Variant report

Variant	rs501145
Chromosome Location	chr2:234762898-234762899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234762685..234763322-chr22:37595016..37595706,2	NB4	blood:
2	chr2:234761504..234764477-chr2:234824983..234827662,2	MCF-7	breast:
3	chr2:234760939..234763453-chr2:235403879..235406192,2	K562	blood:
4	chr1:192778136..192778641-chr2:234762703..234763332,2	Hela-S3	cervix:
5	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
6	chr2:234387565..234390486-chr2:234761608..234763193,2	MCF-7	breast:
7	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction
ENSG00000188042	Chromatin interaction
ENSG00000144481	Chromatin interaction
ENSG00000133466	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000116741	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12692249	0.92[EUR][1000 genomes]
rs13003628	0.94[ASN][1000 genomes]
rs169925	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs213542	0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2215172	0.94[ASN][1000 genomes]
rs2286433	1.00[CEU][hapmap]
rs2302156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs503913	1.00[CEU][hapmap]
rs525359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528971	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs531643	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs554699	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs556691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609942	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs619929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs626110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs637082	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs638071	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648818	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs650570	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650700	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs654279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689101	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7570755	0.92[CEU][hapmap]
rs7596657	0.94[ASN][1000 genomes]
rs887062	1.00[CEU][hapmap];0.94[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	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
3	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234760400-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:234760800-234763000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr2:234761200-234763600	Active TSS	NHLF	lung
4	chr2:234761200-234764000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:234761400-234763800	Active TSS	NHDF-Ad	bronchial
6	chr2:234761400-234764000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:234761600-234763000	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr2:234761600-234763600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:234761600-234763600	Active TSS	Hela-S3	cervix
10	chr2:234761600-234763800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:234761600-234763800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:234761600-234763800	Active TSS	Fetal Kidney	kidney
13	chr2:234761600-234763800	Active TSS	GM12878-XiMat	blood
14	chr2:234761800-234763000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr2:234761800-234763000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:234761800-234763400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:234761800-234763600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:234761800-234763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234761800-234763800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:234761800-234763800	Active TSS	Fetal Intestine Small	intestine
21	chr2:234761800-234763800	Active TSS	Rectal Smooth Muscle	rectum
22	chr2:234761800-234764000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:234761800-234764000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:234762000-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:234762000-234763000	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr2:234762000-234763600	Active TSS	Esophagus	oesophagus
27	chr2:234762000-234763800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:234762000-234763800	Active TSS	Fetal Intestine Large	intestine
29	chr2:234762000-234763800	Active TSS	HSMM	muscle
30	chr2:234762000-234764000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:234762000-234764000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:234762200-234763000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr2:234762200-234763000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:234762200-234763200	Flanking Active TSS	Placenta	Placenta
35	chr2:234762200-234763400	Bivalent/Poised TSS	HepG2	liver
36	chr2:234762200-234763400	Active TSS	NHEK	skin
37	chr2:234762200-234763600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:234762200-234763600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:234762200-234763600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:234762200-234763800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:234762200-234763800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:234762200-234763800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:234762200-234764000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:234762200-234764000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr2:234762400-234763000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr2:234762400-234763000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr2:234762400-234763000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:234762400-234763000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:234762400-234763000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:234762400-234763000	Flanking Active TSS	Right Ventricle	heart

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