Variant report

Variant	rs2386664
Chromosome Location	chr10:5847497-5847498
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5841980..5844348-chr10:5846040..5847807,2	MCF-7	breast:
2	chr10:5831602..5838072-chr10:5842540..5850784,8	MCF-7	breast:
3	chr10:5846433..5848237-chr10:5929478..5933162,3	MCF-7	breast:
4	chr10:5814760..5816302-chr10:5847471..5849334,2	K562	blood:

Variant related genes	Relation type
ENSG00000134452	Chromatin interaction
ENSG00000134461	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1057943	0.83[EUR][1000 genomes]
rs11592993	0.83[EUR][1000 genomes]
rs11593876	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11594505	0.83[EUR][1000 genomes]
rs11594846	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11595421	0.85[EUR][1000 genomes]
rs11596702	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11599810	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2386620	0.95[EUR][1000 genomes]
rs2797484	0.93[EUR][1000 genomes]
rs2797501	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736460	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs45549643	0.85[EUR][1000 genomes]
rs56352451	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59758327	0.80[EUR][1000 genomes]
rs61016063	0.82[ASN][1000 genomes]
rs61832759	0.83[EUR][1000 genomes]
rs61832860	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61832863	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61832864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61832865	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61832866	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61832870	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832872	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832874	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61836362	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7076584	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7093027	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72772369	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72774084	0.86[EUR][1000 genomes]
rs7475869	0.83[EUR][1000 genomes]
rs7900361	0.82[ASN][1000 genomes]
rs7902987	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv515935	chr10:5820394-5869839	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv549896	chr10:5820394-5880066	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:5818000-5854200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:5827800-5848800	Weak transcription	Stomach Mucosa	stomach
4	chr10:5827800-5851200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:5832000-5848000	Weak transcription	Fetal Heart	heart
6	chr10:5834600-5853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr10:5837800-5854200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:5838000-5851400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:5838600-5851200	Weak transcription	Brain Angular Gyrus	brain
10	chr10:5838600-5851400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:5838800-5848800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:5838800-5849400	Weak transcription	Brain Substantia Nigra	brain
13	chr10:5838800-5851600	Weak transcription	Fetal Brain Male	brain
14	chr10:5840600-5851800	Weak transcription	Colonic Mucosa	Colon
15	chr10:5840800-5851600	Weak transcription	Fetal Kidney	kidney
16	chr10:5841400-5851400	Weak transcription	Aorta	Aorta
17	chr10:5841400-5851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:5841400-5853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:5841600-5848800	Weak transcription	Right Ventricle	heart
20	chr10:5841600-5848800	Weak transcription	Spleen	Spleen
21	chr10:5841600-5849600	Weak transcription	Lung	lung
22	chr10:5841600-5851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr10:5841600-5853400	Weak transcription	Esophagus	oesophagus
24	chr10:5841800-5847600	Weak transcription	Left Ventricle	heart
25	chr10:5841800-5851200	Weak transcription	Brain Germinal Matrix	brain
26	chr10:5842000-5851200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:5842400-5851400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:5842600-5847600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:5842600-5847600	Weak transcription	NH-A	brain
30	chr10:5842600-5848000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:5842600-5848200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:5842600-5848600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:5842600-5848800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:5842600-5849400	Weak transcription	Fetal Brain Female	brain
35	chr10:5842600-5850000	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:5842600-5851400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:5842600-5851600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:5842600-5853200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:5842600-5853200	Weak transcription	HSMMtube	muscle
40	chr10:5842800-5848600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:5842800-5848800	Weak transcription	Fetal Lung	lung
42	chr10:5842800-5848800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr10:5842800-5849200	Weak transcription	NHDF-Ad	bronchial
44	chr10:5842800-5849400	Weak transcription	HUVEC	blood vessel
45	chr10:5842800-5849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:5842800-5850800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:5842800-5851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:5843000-5847600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr10:5843000-5847600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr10:5843200-5851400	Weak transcription	NHLF	lung

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