Variant report

Variant	rs1522279
Chromosome Location	chr7:22377636-22377637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10226205	0.83[ASW][hapmap];0.93[CEU][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];0.83[EUR][1000 genomes]
rs55847645	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1792359	chr7:22377636-22391198	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1522279	BMP8B	trans	cerebellum	SCAN
rs1522279	NPVF	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:22370000-22383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:22370000-22384000	Weak transcription	Spleen	Spleen
4	chr7:22370200-22390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:22370400-22380200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:22370800-22384000	Weak transcription	Left Ventricle	heart
7	chr7:22372200-22383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:22372600-22384400	Weak transcription	NHEK	skin
9	chr7:22373400-22379200	Genic enhancers	HepG2	liver
10	chr7:22373400-22381400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:22373400-22384400	Weak transcription	Thymus	Thymus
12	chr7:22373800-22378400	Weak transcription	Lung	lung
13	chr7:22373800-22380400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:22373800-22383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:22374800-22378200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:22374800-22378400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:22374800-22378600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:22374800-22380200	Weak transcription	Fetal Intestine Large	intestine
19	chr7:22375200-22378200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:22375200-22378600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:22375200-22378600	Weak transcription	K562	blood
22	chr7:22375200-22381400	Weak transcription	Esophagus	oesophagus
23	chr7:22375400-22380000	Weak transcription	Stomach Mucosa	stomach
24	chr7:22375600-22378800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:22376400-22379400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:22376800-22378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:22376800-22379000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:22377000-22378400	Weak transcription	Pancreas	Pancrea
29	chr7:22377000-22379400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:22377200-22378400	Weak transcription	Fetal Thymus	thymus
31	chr7:22377200-22380200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:22377200-22386600	Enhancers	Liver	Liver
33	chr7:22377400-22377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:22377400-22379200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:22377400-22379600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:22377600-22378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:22377600-22379000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links