Variant report

Variant	rs7244929
Chromosome Location	chr18:12277358-12277359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12274281..12279698-chr18:12305807..12311128,5	K562	blood:
2	chr18:12276259..12278951-chr18:12284988..12286490,2	K562	blood:
3	chr18:12275134..12277766-chr18:12328525..12330528,2	K562	blood:
4	chr18:12271574..12273371-chr18:12275461..12278516,4	MCF-7	breast:
5	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:

Variant related genes	Relation type
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7227888	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7230317	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73947526	0.80[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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7244929	TUBB6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12272000-12278200	Weak transcription	Colonic Mucosa	Colon
2	chr18:12272200-12277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:12272200-12277400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:12272200-12277400	Weak transcription	HSMMtube	muscle
5	chr18:12272200-12277800	Weak transcription	HMEC	breast
6	chr18:12272200-12278000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:12272200-12278000	Weak transcription	NHLF	lung
8	chr18:12272200-12278000	Weak transcription	Osteobl	bone
9	chr18:12272200-12278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:12272200-12278200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:12272200-12278200	Weak transcription	HSMM	muscle
12	chr18:12272200-12278400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr18:12272200-12278600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:12272400-12277400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:12272400-12277400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:12272800-12278200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:12273800-12278200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:12274200-12278400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:12274400-12278400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr18:12274400-12278400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:12274800-12278200	Weak transcription	Adipose Nuclei	Adipose
22	chr18:12275400-12278200	Enhancers	Fetal Muscle Trunk	muscle
23	chr18:12276600-12277600	Enhancers	Placenta	Placenta
24	chr18:12276600-12278200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:12276600-12278200	Enhancers	Rectal Smooth Muscle	rectum
26	chr18:12276600-12278400	Enhancers	Fetal Stomach	stomach
27	chr18:12276600-12278600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:12276600-12278600	Enhancers	Fetal Muscle Leg	muscle
29	chr18:12276800-12277400	Enhancers	Spleen	Spleen
30	chr18:12276800-12278000	Enhancers	Colon Smooth Muscle	Colon
31	chr18:12276800-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:12276800-12278400	Enhancers	Ovary	ovary
33	chr18:12276800-12278400	Enhancers	Right Ventricle	heart
34	chr18:12277000-12277400	Enhancers	Aorta	Aorta
35	chr18:12277000-12277600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:12277000-12277600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr18:12277000-12278200	Weak transcription	Esophagus	oesophagus
38	chr18:12277000-12278600	Enhancers	Right Atrium	heart
39	chr18:12277000-12281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr18:12277200-12277400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:12277200-12278400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:12277200-12278400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:12277200-12278400	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links