Variant report

Variant	rs12474184
Chromosome Location	chr2:63253594-63253595
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63252312..63254872-chr2:63263064..63265744,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12991414	0.88[EUR][1000 genomes]
rs12996320	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13000344	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13006926	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13026938	0.85[EUR][1000 genomes]
rs13027462	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17850223	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2018650	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162011	0.87[ASN][1000 genomes]
rs2302567	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35589581	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35617987	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35881827	0.87[EUR][1000 genomes]
rs4671052	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4671452	0.80[EUR][1000 genomes]
rs4671453	0.88[EUR][1000 genomes]
rs4671454	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63167600-63256000	Weak transcription	HSMMtube	muscle
3	chr2:63170400-63255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:63199800-63258200	Weak transcription	Lung	lung
5	chr2:63207800-63258000	Weak transcription	Placenta	Placenta
6	chr2:63209400-63260000	Weak transcription	Aorta	Aorta
7	chr2:63219200-63269800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:63219400-63261600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:63221600-63255600	Weak transcription	Fetal Kidney	kidney
10	chr2:63221800-63255200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:63224400-63256200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:63224600-63271800	Weak transcription	Esophagus	oesophagus
13	chr2:63224600-63272000	Weak transcription	NHLF	lung
14	chr2:63227400-63258400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:63227400-63259200	Weak transcription	Hela-S3	cervix
16	chr2:63227600-63256200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:63228000-63254400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:63228000-63267600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:63238200-63262800	Weak transcription	Fetal Brain Male	brain
20	chr2:63238400-63267600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:63239600-63256800	Strong transcription	Liver	Liver
22	chr2:63240800-63271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:63240800-63272200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:63241200-63261600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:63241400-63253800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:63241400-63254800	Weak transcription	Left Ventricle	heart
27	chr2:63241400-63256000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:63241400-63256000	Weak transcription	Fetal Lung	lung
29	chr2:63241400-63256200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:63241400-63256800	Weak transcription	Primary T cells from cord blood	blood
31	chr2:63241400-63261600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:63241400-63261600	Weak transcription	NH-A	brain
33	chr2:63241600-63254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:63241600-63258200	Weak transcription	Dnd41	blood
35	chr2:63241600-63259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:63241800-63259000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:63244000-63274400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:63244200-63253600	Weak transcription	A549	lung
39	chr2:63244200-63254600	Weak transcription	Ovary	ovary
40	chr2:63244200-63274600	Weak transcription	Pancreas	Pancrea
41	chr2:63244400-63260200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:63244600-63255400	Weak transcription	Fetal Intestine Large	intestine
43	chr2:63244600-63256600	Weak transcription	Osteobl	bone
44	chr2:63244600-63261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:63245200-63256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:63245400-63261600	Weak transcription	Brain Germinal Matrix	brain
47	chr2:63247400-63255600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:63247600-63256000	Strong transcription	HepG2	liver
49	chr2:63248200-63255400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:63248200-63257400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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