Variant report

Variant	rs2691814
Chromosome Location	chr7:12682945-12682946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12676312..12680625-chr7:12682268..12685378,4	K562	blood:
2	chr7:12681447..12684050-chr7:12723257..12726126,2	K562	blood:
3	chr7:12678093..12680309-chr7:12682358..12684176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271253	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2074866	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]
rs2529780	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2529781	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2529786	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2529787	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691816	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2708655	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs740415	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][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:40 , 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	chr7:12678000-12687000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:12678200-12683200	Weak transcription	K562	blood
7	chr7:12678200-12687000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:12678400-12683000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:12678400-12683200	Weak transcription	Lung	lung
10	chr7:12678600-12685800	Weak transcription	Stomach Mucosa	stomach
11	chr7:12679000-12683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:12679000-12683000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:12679000-12685800	Weak transcription	Hela-S3	cervix
14	chr7:12679000-12688600	Weak transcription	Fetal Kidney	kidney
15	chr7:12679000-12693800	Weak transcription	Colonic Mucosa	Colon
16	chr7:12679200-12683000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:12679200-12683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:12679400-12686200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:12679800-12685400	Weak transcription	A549	lung
20	chr7:12680200-12683600	Enhancers	HepG2	liver
21	chr7:12680400-12683600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr7:12681000-12683200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:12681000-12685800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:12681000-12685800	Weak transcription	Placenta	Placenta
25	chr7:12681000-12687000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:12681000-12688400	Weak transcription	Fetal Stomach	stomach
27	chr7:12681400-12683000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:12681400-12690800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:12682000-12684200	Strong transcription	Brain Anterior Caudate	brain
30	chr7:12682200-12683400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:12682400-12683000	Enhancers	HSMMtube	muscle
32	chr7:12682400-12683200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:12682400-12683200	Enhancers	Osteobl	bone
34	chr7:12682400-12683400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:12682400-12693400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:12682600-12683000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:12682600-12683600	Enhancers	NH-A	brain
38	chr7:12682800-12683200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:12682800-12684000	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:12682800-12687000	Weak transcription	NHDF-Ad	bronchial

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