Variant report

Variant	rs12706136
Chromosome Location	chr7:116660614-116660615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116593241..116595466-chr7:116660192..116661837,2	K562	blood:
2	chr7:116591200..116595164-chr7:116659811..116663168,5	K562	blood:
3	chr7:116592302..116594663-chr7:116658883..116661789,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-2	chr7:116660313-116660683	NONHSAT122921
2	lnc-CAPZA2-2	chr7:116660272-116660683	NONHSAT122920

Variant related genes	Relation type
ENSG00000227199	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11762032	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11764134	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773591	0.85[ASN][1000 genomes]
rs12706124	0.82[EUR][1000 genomes]
rs12706125	0.83[EUR][1000 genomes]
rs12706126	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706127	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12706134	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706135	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706137	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706138	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706139	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706140	0.83[ASN][1000 genomes]
rs12706141	0.83[ASN][1000 genomes]
rs13222576	0.86[ASN][1000 genomes]
rs13222912	0.83[ASN][1000 genomes]
rs13235739	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13239447	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13243111	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13308921	0.83[ASN][1000 genomes]
rs34042687	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66758829	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71544773	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116655000-116660800	Weak transcription	Small Intestine	intestine
2	chr7:116655600-116663000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:116655800-116662800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:116657400-116663000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:116658400-116662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:116659600-116660800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:116659600-116661000	Flanking Active TSS	K562	blood
8	chr7:116659600-116663000	Active TSS	Brain Anterior Caudate	brain
9	chr7:116659600-116663400	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:116659800-116661000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:116659800-116661000	Active TSS	A549	lung
12	chr7:116659800-116661000	Flanking Active TSS	HMEC	breast
13	chr7:116659800-116661400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:116659800-116661400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:116659800-116661400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:116659800-116662800	Active TSS	Fetal Brain Male	brain
17	chr7:116660000-116660800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:116660000-116660800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:116660000-116660800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:116660000-116660800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:116660000-116660800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:116660000-116660800	Active TSS	Brain Angular Gyrus	brain
23	chr7:116660000-116660800	Active TSS	Brain Substantia Nigra	brain
24	chr7:116660000-116660800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:116660000-116660800	Flanking Active TSS	Osteobl	bone
26	chr7:116660000-116661000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:116660000-116661000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:116660000-116661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:116660000-116661000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:116660000-116661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:116660000-116661000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:116660000-116661000	Flanking Active TSS	HUVEC	blood vessel
33	chr7:116660000-116661000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr7:116660000-116661200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:116660000-116661200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:116660000-116661400	Active TSS	Fetal Kidney	kidney
37	chr7:116660000-116661800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:116660000-116662000	Active TSS	Fetal Stomach	stomach
39	chr7:116660000-116663600	Active TSS	Aorta	Aorta
40	chr7:116660000-116663600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:116660000-116663800	Active TSS	Brain Hippocampus Middle	brain
42	chr7:116660000-116664400	Active TSS	Fetal Brain Female	brain
43	chr7:116660200-116660800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:116660200-116660800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:116660200-116661000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:116660200-116661000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:116660200-116661000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:116660200-116661000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:116660200-116661000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:116660200-116661000	Active TSS	Colon Smooth Muscle	Colon

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