Variant report

Variant	rs12700681
Chromosome Location	chr7:25985663-25985664
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	chr7:25966171..25969818-chr7:25984590..25987095,3	K562	blood:
2	chr7:25984959..25986620-chr7:25988957..25990979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199085	Chromatin interaction
ENSG00000270933	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11760762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700679	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700680	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223134	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13226851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231897	1.00[ASN][1000 genomes]
rs17729097	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391175	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336240	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4000713	0.82[ASN][1000 genomes]
rs4236321	1.00[ASN][1000 genomes]
rs4412274	1.00[ASN][1000 genomes]
rs4422683	1.00[ASN][1000 genomes]
rs4640955	1.00[ASN][1000 genomes]
rs4722545	1.00[ASN][1000 genomes]
rs4722546	1.00[ASN][1000 genomes]
rs4722547	1.00[ASN][1000 genomes]
rs4722548	1.00[ASN][1000 genomes]
rs4722551	0.93[ASN][1000 genomes]
rs66700050	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67494041	1.00[ASN][1000 genomes]
rs6977848	1.00[ASN][1000 genomes]
rs735316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810017	1.00[ASN][1000 genomes]
rs997988	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25980800-25987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:25980800-25988200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:25980800-25989200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:25980800-25989400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:25981000-25987800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:25981000-25988600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:25981000-25988800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:25981000-25989200	Weak transcription	HMEC	breast
9	chr7:25981400-25987000	Weak transcription	Fetal Thymus	thymus
10	chr7:25981600-25988800	Weak transcription	K562	blood
11	chr7:25984200-25985800	Enhancers	NHEK	skin
12	chr7:25984400-25986000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:25984400-25986000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:25984600-25986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:25984600-25989000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:25984800-25987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:25984800-25989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:25985200-25989000	Weak transcription	Small Intestine	intestine
19	chr7:25985400-25985800	Enhancers	Fetal Lung	lung
20	chr7:25985400-25985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:25985400-25987200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:25985400-25987400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:25985400-25987400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:25985400-25987800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:25985400-25988400	Weak transcription	Stomach Mucosa	stomach
26	chr7:25985600-25987200	Weak transcription	Pancreas	Pancrea
27	chr7:25985600-25987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:25985600-25988200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:25985600-25988800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:25985600-25989200	Weak transcription	Fetal Stomach	stomach
31	chr7:25985600-25989400	Weak transcription	Esophagus	oesophagus
32	chr7:25985600-25989400	Weak transcription	Gastric	stomach

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