Variant report

Variant	rs12534637
Chromosome Location	chr7:66327654-66327655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66325849..66328663-chr7:66331139..66332662,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10234018	0.85[CHB][hapmap];0.95[YRI][hapmap]
rs10252765	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs10807707	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1553610	0.86[CHB][hapmap];1.00[YRI][hapmap]
rs1830070	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244022	0.95[YRI][hapmap]
rs2707845	0.86[CHB][hapmap];1.00[YRI][hapmap]
rs2707852	0.81[CHB][hapmap];0.92[YRI][hapmap]
rs2707853	0.86[CHB][hapmap];0.96[YRI][hapmap]
rs2707854	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs2707856	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs3778909	0.88[AFR][1000 genomes]
rs3800812	0.86[CHB][hapmap];1.00[YRI][hapmap]
rs3800820	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs4236209	0.85[EUR][1000 genomes]
rs4717319	0.80[AFR][1000 genomes]
rs4718403	0.82[AFR][1000 genomes]
rs4718421	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4718428	0.95[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6460317	0.93[EUR][1000 genomes]
rs6958520	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs6971897	0.92[EUR][1000 genomes]
rs868961	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12534637	RP4-756H11.3	cis	Thyroid	GTEx
rs12534637	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs12534637	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs12534637	RP4-756H11.3	cis	lung	GTEx
rs12534637	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs12534637	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs12534637	RP4-756H11.3	cis	Artery Aorta	GTEx
rs12534637	RP4-756H11.3	cis	Artery Tibial	GTEx
rs12534637	RP4-756H11.3	cis	Nerve Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
2	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66310800-66331600	Weak transcription	Ovary	ovary
4	chr7:66311000-66329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:66311000-66332600	Weak transcription	Colonic Mucosa	Colon
6	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
8	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
10	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:66311200-66343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:66311600-66334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:66313600-66332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:66313800-66330200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:66313800-66331400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:66313800-66331800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:66313800-66332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:66313800-66332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:66313800-66336000	Weak transcription	HMEC	breast
22	chr7:66314400-66342800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:66319200-66330800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:66320400-66329400	Weak transcription	Fetal Thymus	thymus
27	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
28	chr7:66321600-66331400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:66321800-66337400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:66322000-66330200	Strong transcription	Liver	Liver
31	chr7:66322400-66342600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:66322800-66331000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:66323400-66333400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:66323600-66328400	Strong transcription	Primary T cells from cord blood	blood
36	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:66325200-66331600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:66325200-66334200	Weak transcription	GM12878-XiMat	blood
39	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
40	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:66325400-66351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
44	chr7:66325600-66331800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:66325600-66332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:66325600-66334400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:66325600-66345200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:66325600-66359000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
50	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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