Variant report

Variant	rs503913
Chromosome Location	chr2:234763226-234763227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12692249	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs169922	0.95[ASN][1000 genomes]
rs169925	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs183331	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs213545	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2286433	1.00[CEU][hapmap]
rs2302156	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4663339	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs501145	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs525359	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs528971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531643	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs554699	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs556691	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs580045	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs609942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs619929	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs626110	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs637082	0.81[EUR][1000 genomes]
rs638071	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6431643	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6431644	0.95[ASN][1000 genomes]
rs648818	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs650700	0.81[EUR][1000 genomes]
rs654279	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs689101	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570755	0.92[CEU][hapmap]
rs887062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234761200-234763600	Active TSS	NHLF	lung
2	chr2:234761200-234764000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:234761400-234763800	Active TSS	NHDF-Ad	bronchial
4	chr2:234761400-234764000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:234761600-234763600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:234761600-234763600	Active TSS	Hela-S3	cervix
7	chr2:234761600-234763800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:234761600-234763800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:234761600-234763800	Active TSS	Fetal Kidney	kidney
10	chr2:234761600-234763800	Active TSS	GM12878-XiMat	blood
11	chr2:234761800-234763400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:234761800-234763600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:234761800-234763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:234761800-234763800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:234761800-234763800	Active TSS	Fetal Intestine Small	intestine
16	chr2:234761800-234763800	Active TSS	Rectal Smooth Muscle	rectum
17	chr2:234761800-234764000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:234761800-234764000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:234762000-234763600	Active TSS	Esophagus	oesophagus
20	chr2:234762000-234763800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:234762000-234763800	Active TSS	Fetal Intestine Large	intestine
22	chr2:234762000-234763800	Active TSS	HSMM	muscle
23	chr2:234762000-234764000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:234762000-234764000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:234762200-234763400	Bivalent/Poised TSS	HepG2	liver
26	chr2:234762200-234763400	Active TSS	NHEK	skin
27	chr2:234762200-234763600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:234762200-234763600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:234762200-234763600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:234762200-234763800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:234762200-234763800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:234762200-234763800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:234762200-234764000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr2:234762200-234764000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr2:234762400-234763400	Active TSS	HMEC	breast
36	chr2:234762400-234763600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr2:234762400-234763600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:234762400-234763600	Active TSS	Small Intestine	intestine
39	chr2:234762400-234763600	Active TSS	K562	blood
40	chr2:234762400-234763600	Active TSS	Osteobl	bone
41	chr2:234762400-234763800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:234762400-234763800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:234762400-234763800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:234762400-234763800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:234762400-234763800	Active TSS	Brain Substantia Nigra	brain
46	chr2:234762400-234763800	Active TSS	HSMMtube	muscle
47	chr2:234762400-234764200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:234762400-234764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:234762600-234763400	Enhancers	Fetal Brain Male	brain
50	chr2:234762600-234763400	Active TSS	Dnd41	blood

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