Variant report

Variant	rs11609044
Chromosome Location	chr12:48123703-48123704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48122853-48124741	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr12:48123698-48124113	PFSK-1	brain:	n/a	chr12:48123883-48123892

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48123429..48125813-chr12:48228513..48231351,2	MCF-7	breast:
2	chr12:48123237..48125446-chr12:48212337..48215614,3	MCF-7	breast:
3	chr12:48121475..48125710-chr12:48127578..48130124,5	MCF-7	breast:
4	chr12:48121602..48124147-chr12:48377989..48379947,2	MCF-7	breast:
5	chr12:48121380..48124034-chr12:48159649..48162276,2	MCF-7	breast:
6	chr12:48122622..48126569-chr12:48133427..48136331,4	K562	blood:
7	chr12:48123494..48126163-chr12:48177951..48180667,2	MCF-7	breast:
8	chr12:48115954..48117583-chr12:48123112..48125553,2	K562	blood:
9	chr12:48116837..48120183-chr12:48121904..48124076,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENDOU-1	chr12:48122105-48124381	NONHSAT027937

No data

Variant related genes	Relation type
ENDOU	TF binding region
ENSG00000079337	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000268069	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10875679	0.87[EUR][1000 genomes]
rs11615078	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1233045	0.87[EUR][1000 genomes]
rs1233046	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1233047	0.84[EUR][1000 genomes]
rs1233049	0.83[EUR][1000 genomes]
rs1233050	0.83[EUR][1000 genomes]
rs1233052	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233053	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233055	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1234820	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1235151	0.87[EUR][1000 genomes]
rs12580458	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074535	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2524317	0.81[ASN][1000 genomes]
rs2847433	0.85[EUR][1000 genomes]
rs5006306	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56199059	0.82[EUR][1000 genomes]
rs61917615	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948392	0.83[EUR][1000 genomes]
rs948394	0.85[EUR][1000 genomes]

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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:48111400-48124000	Weak transcription	Gastric	stomach
3	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
5	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:48115200-48126200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:48115600-48123800	Weak transcription	Thymus	Thymus
12	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
15	chr12:48116200-48124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:48116200-48124800	Enhancers	Placenta	Placenta
17	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
19	chr12:48117000-48123800	Weak transcription	Lung	lung
20	chr12:48117000-48129000	Weak transcription	Psoas Muscle	Psoas
21	chr12:48118200-48128800	Weak transcription	Fetal Intestine Small	intestine
22	chr12:48119000-48126000	Enhancers	NHDF-Ad	bronchial
23	chr12:48119200-48125000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:48119400-48124600	Enhancers	Brain Substantia Nigra	brain
25	chr12:48119600-48125000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:48119800-48128600	Weak transcription	Colonic Mucosa	Colon
27	chr12:48120200-48123800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:48120200-48123800	Weak transcription	Fetal Lung	lung
29	chr12:48120400-48128600	Weak transcription	NH-A	brain
30	chr12:48120600-48124000	Weak transcription	Right Atrium	heart
31	chr12:48120800-48123800	Enhancers	Brain Hippocampus Middle	brain
32	chr12:48121400-48125800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:48122400-48123800	Weak transcription	NHEK	skin
34	chr12:48122400-48124200	Enhancers	Brain Angular Gyrus	brain
35	chr12:48122400-48124400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:48122400-48124800	Enhancers	Adipose Nuclei	Adipose
37	chr12:48122400-48124800	Enhancers	Brain Anterior Caudate	brain
38	chr12:48122400-48124800	Enhancers	NHLF	lung
39	chr12:48122400-48125000	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:48122400-48125000	Enhancers	Fetal Muscle Leg	muscle
41	chr12:48122600-48124800	Enhancers	HSMM	muscle
42	chr12:48122600-48125000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:48122600-48125000	Enhancers	Fetal Stomach	stomach
44	chr12:48122800-48124600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:48122800-48124800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:48122800-48124800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:48122800-48124800	Enhancers	Ovary	ovary
48	chr12:48122800-48124800	Enhancers	Osteobl	bone
49	chr12:48122800-48126400	Enhancers	Fetal Heart	heart
50	chr12:48123000-48124200	Enhancers	Liver	Liver

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