Variant report

Variant	rs12668261
Chromosome Location	chr7:151070531-151070532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:151068798..151071026-chr7:151072927..151076533,4	MCF-7	breast:
2	chr7:151069282..151072018-chr7:151127923..151130799,2	K562	blood:
3	chr7:151070052..151072048-chr7:151082602..151084194,2	K562	blood:
4	chr7:151070295..151074427-chr7:151076318..151079969,6	K562	blood:
5	chr7:151069077..151072018-chr7:151127923..151130145,2	K562	blood:

Variant related genes	Relation type
ENSG00000265810	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10952308	0.83[JPT][hapmap]
rs12670537	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13234689	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2159158	0.88[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240629	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302128	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35384726	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs367567	0.87[JPT][hapmap]
rs386956	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs731486	0.86[ASN][1000 genomes]
rs7778047	0.83[JPT][hapmap]

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	nsv889489	chr7:151064872-151115691	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12668261	NUB1	cis	cerebellum	SCAN
rs12668261	NUB1	Cis_1M	lymphoblastoid	RTeQTL
rs12668261	NUB1	cis	parietal	SCAN
rs12668261	TMEM176B	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151049200-151072600	Weak transcription	Fetal Brain Male	brain
2	chr7:151049400-151077000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:151049400-151078000	Weak transcription	Stomach Mucosa	stomach
4	chr7:151053800-151073000	Weak transcription	Psoas Muscle	Psoas
5	chr7:151054000-151073200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:151054200-151071800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:151057600-151070600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:151059800-151078000	Weak transcription	HUVEC	blood vessel
9	chr7:151060800-151072800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:151062400-151076600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:151063400-151076400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:151063400-151078400	Weak transcription	Right Atrium	heart
13	chr7:151063600-151070600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:151064200-151071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:151064400-151077800	Strong transcription	Fetal Intestine Large	intestine
16	chr7:151064600-151076200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr7:151064800-151076200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:151065000-151072800	Strong transcription	Primary B cells from cord blood	blood
19	chr7:151065600-151070800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:151065600-151071000	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:151065600-151071400	Weak transcription	NHEK	skin
22	chr7:151065600-151072600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:151065600-151076200	Strong transcription	Ovary	ovary
24	chr7:151065600-151076200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:151065600-151076400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:151065600-151077000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:151065600-151077000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:151065600-151077200	Strong transcription	Fetal Stomach	stomach
29	chr7:151065600-151077400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:151065600-151077800	Weak transcription	NHDF-Ad	bronchial
31	chr7:151065600-151078000	Strong transcription	Fetal Intestine Small	intestine
32	chr7:151065600-151078200	Weak transcription	NH-A	brain
33	chr7:151065800-151070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:151065800-151070600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:151065800-151070600	Weak transcription	NHLF	lung
36	chr7:151065800-151072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:151065800-151074000	Weak transcription	Fetal Kidney	kidney
38	chr7:151065800-151075800	Strong transcription	Placenta	Placenta
39	chr7:151065800-151075800	Weak transcription	HSMM	muscle
40	chr7:151065800-151076000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:151065800-151076800	Strong transcription	Liver	Liver
42	chr7:151065800-151078800	Weak transcription	Fetal Heart	heart
43	chr7:151065800-151080800	Weak transcription	HMEC	breast
44	chr7:151066000-151071200	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:151066000-151074400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:151066000-151074600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:151066000-151074800	Weak transcription	A549	lung
48	chr7:151066000-151075200	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:151066000-151076000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:151066000-151076200	Strong transcription	Primary T cells fromperipheralblood	blood

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