Variant report

Variant	rs13424211
Chromosome Location	chr2:67640278-67640279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67640053..67642807-chr2:67660180..67662976,2	MCF-7	breast:
2	chr2:67639893..67641689-chr2:67646484..67648117,2	K562	blood:
3	chr2:67639942..67641689-chr2:67646153..67648117,2	K562	blood:
4	chr2:67625062..67626828-chr2:67638770..67641070,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11891847	0.82[ASN][1000 genomes]
rs11892665	0.81[CEU][hapmap]
rs12162395	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470069	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12471398	0.80[EUR][1000 genomes]
rs12476845	0.87[CEU][hapmap]
rs12477834	0.85[CEU][hapmap]
rs1521042	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17033603	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28703073	0.85[ASN][1000 genomes]
rs56225803	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58738043	0.82[ASN][1000 genomes]
rs62156701	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546309	0.82[ASN][1000 genomes]
rs6731529	0.82[ASN][1000 genomes]
rs6744265	0.87[CEU][hapmap]
rs73938614	0.82[EUR][1000 genomes]
rs7606757	0.85[ASN][1000 genomes]
rs901319	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13424211	ANTXR1	cis	parietal	SCAN
rs13424211	ETAA1	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67625400-67640400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:67625400-67641200	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:67625400-67641400	Weak transcription	HSMMtube	muscle
4	chr2:67625400-67643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:67625600-67641000	Weak transcription	Fetal Brain Male	brain
6	chr2:67627600-67641200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:67628000-67641800	Weak transcription	Aorta	Aorta
8	chr2:67628200-67641200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:67628200-67641400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:67628400-67642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:67631000-67640600	Weak transcription	NHLF	lung
12	chr2:67631600-67641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:67632000-67640400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:67632400-67640400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:67633400-67640400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:67633400-67640800	Weak transcription	Hela-S3	cervix
17	chr2:67633400-67641000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:67633600-67640600	Weak transcription	Fetal Heart	heart
19	chr2:67634800-67640400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:67635400-67640400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:67638200-67640400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:67638200-67641800	Weak transcription	NHDF-Ad	bronchial
23	chr2:67638400-67640400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:67638600-67641800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:67638600-67643200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:67638800-67640400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:67638800-67640400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:67638800-67640400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:67638800-67640400	Weak transcription	Brain Anterior Caudate	brain
30	chr2:67638800-67640400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:67638800-67640400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:67638800-67640400	Weak transcription	Placenta	Placenta
33	chr2:67638800-67640400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:67638800-67640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:67638800-67640600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:67638800-67640600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:67638800-67640600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:67638800-67640600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:67638800-67640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:67638800-67640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:67638800-67640600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:67638800-67640600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:67638800-67640600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:67638800-67650600	Weak transcription	Fetal Lung	lung
45	chr2:67638800-67651600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:67639000-67640600	Weak transcription	HMEC	breast
47	chr2:67639000-67641200	Weak transcription	GM12878-XiMat	blood
48	chr2:67639000-67641800	Weak transcription	A549	lung
49	chr2:67639000-67643400	Weak transcription	Left Ventricle	heart
50	chr2:67639200-67640800	Weak transcription	Fetal Kidney	kidney

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