Variant report

Variant	rs13115912
Chromosome Location	chr4:3373499-3373500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3372648..3375101-chr4:3385736..3387279,2	K562	blood:
2	chr4:3371921..3374517-chr4:3376097..3377699,2	K562	blood:
3	chr4:3372799..3374407-chr4:3477096..3479436,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10026577	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10212869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500527	0.83[ASN][1000 genomes]
rs13138393	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13152170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844212	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2343800	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28600049	0.80[ASN][1000 genomes]
rs35494582	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58982717	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59594429	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6826720	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6843312	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6852922	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6855619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71597208	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668784	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7695631	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3368000-3373800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:3368800-3376800	Enhancers	Spleen	Spleen
3	chr4:3369200-3374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:3369400-3373800	Enhancers	Liver	Liver
5	chr4:3370000-3374400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr4:3370400-3374600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:3370800-3373600	Enhancers	Fetal Intestine Large	intestine
8	chr4:3371000-3373600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:3371000-3374000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:3371000-3374400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:3371200-3373600	Flanking Active TSS	HUVEC	blood vessel
12	chr4:3371200-3374000	Weak transcription	Pancreas	Pancrea
13	chr4:3371200-3375800	Weak transcription	Gastric	stomach
14	chr4:3371600-3378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:3371800-3374400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr4:3371800-3376000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:3372000-3374200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr4:3372000-3374400	Enhancers	Fetal Heart	heart
19	chr4:3372000-3375000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:3372200-3373600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:3372200-3373800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr4:3372200-3374000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:3372200-3374200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:3372200-3374200	Weak transcription	Colonic Mucosa	Colon
25	chr4:3372200-3374400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:3372200-3374400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:3372200-3374400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:3372200-3375600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr4:3372200-3375600	Enhancers	Adipose Nuclei	Adipose
30	chr4:3372200-3377400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:3372200-3377600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:3372200-3378000	Weak transcription	Aorta	Aorta
33	chr4:3372200-3382000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:3372200-3386400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:3372400-3373800	Enhancers	Brain Substantia Nigra	brain
36	chr4:3372400-3374200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:3372400-3374600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:3372400-3375000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:3372400-3375000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:3372400-3375000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:3372400-3375200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:3372400-3375200	Enhancers	Left Ventricle	heart
43	chr4:3372400-3375400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:3372400-3375400	Enhancers	Right Ventricle	heart
45	chr4:3372400-3375600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:3372400-3375600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr4:3372400-3377400	Weak transcription	Osteobl	bone
48	chr4:3372400-3377800	Weak transcription	NHDF-Ad	bronchial
49	chr4:3372400-3382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:3372600-3373800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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