Variant report

Variant	rs6737318
Chromosome Location	chr2:114083120-114083121
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	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
2	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CBWD2-3	chr2:114082765-114083130	NONHSAT073777

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12616641	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1807282	0.92[EUR][1000 genomes]
rs1823125	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2863957	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4618068	0.92[EUR][1000 genomes]
rs56093896	0.92[EUR][1000 genomes]
rs56163359	0.82[ASN][1000 genomes]
rs60873293	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62158163	0.82[ASN][1000 genomes]
rs62158166	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62158168	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62158169	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158170	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62158206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62158211	0.92[EUR][1000 genomes]
rs62158213	0.92[EUR][1000 genomes]
rs7556815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6737318	AC016745.3	cis	Thyroid	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:114082000-114083200	Enhancers	Primary T cells from cord blood	blood
3	chr2:114082000-114083200	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr2:114082000-114083400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114082000-114083400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:114082000-114083400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:114082000-114083400	Enhancers	Spleen	Spleen
8	chr2:114082200-114083200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:114082200-114083200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:114082200-114083200	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:114082200-114083200	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:114082200-114083200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:114082200-114083200	Active TSS	Brain Cingulate Gyrus	brain
14	chr2:114082200-114083200	Active TSS	Esophagus	oesophagus
15	chr2:114082200-114083200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr2:114082200-114083400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:114082200-114083400	Active TSS	Brain Angular Gyrus	brain
18	chr2:114082200-114083600	Active TSS	Right Ventricle	heart
19	chr2:114082400-114083200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:114082400-114083200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:114082400-114083200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:114082400-114083200	Active TSS	Brain Anterior Caudate	brain
23	chr2:114082400-114083200	Active TSS	Brain Germinal Matrix	brain
24	chr2:114082400-114083200	Active TSS	Fetal Brain Female	brain
25	chr2:114082400-114083200	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:114082400-114083200	Active TSS	HSMMtube	muscle
27	chr2:114082400-114083400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:114082400-114083400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:114082400-114083400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:114082400-114083400	Enhancers	Brain Substantia Nigra	brain
31	chr2:114082400-114083400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:114082400-114083400	Active TSS	NHLF	lung
33	chr2:114082400-114083600	Enhancers	Fetal Brain Male	brain
34	chr2:114082400-114083800	Active TSS	A549	lung
35	chr2:114082400-114084600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:114082600-114083200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:114082600-114083200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:114082600-114083200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:114082600-114083200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:114082600-114083200	Enhancers	Primary B cells from cord blood	blood
41	chr2:114082600-114083200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:114082600-114083200	Enhancers	Fetal Kidney	kidney
43	chr2:114082600-114083400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:114082800-114083200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr2:114082800-114083200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:114082800-114083200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:114082800-114083200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr2:114082800-114083200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:114082800-114083200	Enhancers	Fetal Thymus	thymus
50	chr2:114082800-114083200	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links