Variant report

Variant	rs2765074
Chromosome Location	chr13:48731503-48731504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48730571..48732164-chr13:48738258..48740910,2	K562	blood:
2	chr13:48730879..48733755-chr13:48736482..48738295,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1749976	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925747	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2182220	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2406802	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406804	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765075	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942753	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4942754	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942757	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs607954	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329629	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7988534	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7989671	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7993868	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7994141	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7995410	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534969	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534978	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9534979	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534983	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534988	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2765074	SERP2	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48717400-48733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:48726200-48731600	Enhancers	Placenta	Placenta
4	chr13:48726400-48733600	Weak transcription	Esophagus	oesophagus
5	chr13:48726400-48735400	Weak transcription	Lung	lung
6	chr13:48726600-48731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:48726600-48732000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr13:48728400-48731600	Enhancers	Primary T cells from cord blood	blood
9	chr13:48728600-48733600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:48728600-48735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:48729200-48733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:48729400-48734000	Enhancers	Fetal Thymus	thymus
13	chr13:48730400-48732400	Weak transcription	A549	lung
14	chr13:48730400-48733400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:48730400-48735400	Enhancers	Primary B cells from cord blood	blood
16	chr13:48730600-48732400	Weak transcription	HSMM	muscle
17	chr13:48730600-48733400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:48730600-48733600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:48730800-48732000	Weak transcription	Stomach Mucosa	stomach
20	chr13:48730800-48732200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:48730800-48732200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:48730800-48732400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:48730800-48732400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:48730800-48732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:48730800-48732400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:48730800-48732400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:48730800-48732400	Enhancers	NHEK	skin
28	chr13:48730800-48733200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:48730800-48733600	Weak transcription	Small Intestine	intestine
30	chr13:48730800-48734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr13:48730800-48734600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:48730800-48734800	Weak transcription	K562	blood
33	chr13:48730800-48735400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:48731000-48731600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr13:48731000-48732200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr13:48731000-48732200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:48731000-48732400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:48731000-48732400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:48731000-48732400	Weak transcription	Adipose Nuclei	Adipose
40	chr13:48731000-48732400	Weak transcription	Thymus	Thymus
41	chr13:48731000-48732400	Weak transcription	GM12878-XiMat	blood
42	chr13:48731000-48732600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:48731000-48732800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr13:48731000-48733400	Weak transcription	NH-A	brain
45	chr13:48731000-48733800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr13:48731000-48733800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:48731000-48734000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:48731000-48734200	Weak transcription	HUVEC	blood vessel
49	chr13:48731000-48734800	Weak transcription	Brain Anterior Caudate	brain
50	chr13:48731000-48734800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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