Variant report

Variant	rs12666563
Chromosome Location	chr7:87540157-87540158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87539510..87541077-chr7:87544121..87546531,2	K562	blood:
2	chr7:87534939..87537364-chr7:87538795..87541738,4	K562	blood:
3	chr7:87537825..87540593-chr7:87542294..87543828,2	K562	blood:
4	chr7:87538165..87540523-chr7:87541875..87543442,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10486998	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12666125	1.00[AMR][1000 genomes]
rs12666742	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12667129	1.00[AMR][1000 genomes]
rs12668088	1.00[AMR][1000 genomes]
rs12669259	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12670317	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12670560	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12674310	1.00[AMR][1000 genomes]
rs16885871	1.00[AMR][1000 genomes]
rs17146782	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17146787	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17149866	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17149905	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17149907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17149925	0.89[ASN][1000 genomes]
rs17149933	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17149957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17149966	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17150051	0.97[ASN][1000 genomes]
rs17150134	1.00[AMR][1000 genomes]
rs2188829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2237536	1.00[AMR][1000 genomes]
rs2237538	1.00[AMR][1000 genomes]
rs2282944	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2282945	1.00[AMR][1000 genomes]
rs2282946	1.00[AMR][1000 genomes]
rs2285648	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2299191	1.00[AMR][1000 genomes]
rs28381715	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28505129	0.83[AFR][1000 genomes]
rs3213633	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35229105	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36187880	1.00[AMR][1000 genomes]
rs3747802	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3810881	1.00[AMR][1000 genomes]
rs4728719	1.00[AMR][1000 genomes]
rs4728721	1.00[AMR][1000 genomes]
rs4728723	1.00[AMR][1000 genomes]
rs4728728	1.00[AMR][1000 genomes]
rs4728729	1.00[AMR][1000 genomes]
rs971485	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs973445	0.97[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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:87529400-87547800	Weak transcription	NHEK	skin
3	chr7:87530200-87540200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:87532600-87541600	Weak transcription	HUVEC	blood vessel
5	chr7:87534400-87541800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:87535000-87540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:87535000-87543000	Weak transcription	HSMM	muscle
8	chr7:87535800-87540200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:87535800-87540400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:87535800-87541400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:87535800-87547800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:87536800-87540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:87537200-87540800	Weak transcription	HMEC	breast
14	chr7:87537200-87547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:87537400-87540200	Weak transcription	GM12878-XiMat	blood
16	chr7:87537400-87540600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:87537400-87541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:87537400-87541400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:87538000-87541400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:87538000-87541600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:87538200-87540800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:87538400-87540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:87538600-87540400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:87538600-87540400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:87538600-87540400	Weak transcription	Fetal Thymus	thymus
26	chr7:87538600-87544200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:87539000-87540600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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