Variant report

Variant	rs13171443
Chromosome Location	chr5:118649827-118649828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118322721..118325566-chr5:118647562..118649989,2	K562	blood:

Variant related genes	Relation type
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10519579	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13153732	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13164306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172873	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172935	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13180238	0.84[EUR][1000 genomes]
rs13189229	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1394630	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1465396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145124	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17145129	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17145142	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2012594	1.00[EUR][1000 genomes]
rs34016408	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34207529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34692285	1.00[EUR][1000 genomes]
rs34902535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067404	1.00[EUR][1000 genomes]
rs35113297	1.00[EUR][1000 genomes]
rs35263427	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35605034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623432	0.90[EUR][1000 genomes]
rs35834554	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35956442	1.00[EUR][1000 genomes]
rs35981322	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810506	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56840858	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57001486	0.95[EUR][1000 genomes]
rs58196366	1.00[EUR][1000 genomes]
rs59085117	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60474651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61366292	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61643326	1.00[EUR][1000 genomes]
rs6595180	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540474	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874081	1.00[EUR][1000 genomes]
rs6897744	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71585210	0.95[EUR][1000 genomes]
rs71585211	0.84[EUR][1000 genomes]
rs73252330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73791001	1.00[ASN][1000 genomes]
rs7705109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999275	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:118639200-118657200	Weak transcription	Lung	lung
3	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
5	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
12	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
13	chr5:118645000-118650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:118645000-118651200	Weak transcription	NH-A	brain
15	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:118645400-118652000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:118645400-118652000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:118645800-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:118646000-118650000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:118646000-118651400	Enhancers	Thymus	Thymus
22	chr5:118646000-118653400	Weak transcription	Spleen	Spleen
23	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:118646200-118651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:118646200-118653400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:118646400-118651000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:118646600-118650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:118646600-118651200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:118646800-118651000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:118647000-118650800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:118647000-118651200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:118647000-118651200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr5:118647000-118651600	Enhancers	Fetal Thymus	thymus
37	chr5:118648000-118653000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:118648400-118651000	Genic enhancers	Primary B cells from cord blood	blood
40	chr5:118648800-118650200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:118648800-118650200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:118648800-118651200	Enhancers	A549	lung
43	chr5:118649000-118650200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr5:118649000-118650200	Enhancers	NHLF	lung
45	chr5:118649000-118650600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:118649000-118651200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:118649000-118652400	Genic enhancers	K562	blood
48	chr5:118649200-118650000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:118649200-118650200	Enhancers	Primary T cells from cord blood	blood
50	chr5:118649200-118650200	Enhancers	Colon Smooth Muscle	Colon

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