Variant report

Variant	rs2300037
Chromosome Location	chr7:108045033-108045034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108038876..108042615-chr7:108043454..108045817,3	K562	blood:
2	chr7:108044020..108046145-chr7:108049502..108052110,2	K562	blood:
3	chr7:108043723..108045538-chr7:108047236..108048923,2	MCF-7	breast:
4	chr7:108038126..108040830-chr7:108044309..108045859,2	K562	blood:
5	chr7:108044915..108046509-chr7:108049810..108051904,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11983030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333431	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16872525	0.86[CHB][hapmap]
rs1990162	0.92[CEU][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2108256	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2158846	0.88[YRI][hapmap]
rs2284290	0.81[JPT][hapmap];0.80[YRI][hapmap]
rs2300043	0.87[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2300049	0.81[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2300050	0.82[AFR][1000 genomes]
rs4141076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730307	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4730309	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4730320	0.80[AFR][1000 genomes]
rs61550883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2300037	NRCAM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108024000-108045600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:108035000-108046600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:108036400-108049200	Weak transcription	Spleen	Spleen
4	chr7:108036600-108045600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:108036600-108046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:108036600-108048000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:108036600-108048000	Weak transcription	Pancreas	Pancrea
8	chr7:108036600-108054200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:108036800-108046600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:108037000-108046800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:108040000-108048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:108040200-108048800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:108040600-108046400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:108042600-108046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:108043400-108046400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:108043600-108045200	Weak transcription	Fetal Lung	lung
17	chr7:108043600-108046800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:108044000-108050200	Enhancers	Fetal Brain Male	brain
19	chr7:108044200-108045400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:108044200-108047000	Weak transcription	HMEC	breast
21	chr7:108044400-108045800	Enhancers	Placenta	Placenta
22	chr7:108044400-108046600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:108044400-108046800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:108044400-108047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:108044400-108047800	Weak transcription	HUVEC	blood vessel
26	chr7:108044600-108045400	Enhancers	Brain Substantia Nigra	brain
27	chr7:108044600-108047000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:108044600-108054600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:108044800-108045200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:108044800-108046000	Weak transcription	A549	lung
31	chr7:108044800-108047800	Weak transcription	Fetal Brain Female	brain
32	chr7:108045000-108045200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links