Variant report

Variant	rs2056618
Chromosome Location	chr7:12677470-12677471
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	chr7:12677397..12680219-chr7:12724736..12728064,3	MCF-7	breast:
3	chr7:12676914..12680238-chr7:12726517..12729212,3	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
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]
rs10244231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11978190	0.84[EUR][1000 genomes]
rs12113631	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs12669094	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17166244	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17527572	0.80[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2056619	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2056620	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6979260	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs731257	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7797479	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663600-12677800	Weak transcription	Fetal Kidney	kidney
2	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:12664000-12677600	Weak transcription	Stomach Mucosa	stomach
4	chr7:12664000-12677800	Weak transcription	K562	blood
5	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12669400-12680000	Weak transcription	Placenta	Placenta
7	chr7:12669800-12677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:12674000-12680400	Weak transcription	Fetal Thymus	thymus
9	chr7:12675800-12677800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:12675800-12677800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:12675800-12677800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:12675800-12677800	Weak transcription	NHLF	lung
13	chr7:12675800-12678000	Weak transcription	Brain Anterior Caudate	brain
14	chr7:12675800-12686000	Weak transcription	Adipose Nuclei	Adipose
15	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
16	chr7:12676000-12677600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:12676000-12677600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:12676000-12677600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:12676000-12677800	Weak transcription	Primary B cells from cord blood	blood
20	chr7:12676000-12677800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:12676000-12677800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:12676000-12677800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:12676000-12677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:12676000-12677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:12676000-12677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:12676000-12677800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:12676000-12677800	Weak transcription	Osteobl	bone
28	chr7:12676000-12678000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:12676000-12680400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:12676000-12682400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:12676200-12677600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:12676200-12677600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:12676200-12677600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:12676200-12677600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:12676200-12677800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:12676200-12677800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:12676200-12677800	Weak transcription	NHEK	skin
38	chr7:12676200-12678400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:12676200-12678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:12676400-12677600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:12676400-12677800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:12676400-12677800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:12676400-12677800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:12677200-12677800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:12677200-12679400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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