Variant report

Variant	rs11745373
Chromosome Location	chr5:41868991-41868992
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:41868980-41869218	K562	blood:	n/a	n/a
2	SMARCC2	chr5:41868977-41871753	Hela-S3	cervix:	n/a	n/a
3	HCFC1	chr5:41868929-41871750	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr5:41868971-41869116	K562	blood:	n/a	n/a
5	EP300	chr5:41868956-41869137	K562	blood:	n/a	n/a
6	ZNF384	chr5:41868666-41869353	K562	blood:	n/a	n/a
7	POLR2A	chr5:41868845-41869738	K562	blood:	n/a	n/a
8	ARID3A	chr5:41868957-41869144	K562	blood:	n/a	n/a
9	POLR2A	chr5:41868815-41871282	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:41868839-41871001	K562	blood:	n/a	n/a
11	RCOR1	chr5:41868843-41869375	K562	blood:	n/a	n/a
12	POLR2A	chr5:41868986-41870996	GM12878	blood:	n/a	n/a
13	MXI1	chr5:41868787-41871382	SK-N-SH	brain:	n/a	n/a
14	JUN	chr5:41868816-41871885	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
2	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:
3	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
4	chr5:41864208..41872390-chr5:41920936..41926995,11	K562	blood:
5	chr5:41864530..41869583-chr5:41903151..41906093,4	MCF-7	breast:

No data

Variant related genes	Relation type
OXCT1-AS1	TF binding region
ENSG00000151876	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10051322	0.93[ASN][1000 genomes]
rs10059424	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10060170	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10062703	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10064298	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10064380	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10069638	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1006996	0.90[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10070201	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10075064	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10472357	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10941557	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118104	0.91[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11738517	0.80[ASN][1000 genomes]
rs11739257	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11740524	1.00[ASN][1000 genomes]
rs11740946	0.86[ASN][1000 genomes]
rs11744279	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11744516	0.87[ASN][1000 genomes]
rs11744623	1.00[ASN][1000 genomes]
rs11747921	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1175227	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163137	0.86[ASN][1000 genomes]
rs13357951	0.93[ASN][1000 genomes]
rs13360001	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355089	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1494392	0.86[ASN][1000 genomes]
rs1508816	0.91[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533014	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871940	0.86[ASN][1000 genomes]
rs16871972	1.00[ASN][1000 genomes]
rs17739462	1.00[ASN][1000 genomes]
rs17847285	1.00[ASN][1000 genomes]
rs1876654	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2113053	0.93[ASN][1000 genomes]
rs2231910	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2231917	0.93[ASN][1000 genomes]
rs2329815	1.00[ASN][1000 genomes]
rs277406	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277407	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277414	0.90[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277416	0.90[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2910628	0.83[EUR][1000 genomes]
rs316724	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs316730	0.83[EUR][1000 genomes]
rs316751	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs316760	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33967331	0.86[ASN][1000 genomes]
rs34339137	1.00[ASN][1000 genomes]
rs34663371	1.00[ASN][1000 genomes]
rs35077044	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35154057	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35252930	0.87[ASN][1000 genomes]
rs35613904	1.00[ASN][1000 genomes]
rs4050986	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245982	0.86[ASN][1000 genomes]
rs4289604	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324728	0.91[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4957171	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957173	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957175	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957176	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957177	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957178	0.93[ASN][1000 genomes]
rs4957180	0.93[ASN][1000 genomes]
rs4957419	0.86[ASN][1000 genomes]
rs4957422	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957423	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957424	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957428	1.00[ASN][1000 genomes]
rs4957429	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957430	1.00[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957433	0.93[ASN][1000 genomes]
rs4957434	1.00[JPT][hapmap]
rs4957435	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957436	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957437	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957438	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957439	0.93[ASN][1000 genomes]
rs608902	0.83[EUR][1000 genomes]
rs622413	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs624097	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs6451581	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6451582	0.91[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66820325	1.00[ASN][1000 genomes]
rs67114999	1.00[ASN][1000 genomes]
rs676067	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881873	1.00[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746983	0.93[ASN][1000 genomes]
rs72746996	0.93[ASN][1000 genomes]
rs7712911	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7728482	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7729014	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733096	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292825	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41832800-41869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:41841800-41869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:41849800-41869000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:41850400-41869000	Weak transcription	Esophagus	oesophagus
5	chr5:41850400-41869000	Weak transcription	Fetal Heart	heart
6	chr5:41850400-41869000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:41851000-41869400	Weak transcription	Psoas Muscle	Psoas
8	chr5:41851200-41869000	Weak transcription	Stomach Mucosa	stomach
9	chr5:41852200-41869000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:41852200-41869000	Weak transcription	Gastric	stomach
11	chr5:41852200-41869000	Weak transcription	Right Ventricle	heart
12	chr5:41852200-41869200	Weak transcription	Brain Substantia Nigra	brain
13	chr5:41852400-41869000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:41852400-41869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:41853000-41869000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:41853000-41869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:41853000-41869000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:41853000-41869000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:41853200-41869200	Weak transcription	Lung	lung
20	chr5:41853200-41869400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:41853400-41869000	Weak transcription	Fetal Intestine Small	intestine
22	chr5:41853400-41869000	Weak transcription	Fetal Stomach	stomach
23	chr5:41853600-41869000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:41854200-41869200	Weak transcription	Small Intestine	intestine
25	chr5:41854200-41869200	Weak transcription	HSMM	muscle
26	chr5:41855400-41869000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:41856200-41869000	Weak transcription	Aorta	Aorta
28	chr5:41856400-41869200	Weak transcription	Fetal Intestine Large	intestine
29	chr5:41856600-41869400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:41856800-41869000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:41856800-41869000	Weak transcription	Thymus	Thymus
32	chr5:41861400-41869000	Weak transcription	Fetal Kidney	kidney
33	chr5:41861600-41869200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:41861800-41869000	Weak transcription	Brain Anterior Caudate	brain
35	chr5:41861800-41869000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:41862000-41869000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:41862000-41869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:41862000-41869000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:41862000-41869200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:41862200-41869000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:41862200-41869000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:41862200-41869000	Weak transcription	HUVEC	blood vessel
43	chr5:41862400-41869000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:41862400-41869200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:41862400-41869200	Weak transcription	Left Ventricle	heart
46	chr5:41862400-41869200	Weak transcription	Ovary	ovary
47	chr5:41862600-41869000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:41862600-41869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:41862600-41869200	Weak transcription	Primary B cells from cord blood	blood
50	chr5:41862800-41869000	Weak transcription	Primary B cells from peripheral blood	blood

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