Variant report

Variant	rs2305576
Chromosome Location	chr2:33745208-33745209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:33744673-33747922	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:33744652-33747909	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33702588..33705548-chr2:33744716..33747266,2	K562	blood:
2	chr2:33736575..33738622-chr2:33744601..33747381,2	K562	blood:

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11676264	0.87[ASN][1000 genomes]
rs11679194	0.84[ASN][1000 genomes]
rs11690827	0.83[CHD][hapmap]
rs13030503	0.86[ASN][1000 genomes]
rs1378726	0.86[CHD][hapmap]
rs17013272	0.86[CHD][hapmap]
rs2305571	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2305574	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3754823	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs3754824	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7592762	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs7597095	0.82[JPT][hapmap]

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2305576	FAM98A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33728800-33750800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:33732600-33745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:33735400-33761800	Weak transcription	Spleen	Spleen
7	chr2:33735800-33746800	Weak transcription	Psoas Muscle	Psoas
8	chr2:33735800-33746800	Weak transcription	Right Ventricle	heart
9	chr2:33735800-33754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:33737400-33749800	Strong transcription	GM12878-XiMat	blood
11	chr2:33737600-33760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:33739200-33747000	Weak transcription	Fetal Kidney	kidney
15	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:33740000-33752000	Weak transcription	Lung	lung
17	chr2:33740800-33746200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:33740800-33746600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:33740800-33746800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:33740800-33751200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:33740800-33754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:33741000-33746200	Weak transcription	Fetal Heart	heart
24	chr2:33742400-33746600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:33742600-33746000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:33742600-33746600	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:33742800-33746600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:33743400-33746600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:33743800-33745600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:33744200-33745800	Weak transcription	Left Ventricle	heart
31	chr2:33744400-33745400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:33744600-33746800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:33744600-33747200	Strong transcription	Primary B cells from cord blood	blood
34	chr2:33744600-33747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:33744800-33746400	Weak transcription	NHDF-Ad	bronchial
36	chr2:33744800-33758200	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links