Variant report

Variant	rs67688205
Chromosome Location	chr2:153196988-153196989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153196103..153199228-chr2:153200981..153204897,3	K562	blood:
2	chr2:153194991..153197025-chr2:153223649..153226041,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11683697	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695401	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023790	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1344837	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1987371	0.83[ASN][1000 genomes]
rs2004544	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345884	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2881241	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664097	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664098	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664565	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664566	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56669316	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433968	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433969	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6710870	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6747548	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754630	0.89[EUR][1000 genomes]
rs6755112	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72860473	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860485	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002881	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193600-153197600	Weak transcription	Fetal Heart	heart
2	chr2:153193800-153199200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
4	chr2:153194000-153200000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:153194000-153200200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:153194000-153201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:153194000-153203600	Weak transcription	Osteobl	bone
8	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
9	chr2:153194200-153198000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
11	chr2:153194400-153197600	Weak transcription	Right Atrium	heart
12	chr2:153194400-153200600	Weak transcription	NHDF-Ad	bronchial
13	chr2:153194400-153201200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:153194400-153202800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:153194600-153197000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:153194600-153197200	Enhancers	A549	lung
17	chr2:153194600-153197400	Weak transcription	Placenta	Placenta
18	chr2:153194600-153197400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:153194600-153197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:153194600-153197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:153194600-153198000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:153194600-153198800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:153194600-153199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153194600-153199000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:153194600-153199200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:153194600-153199600	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:153194600-153200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:153194600-153200600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:153194600-153200600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:153194600-153204200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
32	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:153194600-153206400	Weak transcription	Lung	lung
35	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:153194600-153214600	Weak transcription	Gastric	stomach
39	chr2:153194800-153198800	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:153194800-153199200	Enhancers	Brain Substantia Nigra	brain
41	chr2:153194800-153199400	Weak transcription	Fetal Kidney	kidney
42	chr2:153194800-153203800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:153195000-153199000	Weak transcription	Hela-S3	cervix
44	chr2:153195000-153199200	Enhancers	Brain Angular Gyrus	brain
45	chr2:153195000-153199400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:153195000-153200800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:153195000-153204600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:153195400-153197600	Weak transcription	Ovary	ovary
49	chr2:153195400-153198000	Enhancers	HepG2	liver
50	chr2:153195400-153200000	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links