Variant report

Variant	rs2074866
Chromosome Location	chr7:12680454-12680455
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	chr7:12676312..12680625-chr7:12682268..12685378,4	K562	blood:
2	chr7:12677578..12680640-chr7:12725514..12728690,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2529780	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2529781	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2529786	0.83[ASW][hapmap];1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529787	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691811	0.95[CEU][hapmap];0.85[CHB][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691812	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691813	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691814	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691816	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708655	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708659	0.81[GIH][hapmap]
rs2708660	0.81[GIH][hapmap]
rs740415	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12675800-12686000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
5	chr7:12676000-12682400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:12677800-12681000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:12678000-12687000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:12678200-12680600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:12678200-12682600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:12678200-12683200	Weak transcription	K562	blood
11	chr7:12678200-12687000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:12678400-12683000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:12678400-12683200	Weak transcription	Lung	lung
14	chr7:12678600-12685800	Weak transcription	Stomach Mucosa	stomach
15	chr7:12678800-12681600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:12679000-12682400	Weak transcription	HSMMtube	muscle
17	chr7:12679000-12682400	Weak transcription	Osteobl	bone
18	chr7:12679000-12683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:12679000-12683000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:12679000-12685800	Weak transcription	Hela-S3	cervix
21	chr7:12679000-12688600	Weak transcription	Fetal Kidney	kidney
22	chr7:12679000-12693800	Weak transcription	Colonic Mucosa	Colon
23	chr7:12679200-12682800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:12679200-12683000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:12679200-12683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:12679400-12682200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:12679400-12686200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:12679800-12685400	Weak transcription	A549	lung
29	chr7:12680000-12681000	Genic enhancers	Placenta	Placenta
30	chr7:12680200-12681200	Strong transcription	Brain Anterior Caudate	brain
31	chr7:12680200-12683600	Enhancers	HepG2	liver
32	chr7:12680400-12680600	Genic enhancers	Fetal Stomach	stomach
33	chr7:12680400-12680800	Enhancers	Fetal Thymus	thymus
34	chr7:12680400-12681000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:12680400-12681000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:12680400-12682400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:12680400-12683600	Strong transcription	Rectal Mucosa Donor 29	rectum

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