Variant report

Variant	rs11507744
Chromosome Location	chr12:123955845-123955846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123954067..123957606-chr12:124016638..124019089,3	MCF-7	breast:
2	chr12:123950525..123953313-chr12:123954953..123957531,2	MCF-7	breast:
3	chr12:123848006..123850199-chr12:123954531..123957237,2	MCF-7	breast:
4	chr12:123941355..123944162-chr12:123954401..123956656,2	K562	blood:
5	chr12:123948778..123953416-chr12:123953598..123956451,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-1	chr12:123955639-123956909	NR_104103

No data

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000139697	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11497308	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11497312	0.89[EUR][1000 genomes]
rs11497313	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11516176	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11522340	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11534428	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11559494	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11560820	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28829651	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3087496	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34031619	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35322317	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4078291	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4479070	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6606747	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7975636	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9697264	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9697616	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9723046	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9777813	0.94[EUR][1000 genomes]
rs9778112	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943800-123956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:123943800-123956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:123943800-123958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:123943800-123959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:123943800-123959600	Weak transcription	Psoas Muscle	Psoas
6	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:123944600-123956400	Weak transcription	Stomach Mucosa	stomach
8	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
9	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
10	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
11	chr12:123945200-123959200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:123946200-123957600	Strong transcription	Fetal Thymus	thymus
15	chr12:123946200-123957800	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:123946800-123959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:123947200-123958600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
19	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:123949000-123957800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:123949000-123966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:123949200-123957600	Strong transcription	Primary T cells from cord blood	blood
24	chr12:123949200-123957600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:123949600-123956200	Weak transcription	NH-A	brain
26	chr12:123950000-123963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:123950400-123956000	Weak transcription	Fetal Kidney	kidney
28	chr12:123950400-123956000	Weak transcription	NHDF-Ad	bronchial
29	chr12:123950400-123973000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:123950600-123956000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:123950600-123956000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:123950600-123958800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:123950600-123958800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:123950800-123956000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:123950800-123956000	Weak transcription	Pancreas	Pancrea
36	chr12:123950800-123956000	Weak transcription	HMEC	breast
37	chr12:123950800-123956200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:123950800-123956200	Weak transcription	K562	blood
39	chr12:123950800-123956400	Weak transcription	Fetal Brain Male	brain
40	chr12:123950800-123961400	Weak transcription	Right Atrium	heart
41	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
42	chr12:123951000-123956000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:123951000-123956000	Weak transcription	A549	lung
44	chr12:123951000-123956200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:123951200-123956000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:123951200-123956000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:123951400-123956000	Weak transcription	Gastric	stomach
48	chr12:123952000-123956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123952000-123956200	Strong transcription	Osteobl	bone
50	chr12:123952200-123956000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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