Variant report

Variant	rs12469391
Chromosome Location	chr2:37309732-37309733
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	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
2	chr2:37306796..37309782-chr2:37312097..37314349,2	K562	blood:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10084315	0.84[EUR][1000 genomes]
rs10176233	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176303	0.97[AFR][1000 genomes]
rs10188586	0.97[AFR][1000 genomes]
rs10202693	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10211667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12465097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12466249	0.84[EUR][1000 genomes]
rs12470942	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12474977	0.95[EUR][1000 genomes]
rs13398178	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399537	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424255	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425123	1.00[EUR][1000 genomes]
rs13426400	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2307469	0.95[EUR][1000 genomes]
rs4648182	1.00[CEU][hapmap]
rs4648184	1.00[CEU][hapmap]
rs4648203	1.00[CEU][hapmap]
rs4648228	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4648233	0.89[EUR][1000 genomes]
rs6718647	0.97[AFR][1000 genomes]
rs6732075	0.97[AFR][1000 genomes]
rs9631047	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
5	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
7	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
11	chr2:37297600-37310800	Weak transcription	Lung	lung
12	chr2:37302200-37310000	Weak transcription	Hela-S3	cervix
13	chr2:37302200-37310000	Strong transcription	Osteobl	bone
14	chr2:37302600-37310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:37302800-37310400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:37302800-37310400	Weak transcription	Fetal Kidney	kidney
17	chr2:37303600-37309800	Weak transcription	NHLF	lung
18	chr2:37303600-37310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:37303800-37310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:37304400-37310200	Weak transcription	NHDF-Ad	bronchial
21	chr2:37304800-37310600	Weak transcription	Aorta	Aorta
22	chr2:37304800-37310600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:37305000-37310400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:37305200-37310200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:37305400-37310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:37305600-37310800	Weak transcription	Left Ventricle	heart
27	chr2:37305800-37310400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr2:37306000-37310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:37306200-37310200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:37306400-37310200	Weak transcription	A549	lung
31	chr2:37306400-37310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:37306400-37310600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:37306400-37310600	Weak transcription	HSMM	muscle
34	chr2:37306800-37310200	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:37306800-37310600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:37307000-37309800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:37307200-37309800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:37307200-37310000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:37307200-37310000	Strong transcription	K562	blood
40	chr2:37307400-37310000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:37307400-37310200	Weak transcription	Fetal Lung	lung
42	chr2:37307800-37310600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:37308000-37309800	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:37308000-37309800	Weak transcription	Stomach Mucosa	stomach
45	chr2:37308000-37310400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:37308200-37310600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:37308400-37309800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:37308400-37310200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:37308400-37310200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:37308400-37310200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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