Variant report

Variant	rs13425514
Chromosome Location	chr2:183839324-183839325
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183837480..183840062-chr2:183843767..183847602,3	MCF-7	breast:
2	chr2:183838297..183842260-chr2:183845536..183849861,4	K562	blood:
3	chr2:183834989..183837241-chr2:183837791..183841103,4	K562	blood:
4	chr2:183838108..183840587-chr2:183848361..183850373,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10192715	1.00[AFR][1000 genomes]
rs10200235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11887082	1.00[EUR][1000 genomes]
rs11899136	1.00[EUR][1000 genomes]
rs11904544	1.00[EUR][1000 genomes]
rs13422583	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432715	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1516242	0.82[YRI][hapmap]
rs16823994	1.00[EUR][1000 genomes]
rs16824047	1.00[EUR][1000 genomes]
rs16824100	1.00[EUR][1000 genomes]
rs16824103	1.00[EUR][1000 genomes]
rs2368374	1.00[EUR][1000 genomes]
rs55985024	1.00[EUR][1000 genomes]
rs56987972	1.00[EUR][1000 genomes]
rs57022552	1.00[EUR][1000 genomes]
rs59648361	1.00[EUR][1000 genomes]
rs60835883	1.00[EUR][1000 genomes]
rs60857445	1.00[EUR][1000 genomes]
rs61212352	1.00[EUR][1000 genomes]
rs6434010	1.00[EUR][1000 genomes]
rs73040916	1.00[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
4	chr2:183788200-183845600	Weak transcription	Lung	lung
5	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
6	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:183812200-183842000	Weak transcription	Right Ventricle	heart
12	chr2:183812200-183874800	Weak transcription	Gastric	stomach
13	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
15	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:183814800-183845600	Weak transcription	Ovary	ovary
17	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:183820000-183850800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:183821600-183841200	Weak transcription	Hela-S3	cervix
20	chr2:183822400-183841800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:183824200-183839400	Weak transcription	HSMMtube	muscle
22	chr2:183827000-183859000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:183827200-183849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:183830800-183842000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:183831400-183841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:183831400-183856000	Weak transcription	Fetal Stomach	stomach
28	chr2:183832000-183860000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:183833600-183841000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:183833600-183842000	Weak transcription	Left Ventricle	heart
31	chr2:183833600-183842000	Weak transcription	Psoas Muscle	Psoas
32	chr2:183833600-183847000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:183833600-183864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:183833600-183874800	Weak transcription	Brain Substantia Nigra	brain
35	chr2:183833600-183874800	Weak transcription	Pancreas	Pancrea
36	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:183833800-183841800	Weak transcription	Fetal Heart	heart
39	chr2:183833800-183842200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:183833800-183842200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:183833800-183842200	Weak transcription	NHLF	lung
42	chr2:183833800-183845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:183833800-183847200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:183836200-183839400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:183836200-183839400	Strong transcription	HSMM	muscle
46	chr2:183836200-183851400	Strong transcription	HMEC	breast
47	chr2:183836200-183854000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:183836200-183854200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:183836200-183855200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:183836400-183840000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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