Variant report

Variant	rs10900729
Chromosome Location	chr5:118605859-118605860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118605019..118607417-chr5:118636347..118638717,3	MCF-7	breast:
2	chr5:118604371..118606578-chr5:118640818..118642432,2	K562	blood:
3	chr5:118604371..118606788-chr5:118640818..118642448,2	K562	blood:
4	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:
5	chr5:118605299..118606814-chr5:118613006..118614761,2	K562	blood:
6	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction
ENSG00000243333	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1004531	0.99[ASN][1000 genomes]
rs12054902	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7704111	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118603000-118606400	Active TSS	GM12878-XiMat	blood
2	chr5:118603200-118606600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118603600-118606000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr5:118603600-118606200	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:118603600-118606800	Active TSS	Placenta	Placenta
6	chr5:118603800-118606000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:118603800-118606000	Active TSS	Primary B cells from peripheral blood	blood
8	chr5:118603800-118606600	Active TSS	Thymus	Thymus
9	chr5:118603800-118606800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:118603800-118606800	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:118603800-118607000	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr5:118604000-118606000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:118604000-118606000	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr5:118604000-118606200	Active TSS	Fetal Thymus	thymus
15	chr5:118604000-118606800	Active TSS	Primary T cells fromperipheralblood	blood
16	chr5:118604000-118606800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:118604000-118607000	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr5:118604200-118606200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:118604200-118606800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr5:118604400-118608000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:118604600-118607000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr5:118604600-118607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:118604800-118606400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:118604800-118607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr5:118605000-118606400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:118605000-118608000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:118605200-118606200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr5:118605200-118606400	Flanking Active TSS	Hela-S3	cervix
31	chr5:118605200-118607000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr5:118605200-118607200	Weak transcription	Spleen	Spleen
33	chr5:118605200-118607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:118605400-118606000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:118605400-118606000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:118605400-118606000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:118605400-118606000	Enhancers	Colon Smooth Muscle	Colon
38	chr5:118605400-118606000	Enhancers	HUVEC	blood vessel
39	chr5:118605400-118606200	Enhancers	Fetal Lung	lung
40	chr5:118605400-118606200	Enhancers	HepG2	liver
41	chr5:118605400-118606600	Weak transcription	Pancreas	Pancrea
42	chr5:118605400-118606800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:118605400-118606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:118605400-118606800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr5:118605400-118606800	Weak transcription	Psoas Muscle	Psoas
46	chr5:118605400-118607000	Weak transcription	Small Intestine	intestine
47	chr5:118605400-118607200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:118605400-118607200	Weak transcription	Gastric	stomach
49	chr5:118605400-118607200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:118605400-118608000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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