Variant report

Variant	rs154274
Chromosome Location	chr5:40837112-40837113
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr5:40837051-40837128	K562	blood:	n/a	n/a
2	ZNF384	chr5:40837016-40837521	K562	blood:	n/a	n/a
3	POLR2A	chr5:40824315-40837212	Hela-S3	cervix:	n/a	n/a
4	ARID3A	chr5:40836995-40837230	K562	blood:	n/a	n/a
5	POLR2A	chr5:40836981-40837141	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:40823728-40837176	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:40823526-40837257	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:40753631..40759305-chr5:40833742..40838306,12	K562	blood:
2	chr5:40762484..40765387-chr5:40833487..40838148,4	K562	blood:
3	chr17:56735505..56738016-chr5:40834939..40837272,2	MCF-7	breast:
4	chr5:40795843..40803356-chr5:40833207..40837160,32	MCF-7	breast:
5	chr5:40752902..40758869-chr5:40832024..40838409,16	K562	blood:

No data

Variant related genes	Relation type
CARD6	TF binding region
SNORD72	TF binding region
RPL37	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000113638	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10064232	0.94[ASN][1000 genomes]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1097604	1.00[ASN][1000 genomes]
rs152374	1.00[JPT][hapmap]
rs1530811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154273	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	0.94[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1697929	1.00[ASN][1000 genomes]
rs1697937	1.00[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs1833892	0.94[ASN][1000 genomes]
rs184436	1.00[ASN][1000 genomes]
rs187274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2262009	1.00[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs249443	0.94[ASN][1000 genomes]
rs249444	0.94[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs323554	0.94[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs323560	1.00[ASN][1000 genomes]
rs323562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34236150	0.81[ASN][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs39794	0.94[ASN][1000 genomes]
rs408238	0.94[ASN][1000 genomes]
rs418494	1.00[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs433730	1.00[ASN][1000 genomes]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs442869	0.94[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs455519	1.00[JPT][hapmap]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs463905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs466960	0.94[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs694217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7717507	0.94[ASN][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs837381	1.00[ASN][1000 genomes]
rs837382	1.00[ASN][1000 genomes]
rs837384	1.00[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs837389	1.00[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:69 , 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	chr5:40836000-40837800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:40836000-40841200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:40836000-40841200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:40836000-40843600	Weak transcription	Spleen	Spleen
6	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
7	chr5:40836200-40837800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:40836200-40837800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:40836200-40837800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:40836200-40840800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:40836200-40841000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:40836200-40841000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:40836200-40841200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:40836400-40837800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:40836400-40839200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:40836400-40840800	Weak transcription	Primary T cells from cord blood	blood
17	chr5:40836400-40840800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:40836400-40841000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:40836400-40841000	Weak transcription	Right Ventricle	heart
20	chr5:40836400-40841200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:40836400-40841200	Weak transcription	Fetal Thymus	thymus
22	chr5:40836400-40841200	Weak transcription	Left Ventricle	heart
23	chr5:40836400-40841200	Weak transcription	Pancreas	Pancrea
24	chr5:40836400-40841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:40836600-40837200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:40836600-40837200	Enhancers	NHEK	skin
27	chr5:40836600-40837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:40836600-40838000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:40836600-40838000	Weak transcription	Adipose Nuclei	Adipose
30	chr5:40836600-40838000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:40836600-40840800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:40836600-40840800	Weak transcription	A549	lung
33	chr5:40836600-40840800	Weak transcription	HUVEC	blood vessel
34	chr5:40836600-40840800	Weak transcription	NHLF	lung
35	chr5:40836600-40841000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:40836600-40841000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:40836600-40841000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:40836600-40841000	Weak transcription	Fetal Lung	lung
39	chr5:40836600-40841000	Weak transcription	Placenta	Placenta
40	chr5:40836600-40841000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:40836600-40841000	Weak transcription	GM12878-XiMat	blood
42	chr5:40836600-40841200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:40836600-40841200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:40836600-40841200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:40836600-40841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:40836600-40841200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:40836600-40841200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:40836600-40841200	Weak transcription	HSMMtube	muscle
49	chr5:40836600-40841200	Weak transcription	NH-A	brain
50	chr5:40836800-40837200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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