Variant report

Variant	rs12104381
Chromosome Location	chr19:37827347-37827348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37827031-37827838	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37822549..37827431-chr19:37836072..37838954,4	MCF-7	breast:
2	chr19:37806982..37809957-chr19:37825534..37828988,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267682	TF binding region
ENSG00000181666	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1015848	0.83[EUR][1000 genomes]
rs1015849	0.83[EUR][1000 genomes]
rs1035479	0.83[EUR][1000 genomes]
rs10403582	0.81[EUR][1000 genomes]
rs10403613	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10404602	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10404920	0.90[EUR][1000 genomes]
rs10405064	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405325	0.86[EUR][1000 genomes]
rs10405407	0.93[EUR][1000 genomes]
rs10406177	0.81[EUR][1000 genomes]
rs10407084	0.83[EUR][1000 genomes]
rs10409204	0.85[EUR][1000 genomes]
rs10412043	0.94[EUR][1000 genomes]
rs10413602	0.86[EUR][1000 genomes]
rs10414904	0.93[EUR][1000 genomes]
rs10415024	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10415358	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10415937	0.93[EUR][1000 genomes]
rs10417503	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417844	0.93[EUR][1000 genomes]
rs10420430	0.86[EUR][1000 genomes]
rs10422074	0.86[EUR][1000 genomes]
rs10422423	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10422667	0.83[EUR][1000 genomes]
rs10422967	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10424574	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10426297	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10426618	0.83[EUR][1000 genomes]
rs10426666	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10426699	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12104380	0.96[EUR][1000 genomes]
rs12709812	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12709813	0.93[EUR][1000 genomes]
rs12972252	0.83[EUR][1000 genomes]
rs12979470	0.82[EUR][1000 genomes]
rs12981532	0.86[EUR][1000 genomes]
rs12982333	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13343471	0.85[EUR][1000 genomes]
rs13343485	0.89[EUR][1000 genomes]
rs13343502	0.81[EUR][1000 genomes]
rs13345116	0.93[EUR][1000 genomes]
rs13345148	0.95[EUR][1000 genomes]
rs1373991	0.93[EUR][1000 genomes]
rs1559229	0.86[EUR][1000 genomes]
rs1823061	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2112923	0.81[EUR][1000 genomes]
rs2303131	0.85[EUR][1000 genomes]
rs28402338	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28538699	0.81[EUR][1000 genomes]
rs28623164	0.82[EUR][1000 genomes]
rs2891699	0.82[EUR][1000 genomes]
rs34544865	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34603719	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35085437	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35777021	0.85[EUR][1000 genomes]
rs3745765	0.91[EUR][1000 genomes]
rs3760825	0.81[EUR][1000 genomes]
rs3803895	0.83[EUR][1000 genomes]
rs4417644	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4452075	0.87[EUR][1000 genomes]
rs4801759	0.83[EUR][1000 genomes]
rs4801803	0.81[EUR][1000 genomes]
rs4803229	0.89[EUR][1000 genomes]
rs4803347	0.93[EUR][1000 genomes]
rs4803460	0.83[EUR][1000 genomes]
rs4803539	0.83[EUR][1000 genomes]
rs4969487	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57795776	0.82[EUR][1000 genomes]
rs6508711	0.95[EUR][1000 genomes]
rs6508713	0.88[EUR][1000 genomes]
rs6508714	0.88[EUR][1000 genomes]
rs6508715	0.88[EUR][1000 genomes]
rs6508716	0.94[EUR][1000 genomes]
rs6508719	0.86[EUR][1000 genomes]
rs67293224	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713256	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7246993	0.86[EUR][1000 genomes]
rs7247259	0.93[EUR][1000 genomes]
rs7252099	0.85[EUR][1000 genomes]
rs7252325	0.82[EUR][1000 genomes]
rs7252346	0.82[EUR][1000 genomes]
rs7255407	0.82[EUR][1000 genomes]
rs7255972	0.85[EUR][1000 genomes]
rs7257495	0.95[EUR][1000 genomes]
rs7257672	0.95[EUR][1000 genomes]
rs7258692	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259968	0.95[EUR][1000 genomes]
rs7408133	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7408446	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7408563	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8109632	0.82[EUR][1000 genomes]
rs8111782	0.90[EUR][1000 genomes]
rs9304566	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9676967	0.82[EUR][1000 genomes]
rs9917081	0.89[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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37826200-37829000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:37826200-37853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:37826400-37828000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:37826400-37828000	Weak transcription	HSMM	muscle
5	chr19:37826400-37829200	Weak transcription	HSMMtube	muscle
6	chr19:37826400-37831800	Weak transcription	Ovary	ovary
7	chr19:37826400-37832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:37826400-37834600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:37826400-37835200	Weak transcription	Aorta	Aorta
10	chr19:37826400-37837800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:37826400-37838200	Weak transcription	HUVEC	blood vessel
12	chr19:37826600-37827400	Enhancers	Right Atrium	heart
13	chr19:37826600-37828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:37826600-37829400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:37826600-37830000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:37826600-37832000	Weak transcription	Primary B cells from cord blood	blood
17	chr19:37826600-37832000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:37826600-37832200	Weak transcription	NH-A	brain
19	chr19:37826600-37834200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:37826600-37834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:37826600-37834800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr19:37826600-37835600	Weak transcription	Osteobl	bone
23	chr19:37826600-37838000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:37826600-37848800	Weak transcription	Small Intestine	intestine
25	chr19:37826600-37856200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:37826800-37827600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:37826800-37827600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:37826800-37828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:37826800-37828000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:37826800-37828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:37826800-37828000	Weak transcription	Fetal Brain Male	brain
33	chr19:37826800-37828000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:37826800-37829600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:37826800-37829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:37826800-37829800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:37826800-37830600	Weak transcription	Fetal Intestine Small	intestine
38	chr19:37826800-37830800	Weak transcription	Fetal Intestine Large	intestine
39	chr19:37826800-37831200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:37826800-37831800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:37826800-37831800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:37826800-37831800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:37826800-37831800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:37826800-37832000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:37826800-37832000	Weak transcription	Thymus	Thymus
46	chr19:37826800-37832400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:37826800-37833800	Weak transcription	Adipose Nuclei	Adipose
48	chr19:37826800-37834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:37826800-37834600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:37826800-37834800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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