Variant report

Variant	rs848531
Chromosome Location	chr2:36728442-36728443
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	chr2:36716629..36720213-chr2:36727612..36730787,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2888369	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs3770841	0.90[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs4141686	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs4670563	0.91[EUR][1000 genomes]
rs848532	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918052	0.84[CEU][hapmap]
rs955602	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3395718	chr2:36725359-36730447	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3516474	chr2:36725388-36730472	Genic enhancers Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3516475	chr2:36725403-36730432	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs848531	CCDC75	cis	parietal	SCAN
rs848531	STRBP	trans	lymphoblastoid	seeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
6	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
9	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
11	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:36717200-36733000	Genic enhancers	A549	lung
13	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:36720000-36734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:36720400-36739200	Weak transcription	Fetal Heart	heart
17	chr2:36720800-36728800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:36720800-36739200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:36721400-36737200	Strong transcription	HSMM	muscle
20	chr2:36721600-36729600	Strong transcription	NHEK	skin
21	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
22	chr2:36722200-36734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:36722400-36739800	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:36724000-36740600	Weak transcription	Psoas Muscle	Psoas
26	chr2:36724400-36731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:36725000-36734000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:36725200-36729800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:36725200-36731800	Strong transcription	HMEC	breast
30	chr2:36725200-36739200	Strong transcription	NH-A	brain
31	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:36725400-36730000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:36725400-36731400	Strong transcription	HSMMtube	muscle
34	chr2:36725400-36734800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:36725600-36729200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:36725600-36729200	Strong transcription	NHLF	lung
37	chr2:36725600-36734000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:36726000-36732400	Strong transcription	Fetal Intestine Large	intestine
39	chr2:36726200-36732000	Strong transcription	Hela-S3	cervix
40	chr2:36726200-36733800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:36726400-36729200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:36726400-36729400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:36726400-36729600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:36726400-36729800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:36726400-36730200	Strong transcription	Left Ventricle	heart
46	chr2:36726400-36732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:36726400-36733800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:36726400-36734400	Strong transcription	Adipose Nuclei	Adipose
49	chr2:36726600-36728600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:36726600-36728600	Strong transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links