Variant report

Variant	rs2012594
Chromosome Location	chr5:118644406-118644407
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	NFIC	chr5:118644357-118645267	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:118644371-118645118	GM12878	blood:	n/a	n/a
3	GATA1	chr5:118644296-118645095	PBDE	blood:	n/a	chr5:118644630-118644639
4	MYC	chr5:118643624-118645017	NB4	blood:	n/a	chr5:118644179-118644188
5	TCF3	chr5:118644392-118644902	GM12878	blood:	n/a	n/a
6	NFIC	chr5:118643963-118645500	GM12878	blood:	n/a	n/a
7	FOXM1	chr5:118644363-118645138	GM12878	blood:	n/a	n/a
8	TEAD4	chr5:118644397-118645082	K562	blood:	n/a	n/a
9	MTA3	chr5:118644345-118645441	GM12878	blood:	n/a	n/a
10	MAX	chr5:118643591-118645470	NB4	blood:	n/a	chr5:118644179-118644188
11	NFATC1	chr5:118644403-118645026	GM12878	blood:	n/a	n/a
12	PML	chr5:118644336-118645213	GM12878	blood:	n/a	n/a
13	RUNX3	chr5:118644405-118645343	GM12878	blood:	n/a	chr5:118644826-118644835 chr5:118644826-118644835
14	BCLAF1	chr5:118644405-118645112	GM12878	blood:	n/a	n/a
15	IRF4	chr5:118644387-118644975	GM12878	blood:	n/a	n/a
16	IRF4	chr5:118644391-118644886	GM12878	blood:	n/a	n/a
17	ZNF384	chr5:118644350-118644810	K562	blood:	n/a	n/a
18	MAX	chr5:118644280-118645296	GM12878	blood:	n/a	n/a
19	ZNF384	chr5:118644395-118644938	GM12878	blood:	n/a	n/a
20	BATF	chr5:118644405-118644953	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118636676..118639200-chr5:118642747..118645465,2	MCF-7	breast:
2	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:
3	chr5:118642887..118645092-chr5:118652182..118653944,2	K562	blood:

Variant related genes	Relation type
RN7SL174P	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10519579	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13153732	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13164306	0.95[EUR][1000 genomes]
rs13171443	1.00[EUR][1000 genomes]
rs13172873	1.00[EUR][1000 genomes]
rs13172935	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13180238	0.84[EUR][1000 genomes]
rs13189229	1.00[EUR][1000 genomes]
rs1394630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1422012	0.83[ASN][1000 genomes]
rs1465396	1.00[EUR][1000 genomes]
rs1504979	0.83[ASN][1000 genomes]
rs17145124	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17145129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17145142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34016408	0.95[EUR][1000 genomes]
rs34207529	1.00[EUR][1000 genomes]
rs34692285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34902535	1.00[EUR][1000 genomes]
rs35067404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35113297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35263427	0.89[EUR][1000 genomes]
rs35605034	1.00[EUR][1000 genomes]
rs35623432	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35831154	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35834554	0.95[EUR][1000 genomes]
rs35956442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35981322	1.00[EUR][1000 genomes]
rs56840858	0.90[EUR][1000 genomes]
rs57001486	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58196366	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59085117	0.95[EUR][1000 genomes]
rs60474651	1.00[EUR][1000 genomes]
rs61179451	1.00[EUR][1000 genomes]
rs61366292	0.95[EUR][1000 genomes]
rs61643326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595180	0.95[EUR][1000 genomes]
rs66540474	0.95[EUR][1000 genomes]
rs67136651	1.00[EUR][1000 genomes]
rs6865343	0.90[ASN][1000 genomes]
rs6874081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6877317	0.83[ASN][1000 genomes]
rs6878373	0.83[ASN][1000 genomes]
rs6884614	0.90[ASN][1000 genomes]
rs6884625	0.90[ASN][1000 genomes]
rs6897744	1.00[EUR][1000 genomes]
rs71585210	0.95[EUR][1000 genomes]
rs71585211	0.84[EUR][1000 genomes]
rs73252330	1.00[EUR][1000 genomes]
rs7705109	0.89[EUR][1000 genomes]
rs888771	0.83[ASN][1000 genomes]
rs999275	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:118639200-118645800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:118639200-118657200	Weak transcription	Lung	lung
7	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:118639400-118644600	Weak transcription	HSMMtube	muscle
9	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
10	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
11	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118640200-118645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:118640400-118644600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:118640400-118645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
16	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:118640600-118644600	Weak transcription	HSMM	muscle
18	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:118641000-118644600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:118641000-118644600	Weak transcription	NH-A	brain
22	chr5:118641200-118649000	Weak transcription	NHLF	lung
23	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:118641400-118644600	Weak transcription	NHEK	skin
25	chr5:118641800-118644600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:118641800-118644600	Weak transcription	HMEC	breast
27	chr5:118641800-118645000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:118641800-118649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
30	chr5:118642000-118645800	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:118642000-118648800	Weak transcription	Hela-S3	cervix
32	chr5:118642800-118644600	Flanking Active TSS	Dnd41	blood
33	chr5:118643200-118644800	Enhancers	Fetal Heart	heart
34	chr5:118643600-118644600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:118643600-118644600	Enhancers	K562	blood
36	chr5:118643600-118644800	Enhancers	Adipose Nuclei	Adipose
37	chr5:118643600-118644800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:118643800-118645400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr5:118643800-118646200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr5:118644000-118644600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr5:118644000-118644600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:118644000-118645000	Enhancers	Fetal Lung	lung
43	chr5:118644000-118645200	Enhancers	Placenta	Placenta
44	chr5:118644000-118645200	Enhancers	HepG2	liver
45	chr5:118644000-118645400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr5:118644000-118645400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:118644000-118645400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr5:118644000-118645400	Enhancers	HUVEC	blood vessel
49	chr5:118644000-118645400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr5:118644000-118645600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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