Variant report

Variant	rs12503015
Chromosome Location	chr4:15650945-15650946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15649873..15653235-chr4:15657425..15660766,3	MCF-7	breast:
2	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
3	chr4:15649396..15652390-chr4:15655110..15656784,2	MCF-7	breast:
4	chr4:15650347..15653334-chr4:15655350..15658459,4	K562	blood:
5	chr4:15650281..15653257-chr4:15654255..15656394,2	K562	blood:

Variant related genes	Relation type
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10003739	0.90[EUR][1000 genomes]
rs10008875	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10008889	0.90[EUR][1000 genomes]
rs10012838	0.89[EUR][1000 genomes]
rs10017295	0.82[EUR][1000 genomes]
rs10022610	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10025837	0.86[EUR][1000 genomes]
rs10026851	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10030313	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10031017	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10034328	0.90[EUR][1000 genomes]
rs10939628	0.90[EUR][1000 genomes]
rs11932730	0.88[EUR][1000 genomes]
rs11933521	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11939541	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11942335	0.82[EUR][1000 genomes]
rs11943107	0.88[EUR][1000 genomes]
rs11945626	0.88[EUR][1000 genomes]
rs12508186	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12509029	0.86[EUR][1000 genomes]
rs12511894	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12644327	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12645849	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13116304	0.88[EUR][1000 genomes]
rs13121363	0.88[EUR][1000 genomes]
rs1473166	0.86[EUR][1000 genomes]
rs16892140	0.86[EUR][1000 genomes]
rs16892152	0.88[EUR][1000 genomes]
rs2041671	0.88[EUR][1000 genomes]
rs2160044	0.88[EUR][1000 genomes]
rs28419165	0.87[EUR][1000 genomes]
rs28522268	0.88[EUR][1000 genomes]
rs28528670	0.87[EUR][1000 genomes]
rs28534607	0.88[EUR][1000 genomes]
rs28661857	0.87[EUR][1000 genomes]
rs3822298	0.87[EUR][1000 genomes]
rs4235380	0.82[EUR][1000 genomes]
rs4279203	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280723	0.88[EUR][1000 genomes]
rs4280724	0.88[EUR][1000 genomes]
rs4393989	0.88[EUR][1000 genomes]
rs4583752	0.81[EUR][1000 genomes]
rs4591601	0.90[EUR][1000 genomes]
rs4642244	0.82[EUR][1000 genomes]
rs4698403	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4698405	0.90[EUR][1000 genomes]
rs4698408	0.90[EUR][1000 genomes]
rs56041141	0.88[EUR][1000 genomes]
rs57526178	0.86[EUR][1000 genomes]
rs60040560	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60813847	0.86[EUR][1000 genomes]
rs6449149	0.88[EUR][1000 genomes]
rs6831286	0.88[EUR][1000 genomes]
rs6839438	0.89[EUR][1000 genomes]
rs73125606	0.86[EUR][1000 genomes]
rs73125616	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73125627	0.95[EUR][1000 genomes]
rs73125637	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73127647	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7377825	0.83[EUR][1000 genomes]
rs741180	0.88[EUR][1000 genomes]
rs7661102	0.87[EUR][1000 genomes]
rs7665390	0.88[EUR][1000 genomes]
rs7665915	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7682586	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7687010	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs872678	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3464809	chr4:15646178-15656952	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3464811	chr4:15646243-15656896	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3464810	chr4:15646249-15656868	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3464812	chr4:15646332-15656829	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
6	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
9	chr4:15628000-15655600	Weak transcription	Lung	lung
10	chr4:15635600-15655600	Weak transcription	Esophagus	oesophagus
11	chr4:15635800-15654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:15636800-15651400	Weak transcription	Hela-S3	cervix
13	chr4:15638600-15651400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:15638800-15651600	Weak transcription	NHLF	lung
15	chr4:15638800-15655000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:15640400-15651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:15641600-15651400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:15641800-15651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:15641800-15653600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:15642000-15651400	Weak transcription	HepG2	liver
21	chr4:15642000-15651800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:15642000-15652600	Weak transcription	Fetal Brain Female	brain
23	chr4:15642000-15653200	Weak transcription	Fetal Stomach	stomach
24	chr4:15642000-15655200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:15642000-15656200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:15642400-15651400	Weak transcription	Primary B cells from cord blood	blood
27	chr4:15642400-15651400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:15642400-15651800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:15642400-15652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:15642400-15653000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:15642600-15651400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:15642600-15651600	Weak transcription	HUVEC	blood vessel
33	chr4:15643200-15652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:15643400-15651400	Weak transcription	NH-A	brain
35	chr4:15643400-15651600	Weak transcription	HSMMtube	muscle
36	chr4:15643600-15651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:15643600-15651200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:15643600-15651400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:15643600-15651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:15643600-15651400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:15643600-15652600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:15643600-15652800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:15643600-15653400	Weak transcription	Thymus	Thymus
44	chr4:15643600-15653600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:15643600-15654800	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:15643600-15655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:15643800-15651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:15643800-15651400	Weak transcription	HMEC	breast
49	chr4:15643800-15651400	Weak transcription	NHDF-Ad	bronchial
50	chr4:15643800-15651600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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