2127756	0.88[ASN][1000 genomes]
rs2127759	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57912929	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928563	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755833	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756016	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7774623	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49392400-49403800	Weak transcription	Right Ventricle	heart
2	chr6:49393400-49406400	Weak transcription	Lung	lung
3	chr6:49394800-49403200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:49395200-49406400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:49395200-49406400	Weak transcription	Fetal Stomach	stomach
6	chr6:49395200-49406400	Weak transcription	Gastric	stomach
7	chr6:49395200-49406400	Weak transcription	Spleen	Spleen
8	chr6:49395400-49402400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:49395400-49406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:49395400-49429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:49395600-49403200	Weak transcription	Psoas Muscle	Psoas
12	chr6:49395600-49406400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:49395600-49406400	Weak transcription	Thymus	Thymus
14	chr6:49395800-49402400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:49395800-49406600	Weak transcription	Colonic Mucosa	Colon
16	chr6:49396000-49402400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:49396000-49420800	Strong transcription	Liver	Liver
18	chr6:49396000-49427400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:49396200-49420400	Strong transcription	Adipose Nuclei	Adipose
20	chr6:49396400-49403400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:49396400-49407600	Weak transcription	HSMMtube	muscle
22	chr6:49396400-49429400	Weak transcription	Stomach Mucosa	stomach
23	chr6:49396600-49402400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:49396600-49408800	Strong transcription	Primary T cells from cord blood	blood
25	chr6:49396600-49411000	Weak transcription	Fetal Heart	heart
26	chr6:49396600-49412400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:49396800-49403200	Weak transcription	Pancreas	Pancrea
28	chr6:49396800-49404200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:49396800-49406200	Weak transcription	Aorta	Aorta
30	chr6:49396800-49406400	Weak transcription	Esophagus	oesophagus
31	chr6:49397000-49413800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:49397000-49419800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr6:49397000-49425800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr6:49397000-49426600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:49397200-49404600	Strong transcription	Primary B cells from cord blood	blood
36	chr6:49397200-49421200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:49397400-49412600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:49397400-49425600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:49397400-49426000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:49397800-49419800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:49397800-49420000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:49398000-49405400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:49398000-49412600	Strong transcription	Fetal Intestine Large	intestine
44	chr6:49398200-49407800	Weak transcription	Small Intestine	intestine
45	chr6:49398200-49429600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:49398400-49425600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:49398400-49427200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:49398600-49420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:49398800-49402400	Weak transcription	NHLF	lung
50	chr6:49398800-49404600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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