Variant report

Variant	rs1048531
Chromosome Location	chr7:128098071-128098072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128094251..128097600-chr7:128097947..128102494,8	K562	blood:
2	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
3	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
4	chr7:128070340..128071535-chr7:128097931..128098830,5	MCF-7	breast:
5	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
6	chr7:128070575..128071502-chr7:128097598..128098175,2	MCF-7	breast:
7	chr7:128083543..128086432-chr7:128097043..128099025,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HILPDA-1	chr7:128097901-128098472	NONHSAT123193
2	lnc-HILPDA-1	chr7:128097908-128098469	NONHSAT123194

No data

Variant related genes	Relation type
ENSG00000106348	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000273184	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10954185	0.90[AMR][1000 genomes]
rs11763326	0.92[CEU][hapmap];0.87[AMR][1000 genomes]
rs11764599	0.82[AMR][1000 genomes]
rs11766743	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes]
rs11769087	0.90[AMR][1000 genomes]
rs11769168	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11771063	0.87[AMR][1000 genomes]
rs11771514	0.87[AMR][1000 genomes]
rs12532613	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12540762	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12540808	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17627068	0.90[ASN][1000 genomes]
rs1864232	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288550	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs2288554	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35501542	0.87[AMR][1000 genomes]
rs3793164	0.87[AMR][1000 genomes]
rs4500030	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4728114	0.83[ASN][1000 genomes]
rs55706726	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57124454	0.87[AMR][1000 genomes]
rs57715170	0.90[AMR][1000 genomes]
rs58727049	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59027033	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59665775	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62481099	0.87[AMR][1000 genomes]
rs62481100	0.87[AMR][1000 genomes]
rs62481103	0.87[AMR][1000 genomes]
rs62481115	0.84[AMR][1000 genomes]
rs62481116	0.87[AMR][1000 genomes]
rs62481123	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62481124	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62481131	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62481140	0.90[ASN][1000 genomes]
rs73463119	0.82[AFR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1048531	GPR37	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128098600	Weak transcription	Small Intestine	intestine
2	chr7:128096400-128099600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:128096400-128116400	Weak transcription	Lung	lung
4	chr7:128096600-128098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:128096600-128099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:128096600-128099200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:128096600-128099200	Weak transcription	Colonic Mucosa	Colon
8	chr7:128096600-128099400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:128096800-128098600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:128096800-128098600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:128096800-128098600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:128096800-128099000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:128096800-128099200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:128096800-128099600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:128096800-128099600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:128096800-128099600	Weak transcription	Psoas Muscle	Psoas
17	chr7:128096800-128099800	Weak transcription	Right Atrium	heart
18	chr7:128096800-128101400	Weak transcription	HSMMtube	muscle
19	chr7:128097000-128098400	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr7:128097000-128099000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:128097000-128099000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr7:128097200-128098200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:128097200-128098200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:128097200-128098200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:128097200-128098400	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
26	chr7:128097200-128098400	Genic enhancers	Fetal Intestine Large	intestine
27	chr7:128097200-128098400	Genic enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:128097200-128098600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
29	chr7:128097200-128098600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr7:128097200-128098800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:128097200-128098800	Genic enhancers	Fetal Thymus	thymus
32	chr7:128097200-128099000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:128097200-128099000	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:128097200-128099200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:128097200-128099200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:128097200-128099200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
37	chr7:128097200-128099200	Transcr. at gene 5' and 3'	A549	lung
38	chr7:128097200-128099200	Weak transcription	NHDF-Ad	bronchial
39	chr7:128097200-128099600	Weak transcription	Ovary	ovary
40	chr7:128097200-128099600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:128097200-128100200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:128097400-128098200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:128097400-128098200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:128097400-128098200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:128097400-128098200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:128097400-128098200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:128097400-128098200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:128097400-128098400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:128097400-128098400	Strong transcription	Fetal Intestine Small	intestine
50	chr7:128097400-128098600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links