Variant report

Variant	rs13234689
Chromosome Location	chr7:151066541-151066542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:151066472..151067240-chr7:151145499..151146002,2	MCF-7	breast:
2	chr7:151066137..151067530-chr7:151145478..151146423,7	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12668261	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]
rs12670537	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2159158	0.88[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240629	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2302128	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2302129	0.82[CHB][hapmap]
rs35384726	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs367567	0.82[CHB][hapmap];0.80[MEX][hapmap]
rs386956	0.86[CHB][hapmap]
rs731486	0.81[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13234689	NUB1	cis	parietal	SCAN
rs13234689	NUB1	cis	cerebellum	SCAN
rs13234689	TMEM176B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151039400-151069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:151049200-151072600	Weak transcription	Fetal Brain Male	brain
3	chr7:151049400-151077000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:151049400-151078000	Weak transcription	Stomach Mucosa	stomach
5	chr7:151051200-151069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:151053800-151073000	Weak transcription	Psoas Muscle	Psoas
7	chr7:151054000-151073200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:151054200-151071800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:151055800-151069200	Weak transcription	Esophagus	oesophagus
10	chr7:151055800-151069600	Weak transcription	Gastric	stomach
11	chr7:151057600-151070600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:151058800-151066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:151058800-151069600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:151059600-151069600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:151059800-151069800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:151059800-151078000	Weak transcription	HUVEC	blood vessel
17	chr7:151060000-151066600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:151060000-151067000	Weak transcription	Colonic Mucosa	Colon
19	chr7:151060000-151068000	Weak transcription	Lung	lung
20	chr7:151060000-151068600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:151060000-151068600	Weak transcription	Aorta	Aorta
22	chr7:151060000-151069400	Weak transcription	HepG2	liver
23	chr7:151060200-151069200	Weak transcription	Brain Germinal Matrix	brain
24	chr7:151060200-151069600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:151060200-151070400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:151060400-151066600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:151060400-151067000	Weak transcription	Right Ventricle	heart
28	chr7:151060400-151068200	Weak transcription	Fetal Brain Female	brain
29	chr7:151060400-151069000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:151060400-151069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:151060800-151072800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:151061000-151070000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:151061200-151068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:151062400-151076600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:151063400-151076400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:151063400-151078400	Weak transcription	Right Atrium	heart
37	chr7:151063600-151070600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:151064200-151067000	Weak transcription	Brain Anterior Caudate	brain
39	chr7:151064200-151071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:151064400-151077800	Strong transcription	Fetal Intestine Large	intestine
41	chr7:151064600-151067800	Strong transcription	Left Ventricle	heart
42	chr7:151064600-151076200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:151064800-151068000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:151064800-151068600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:151064800-151076200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:151065000-151072800	Strong transcription	Primary B cells from cord blood	blood
47	chr7:151065200-151067200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:151065200-151067400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:151065400-151067000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr7:151065600-151066800	Weak transcription	Rectal Smooth Muscle	rectum

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