Variant report

Variant	rs6764700
Chromosome Location	chr3:101486050-101486051
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	chr3:101480738..101484474-chr3:101485268..101487879,3	K562	blood:
2	chr3:101484277..101486905-chr3:101489538..101492102,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1078153	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11924203	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12491044	0.82[EUR][1000 genomes]
rs12696325	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1426386	0.84[EUR][1000 genomes]
rs1569071	0.84[EUR][1000 genomes]
rs2466369	0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2611836	1.00[TSI][hapmap];0.91[YRI][hapmap]
rs2625282	0.93[TSI][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes]
rs2625289	0.85[TSI][hapmap]
rs2722166	0.80[AMR][1000 genomes]
rs41273611	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4234491	0.84[EUR][1000 genomes]
rs4683853	0.84[EUR][1000 genomes]
rs4683930	0.82[EUR][1000 genomes]
rs6763679	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6768114	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6768182	0.84[EUR][1000 genomes]
rs6774950	0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6779278	0.84[EUR][1000 genomes]
rs6788864	0.88[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs6794860	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805496	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6806256	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72948053	0.82[EUR][1000 genomes]
rs7613194	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7621062	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7644519	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7645698	0.86[AMR][1000 genomes];0.90[EUR][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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv963500	chr3:101481412-101496033	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6764700	FAM55C	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101445600-101497400	Weak transcription	Fetal Heart	heart
2	chr3:101453800-101487000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:101464200-101486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:101472800-101488400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:101473800-101487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:101474800-101490600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:101475000-101486400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:101475600-101488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:101477000-101487200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:101477200-101497400	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:101477400-101486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:101477400-101486600	Weak transcription	Esophagus	oesophagus
13	chr3:101477400-101497600	Weak transcription	Right Ventricle	heart
14	chr3:101477600-101488400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:101477600-101488400	Weak transcription	Spleen	Spleen
16	chr3:101477600-101497400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:101477800-101487800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:101478000-101489000	Weak transcription	Gastric	stomach
19	chr3:101478000-101497400	Weak transcription	NHEK	skin
20	chr3:101478400-101487000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:101478600-101486200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:101478600-101487000	Weak transcription	HepG2	liver
23	chr3:101478600-101488000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:101478600-101488400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:101478600-101489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:101478600-101497400	Weak transcription	A549	lung
27	chr3:101478600-101497400	Weak transcription	K562	blood
28	chr3:101478800-101488200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:101478800-101490400	Weak transcription	Ovary	ovary
30	chr3:101479000-101486200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:101479000-101487200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:101479000-101488400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:101479000-101497400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:101479200-101490000	Weak transcription	Fetal Kidney	kidney
35	chr3:101479200-101497400	Weak transcription	NHLF	lung
36	chr3:101480200-101486400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:101480400-101497400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:101480800-101486200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:101480800-101487000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:101480800-101487800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:101481400-101486600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:101481800-101486200	Weak transcription	Fetal Brain Male	brain
43	chr3:101482000-101497400	Weak transcription	HUVEC	blood vessel
44	chr3:101482200-101486200	Strong transcription	GM12878-XiMat	blood
45	chr3:101482600-101486400	Strong transcription	HSMM	muscle
46	chr3:101483000-101491200	Weak transcription	HSMMtube	muscle
47	chr3:101483000-101497400	Weak transcription	Brain Germinal Matrix	brain
48	chr3:101483200-101497400	Weak transcription	Fetal Intestine Small	intestine
49	chr3:101483800-101497200	Weak transcription	Fetal Stomach	stomach
50	chr3:101484000-101486800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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