Variant report

Variant	rs7636369
Chromosome Location	chr3:139093645-139093646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:139092666..139094303-chr3:139098082..139100914,2	K562	blood:
2	chr3:139089841..139092614-chr3:139093086..139094749,2	MCF-7	breast:
3	chr3:139091608..139097785-chr3:139099918..139103332,6	K562	blood:
4	chr3:139092808..139095647-chr3:139097281..139099201,2	MCF-7	breast:
5	chr3:139074489..139078704-chr3:139090415..139094288,5	MCF-7	breast:
6	chr3:139062942..139064575-chr3:139091516..139094448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175110	Chromatin interaction
ENSG00000184432	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10804665	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371340	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1599744	0.89[EUR][1000 genomes]
rs167186	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16849065	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16849083	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176986	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176988	0.83[EUR][1000 genomes]
rs176989	0.83[EUR][1000 genomes]
rs1873668	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs211583	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243399	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525826	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55735000	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56265838	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60144275	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61525084	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6439851	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788313	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7372667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7372737	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73868351	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7621965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9824044	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824195	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838015	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864352	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864740	0.93[AFR][1000 genomes];1.00[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	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139064400-139097200	Strong transcription	Fetal Muscle Leg	muscle
2	chr3:139064800-139094600	Strong transcription	Primary B cells from cord blood	blood
3	chr3:139065000-139096200	Strong transcription	Fetal Intestine Large	intestine
4	chr3:139065000-139101200	Strong transcription	Primary T cells from cord blood	blood
5	chr3:139065000-139103800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:139065000-139103800	Strong transcription	HSMM	muscle
7	chr3:139065000-139104000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:139065200-139096800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:139065200-139098000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:139065200-139102000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:139065200-139102200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr3:139065400-139097600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:139065400-139102200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:139065400-139102400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr3:139065400-139102600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:139065400-139102600	Strong transcription	Osteobl	bone
17	chr3:139065400-139103600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:139065400-139103800	Strong transcription	Fetal Thymus	thymus
19	chr3:139065600-139100200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:139065600-139101800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:139065600-139102400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:139065600-139102400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:139065600-139102400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr3:139065600-139103600	Strong transcription	HUVEC	blood vessel
25	chr3:139065600-139103600	Strong transcription	NH-A	brain
26	chr3:139065600-139103800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:139065600-139103800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:139065800-139095000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:139065800-139096200	Strong transcription	Liver	Liver
30	chr3:139065800-139098200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr3:139065800-139098200	Strong transcription	HMEC	breast
32	chr3:139065800-139101600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:139065800-139101600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr3:139065800-139102400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:139065800-139102400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr3:139065800-139102600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:139065800-139102800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:139065800-139103200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr3:139065800-139103600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:139065800-139104400	Strong transcription	Dnd41	blood
41	chr3:139066000-139098200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:139066000-139098200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:139066000-139101800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:139066000-139103600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:139066200-139099600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:139066200-139102400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:139066200-139103800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:139066400-139102400	Strong transcription	Placenta	Placenta
49	chr3:139067000-139098000	Strong transcription	Fetal Kidney	kidney
50	chr3:139067000-139098000	Strong transcription	Ovary	ovary

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