Variant report

Variant	rs11168244
Chromosome Location	chr12:48202941-48202942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48101224..48103938-chr12:48201884..48203806,2	MCF-7	breast:
2	chr12:48202920..48205906-chr12:48322070..48325166,3	MCF-7	breast:
3	chr12:48185550..48187276-chr12:48201475..48205028,3	K562	blood:
4	chr12:48173557..48179365-chr12:48198461..48203449,6	K562	blood:
5	chr12:48200516..48204856-chr12:48204984..48208825,6	K562	blood:
6	chr12:48200947..48203542-chr12:48208832..48210426,2	K562	blood:

Variant related genes	Relation type
ENSG00000268069	Chromatin interaction
ENSG00000061273	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11168245	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11168250	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11168251	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11168252	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12721427	1.00[LWK][hapmap]
rs1541408	1.00[LWK][hapmap]
rs2544026	0.81[AMR][1000 genomes]
rs55726902	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56389811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7135791	1.00[LWK][hapmap]
rs73107980	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73107993	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs875023	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	esv999028	chr12:48199301-48209132	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48182000-48206400	Weak transcription	HepG2	liver
2	chr12:48183000-48204000	Weak transcription	Fetal Kidney	kidney
3	chr12:48192400-48203200	Enhancers	Right Atrium	heart
4	chr12:48193400-48203000	Enhancers	Fetal Heart	heart
5	chr12:48193400-48205000	Weak transcription	Brain Germinal Matrix	brain
6	chr12:48197200-48203400	Enhancers	Psoas Muscle	Psoas
7	chr12:48198000-48203200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:48198200-48203400	Enhancers	Right Ventricle	heart
9	chr12:48199200-48203400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:48199400-48203400	Enhancers	Left Ventricle	heart
11	chr12:48199400-48206400	Weak transcription	Fetal Brain Female	brain
12	chr12:48199600-48203200	Enhancers	Stomach Mucosa	stomach
13	chr12:48199600-48203400	Enhancers	NHDF-Ad	bronchial
14	chr12:48199800-48204000	Weak transcription	Aorta	Aorta
15	chr12:48199800-48206800	Enhancers	Spleen	Spleen
16	chr12:48200000-48203400	Enhancers	Gastric	stomach
17	chr12:48200000-48203600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:48200000-48204800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:48200000-48205800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:48200200-48203000	Weak transcription	Hela-S3	cervix
21	chr12:48200200-48204200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:48200200-48206600	Enhancers	Lung	lung
23	chr12:48200400-48203400	Enhancers	Fetal Muscle Leg	muscle
24	chr12:48200400-48205400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:48200600-48203000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:48200800-48204200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:48200800-48205800	Enhancers	Brain Hippocampus Middle	brain
28	chr12:48201000-48203200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:48201000-48203200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr12:48201000-48203400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr12:48201000-48203400	Enhancers	NH-A	brain
32	chr12:48201000-48204800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr12:48201000-48206000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:48201000-48206400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:48201000-48206400	Enhancers	Dnd41	blood
36	chr12:48201200-48203000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:48201200-48203000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr12:48201200-48203000	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:48201200-48203000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:48201200-48203200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:48201200-48203200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:48201200-48203200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr12:48201200-48203200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr12:48201200-48203200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr12:48201200-48203200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:48201200-48203200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:48201200-48203200	Enhancers	Brain Substantia Nigra	brain
48	chr12:48201200-48203200	Enhancers	Colonic Mucosa	Colon
49	chr12:48201200-48203400	Enhancers	Small Intestine	intestine
50	chr12:48201200-48203400	Enhancers	NHLF	lung

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