Variant report

Variant	rs72774688
Chromosome Location	chr5:99873521-99873522
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	STAT3	chr5:99873138-99873669	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr5:99873158-99873648	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:99872834-99873577	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99872854..99874470-chr5:99877624..99879735,2	K562	blood:
2	chr5:99871520..99873605-chr5:99874648..99876676,2	MCF-7	breast:
3	chr5:99870165..99872574-chr5:99872902..99874413,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247877	TF binding region
ENSG00000174132	Chromatin interaction
ENSG00000247877	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10043796	1.00[ASN][1000 genomes]
rs10044020	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053309	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054480	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054650	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491366	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179756	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17447382	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774525	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993517	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036562	1.00[ASN][1000 genomes]
rs34462099	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34550123	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35068466	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3911547	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825520	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55895019	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68104976	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6869843	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871027	0.87[ASN][1000 genomes]
rs6872159	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874840	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879886	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890035	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892505	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898051	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714303	0.86[AMR][1000 genomes]
rs9327206	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759359	chr5:99207674-99883371	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2757124	chr5:99424756-99883371	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv882461	chr5:99745767-99927338	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1025132	chr5:99745775-99896429	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1025890	chr5:99745775-99936186	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv882463	chr5:99784116-99898851	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv882464	chr5:99784116-99905367	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv882465	chr5:99784116-99927338	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99870000-99874000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:99870200-99873800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:99870400-99873600	Active TSS	NHEK	skin
4	chr5:99871800-99874400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:99871800-99886400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:99871800-99886400	Weak transcription	Lung	lung
7	chr5:99871800-99886800	Weak transcription	Pancreas	Pancrea
8	chr5:99871800-99889400	Weak transcription	Spleen	Spleen
9	chr5:99871800-99890200	Weak transcription	Gastric	stomach
10	chr5:99872000-99873600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:99872000-99873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:99872000-99873800	Enhancers	Brain Substantia Nigra	brain
13	chr5:99872000-99873800	Weak transcription	Stomach Mucosa	stomach
14	chr5:99872000-99875000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:99872000-99881800	Weak transcription	Left Ventricle	heart
16	chr5:99872200-99873800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:99872200-99874200	Enhancers	Fetal Brain Male	brain
18	chr5:99872200-99875000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:99872400-99873600	Enhancers	Brain Germinal Matrix	brain
20	chr5:99872400-99873800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:99872400-99874000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:99872400-99874600	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:99872400-99874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:99872400-99875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:99872400-99875800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:99872400-99876600	Weak transcription	Esophagus	oesophagus
27	chr5:99872400-99886200	Weak transcription	Small Intestine	intestine
28	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
29	chr5:99872600-99873800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:99872600-99874000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr5:99872600-99874000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:99872600-99874000	Enhancers	Liver	Liver
33	chr5:99872600-99881800	Weak transcription	Right Atrium	heart
34	chr5:99872600-99886400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:99872600-99922800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:99872800-99873600	Weak transcription	Brain Angular Gyrus	brain
37	chr5:99872800-99873800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:99872800-99873800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:99872800-99873800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:99872800-99874000	Enhancers	Adipose Nuclei	Adipose
41	chr5:99872800-99874000	Enhancers	Brain Anterior Caudate	brain
42	chr5:99872800-99874000	Enhancers	Fetal Intestine Small	intestine
43	chr5:99872800-99874200	Weak transcription	Fetal Brain Female	brain
44	chr5:99872800-99874800	Weak transcription	HMEC	breast
45	chr5:99872800-99875200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:99872800-99876400	Weak transcription	Psoas Muscle	Psoas
47	chr5:99872800-99879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:99872800-99886200	Weak transcription	HSMMtube	muscle
49	chr5:99872800-99886200	Weak transcription	Osteobl	bone
50	chr5:99872800-99886400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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