Variant report

Variant	rs187274
Chromosome Location	chr5:40840987-40840988
allele	G/T
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	FOSL2	chr5:40840915-40841861	A549	lung:	n/a	n/a
2	EP300	chr5:40840695-40842264	GM12878	blood:	n/a	chr5:40841444-40841458
3	IRF1	chr5:40840735-40842801	K562	blood:	n/a	chr5:40842227-40842238 chr5:40842228-40842241 chr5:40842677-40842690 chr5:40842226-40842240 chr5:40841820-40841834 chr5:40842228-40842239 chr5:40842229-40842239 chr5:40842227-40842241
4	CUX1	chr5:40840765-40842688	K562	blood:	n/a	n/a
5	FOXA1	chr5:40840641-40841074	HepG2	liver:	n/a	n/a
6	MXI1	chr5:40840879-40842068	K562	blood:	n/a	n/a
7	ARID3A	chr5:40840793-40842333	K562	blood:	n/a	n/a
8	BACH1	chr5:40840846-40841353	K562	blood:	n/a	n/a
9	MAFF	chr5:40840852-40842258	K562	blood:	n/a	chr5:40841693-40841711
10	RFX5	chr5:40840591-40841109	K562	blood:	n/a	n/a
11	MAFK	chr5:40840900-40842197	Hela-S3	cervix:	n/a	chr5:40841333-40841350 chr5:40841796-40841811 chr5:40841694-40841709
12	JUND	chr5:40840834-40842254	K562	blood:	n/a	n/a
13	EP300	chr5:40840729-40842202	K562	blood:	n/a	chr5:40841444-40841458
14	MAFK	chr5:40840919-40841896	K562	blood:	n/a	chr5:40841333-40841350 chr5:40841796-40841811 chr5:40841694-40841709
15	GATA1	chr5:40840915-40842360	PBDE	blood:	n/a	chr5:40842239-40842255 chr5:40842239-40842255 chr5:40842237-40842258 chr5:40841850-40841861
16	NR2F2	chr5:40840937-40841883	K562	blood:	n/a	n/a
17	POLR2A	chr5:40840984-40842194	MCF10A-Er-Src	breast:	n/a	n/a
18	MAZ	chr5:40840892-40841906	K562	blood:	n/a	chr5:40841799-40841809
19	TBL1XR1	chr5:40840933-40842289	K562	blood:	n/a	n/a
20	POLR2A	chr5:40840839-40841979	MCF10A-Er-Src	breast:	n/a	n/a
21	IRF1	chr5:40840881-40842587	K562	blood:	n/a	chr5:40842227-40842238 chr5:40842228-40842241 chr5:40842226-40842240 chr5:40841820-40841834 chr5:40842228-40842239 chr5:40842229-40842239 chr5:40842227-40842241

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40755529..40757855-chr5:40840073..40841871,2	K562	blood:
2	chr5:40755529..40757354-chr5:40840291..40841871,2	K562	blood:

Variant related genes	Relation type
CARD6	TF binding region
ENSG00000113638	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10064232	0.88[ASN][1000 genomes]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1097604	0.94[ASN][1000 genomes]
rs152374	1.00[JPT][hapmap]
rs1530811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs154273	0.88[ASN][1000 genomes]
rs154274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs154276	1.00[JPT][hapmap]
rs154278	1.00[JPT][hapmap]
rs154282	1.00[JPT][hapmap]
rs154283	1.00[JPT][hapmap]
rs1631661	0.88[ASN][1000 genomes]
rs166282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1697929	0.94[ASN][1000 genomes]
rs1697937	0.94[ASN][1000 genomes]
rs1833892	0.88[ASN][1000 genomes]
rs184436	0.94[ASN][1000 genomes]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2262009	0.94[ASN][1000 genomes]
rs249411	1.00[CHD][hapmap]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs323554	0.88[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs323560	0.94[ASN][1000 genomes]
rs323562	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs408238	0.88[ASN][1000 genomes]
rs418494	0.94[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs433730	0.94[ASN][1000 genomes]
rs442869	0.88[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs455519	1.00[JPT][hapmap]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463675	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs463905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs466960	0.88[ASN][1000 genomes]
rs694217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7717507	0.88[ASN][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs837381	0.94[ASN][1000 genomes]
rs837382	0.94[ASN][1000 genomes]
rs837384	0.94[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs837389	0.94[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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40835800-40841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:40836000-40841200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:40836000-40841200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:40836000-40843600	Weak transcription	Spleen	Spleen
5	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
6	chr5:40836200-40841000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:40836200-40841000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:40836200-40841200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:40836400-40841000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:40836400-40841000	Weak transcription	Right Ventricle	heart
11	chr5:40836400-40841200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:40836400-40841200	Weak transcription	Fetal Thymus	thymus
13	chr5:40836400-40841200	Weak transcription	Left Ventricle	heart
14	chr5:40836400-40841200	Weak transcription	Pancreas	Pancrea
15	chr5:40836400-40841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:40836600-40841000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:40836600-40841000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:40836600-40841000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:40836600-40841000	Weak transcription	Fetal Lung	lung
20	chr5:40836600-40841000	Weak transcription	Placenta	Placenta
21	chr5:40836600-40841000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:40836600-40841000	Weak transcription	GM12878-XiMat	blood
23	chr5:40836600-40841200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:40836600-40841200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:40836600-40841200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:40836600-40841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:40836600-40841200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:40836600-40841200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:40836600-40841200	Weak transcription	HSMMtube	muscle
30	chr5:40836600-40841200	Weak transcription	NH-A	brain
31	chr5:40836800-40841000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:40836800-40841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:40836800-40841000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:40836800-40841000	Weak transcription	Liver	Liver
35	chr5:40836800-40841000	Weak transcription	Osteobl	bone
36	chr5:40836800-40841200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:40836800-40841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:40836800-40841200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:40836800-40841200	Weak transcription	HSMM	muscle
40	chr5:40837000-40841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:40837000-40841000	Weak transcription	HMEC	breast
42	chr5:40837000-40841200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:40837200-40841000	Weak transcription	Stomach Mucosa	stomach
44	chr5:40837200-40841000	Weak transcription	NHEK	skin
45	chr5:40837400-40841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:40838200-40841000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:40838800-40841000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:40839000-40841000	Weak transcription	Primary B cells from cord blood	blood
49	chr5:40839000-40841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:40839200-40841000	Weak transcription	Primary T cells fromperipheralblood	blood

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