Variant report

Variant	rs16867074
Chromosome Location	chr2:9750210-9750211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9748514..9750852-chr2:9899112..9901012,2	K562	blood:
2	chr2:9749693..9751303-chr2:9753003..9754631,2	MCF-7	breast:
3	chr2:9695637..9698629-chr2:9748252..9750554,2	K562	blood:
4	chr2:9695808..9697643-chr2:9749905..9751425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11674777	1.00[JPT][hapmap]
rs11888902	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11890807	1.00[JPT][hapmap]
rs11902264	1.00[JPT][hapmap]
rs11902431	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12465158	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12470619	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12476008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12692388	1.00[JPT][hapmap]
rs16867062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867073	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3791748	1.00[JPT][hapmap]
rs41308184	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669401	0.88[EUR][1000 genomes]
rs62119390	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62119425	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62119430	0.97[EUR][1000 genomes]
rs6432018	1.00[JPT][hapmap]
rs6432023	1.00[JPT][hapmap]
rs6432025	1.00[JPT][hapmap]
rs6715408	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6734469	1.00[JPT][hapmap]
rs7569485	1.00[JPT][hapmap]
rs7597961	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16867074	LOC645233///LOC732360///TDG	trans	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9741400-9752600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:9741400-9760000	Weak transcription	Fetal Kidney	kidney
4	chr2:9741600-9751000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:9741800-9752600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:9742000-9753600	Weak transcription	Fetal Lung	lung
7	chr2:9742200-9751200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:9742200-9757000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:9742400-9753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:9742800-9752400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:9742800-9757800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:9744600-9755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:9744800-9766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:9746800-9752800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:9747600-9751600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:9747800-9751400	Enhancers	Fetal Heart	heart
17	chr2:9747800-9760200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:9748000-9757000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:9748200-9750600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:9748600-9750400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:9748600-9750800	Weak transcription	Ovary	ovary
22	chr2:9748600-9750800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:9748600-9751400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:9748600-9753000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:9748600-9755000	Weak transcription	Fetal Stomach	stomach
26	chr2:9748600-9756400	Enhancers	Brain Substantia Nigra	brain
27	chr2:9748600-9765600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:9748600-9766600	Weak transcription	Aorta	Aorta
29	chr2:9748600-9767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:9748800-9750400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:9748800-9750600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:9748800-9750600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:9748800-9750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:9748800-9750600	Enhancers	Brain Angular Gyrus	brain
35	chr2:9748800-9751000	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:9748800-9751000	Enhancers	A549	lung
37	chr2:9748800-9751000	Weak transcription	NH-A	brain
38	chr2:9748800-9751200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:9748800-9751200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:9748800-9751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:9748800-9751400	Weak transcription	Right Ventricle	heart
42	chr2:9748800-9751800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:9748800-9752000	Weak transcription	Right Atrium	heart
44	chr2:9748800-9752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:9748800-9752200	Weak transcription	Placenta	Placenta
46	chr2:9748800-9752400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:9748800-9752600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:9748800-9752600	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:9748800-9752800	Weak transcription	HMEC	breast
50	chr2:9748800-9753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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