Variant report

Variant	rs2231336
Chromosome Location	chr13:38935068-38935069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:38929120..38930872-chr13:38933136..38936184,3	K562	blood:
2	chr13:38928524..38930936-chr13:38934503..38937982,3	K562	blood:
3	chr13:38928713..38933480-chr13:38933569..38937832,7	MCF-7	breast:
4	chr13:38923235..38925039-chr13:38934003..38935913,2	K562	blood:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1011484	1.00[ASN][1000 genomes]
rs10507469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507470	1.00[ASN][1000 genomes]
rs1590952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057710	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019516	1.00[ASN][1000 genomes]
rs2173948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306542	1.00[ASN][1000 genomes]
rs7322186	1.00[ASN][1000 genomes]
rs73460283	1.00[ASN][1000 genomes]
rs74047550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532217	1.00[ASN][1000 genomes]
rs9548328	1.00[ASN][1000 genomes]
rs9888482	1.00[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1851668	chr13:38928976-38948851	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38924400-38938800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:38924800-38936400	Weak transcription	Esophagus	oesophagus
3	chr13:38924800-38937000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:38924800-38937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:38924800-38937400	Weak transcription	Gastric	stomach
6	chr13:38924800-38939000	Weak transcription	Lung	lung
7	chr13:38924800-38939400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:38925000-38936800	Weak transcription	Aorta	Aorta
9	chr13:38925000-38937400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:38925200-38939600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:38925400-38937200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:38925400-38937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:38925400-38937800	Weak transcription	Pancreas	Pancrea
14	chr13:38925600-38937800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:38925600-38938000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:38925600-38938000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:38925600-38939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:38925800-38935600	Weak transcription	Stomach Mucosa	stomach
19	chr13:38925800-38935800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:38925800-38938400	Weak transcription	Fetal Stomach	stomach
21	chr13:38925800-38939000	Weak transcription	Spleen	Spleen
22	chr13:38925800-38939400	Weak transcription	Thymus	Thymus
23	chr13:38925800-38939800	Weak transcription	Small Intestine	intestine
24	chr13:38926000-38935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:38926000-38937200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:38926000-38937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:38926000-38937600	Weak transcription	Colonic Mucosa	Colon
28	chr13:38926000-38937600	Strong transcription	HMEC	breast
29	chr13:38926000-38938000	Strong transcription	Osteobl	bone
30	chr13:38926000-38938800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr13:38926000-38939000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:38926000-38939200	Weak transcription	Psoas Muscle	Psoas
33	chr13:38926000-38939400	Weak transcription	Brain Angular Gyrus	brain
34	chr13:38926000-38939800	Weak transcription	Brain Germinal Matrix	brain
35	chr13:38926200-38935600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:38926200-38935600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:38926200-38938000	Strong transcription	HSMM	muscle
38	chr13:38926200-38938000	Strong transcription	NH-A	brain
39	chr13:38926200-38939000	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:38926200-38939200	Weak transcription	Right Ventricle	heart
41	chr13:38926200-38947000	Weak transcription	Ovary	ovary
42	chr13:38926200-38947000	Weak transcription	Hela-S3	cervix
43	chr13:38926600-38935600	Weak transcription	Fetal Muscle Leg	muscle
44	chr13:38926600-38938200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr13:38926800-38938000	Strong transcription	Liver	Liver
46	chr13:38927000-38938000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:38927400-38937800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:38927400-38943200	Weak transcription	K562	blood
49	chr13:38927600-38937800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:38927600-38938000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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