Variant report

Variant	rs12628347
Chromosome Location	chr22:34313530-34313531
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:34313373-34314280	A549	lung:	n/a	chr22:34313956-34313977
2	POLR2A	chr22:34313360-34313560	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr22:34313517-34314135	GM12878	blood:	n/a	chr22:34313959-34313978
4	RUNX3	chr22:34313471-34314160	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:34269243..34272868-chr22:34312880..34316299,3	MCF-7	breast:
2	chr22:34256859..34259072-chr22:34312887..34314818,2	MCF-7	breast:
3	chr22:34293649..34297424-chr22:34310921..34313948,3	MCF-7	breast:
4	chr22:34172664..34173221-chr22:34313368..34314036,2	MCF-7	breast:
5	chr22:34312443..34314367-chr22:35604933..35607464,2	K562	blood:

Variant related genes	Relation type
ENSG00000273082	TF binding region
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2267322	1.00[EUR][1000 genomes]
rs5999160	1.00[EUR][1000 genomes]
rs7289366	1.00[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	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34291800-34313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
3	chr22:34297400-34313800	Weak transcription	Gastric	stomach
4	chr22:34303800-34314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:34305000-34313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:34305200-34314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:34305600-34313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:34305600-34314200	Weak transcription	Aorta	Aorta
9	chr22:34305800-34314000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:34306000-34314800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:34306200-34314200	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:34306400-34313600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:34306400-34315000	Weak transcription	NHLF	lung
14	chr22:34306800-34313800	Weak transcription	Psoas Muscle	Psoas
15	chr22:34307000-34313800	Weak transcription	Ovary	ovary
16	chr22:34307000-34314600	Weak transcription	Spleen	Spleen
17	chr22:34307000-34315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:34307200-34313600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:34307200-34314200	Weak transcription	Fetal Stomach	stomach
20	chr22:34307200-34314600	Weak transcription	Fetal Intestine Large	intestine
21	chr22:34307600-34313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:34308000-34313600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr22:34308000-34313600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:34308200-34313600	Weak transcription	Brain Angular Gyrus	brain
25	chr22:34308200-34314400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:34308200-34315000	Weak transcription	Brain Substantia Nigra	brain
27	chr22:34308600-34314000	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:34308800-34313800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:34309400-34314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:34310000-34313600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr22:34310800-34313600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr22:34310800-34313800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:34310800-34314200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:34310800-34314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr22:34311800-34313800	Weak transcription	Liver	Liver
36	chr22:34311800-34315000	Enhancers	Fetal Brain Male	brain
37	chr22:34312000-34313600	Weak transcription	Stomach Mucosa	stomach
38	chr22:34312000-34314400	Weak transcription	Brain Germinal Matrix	brain
39	chr22:34312400-34313600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr22:34312400-34313600	Enhancers	Fetal Brain Female	brain
41	chr22:34312600-34313800	Enhancers	Rectal Smooth Muscle	rectum
42	chr22:34312800-34313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:34312800-34313600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr22:34312800-34313800	Enhancers	HepG2	liver
45	chr22:34312800-34314000	Enhancers	Colon Smooth Muscle	Colon
46	chr22:34312800-34314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:34312800-34314400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr22:34312800-34314800	Flanking Active TSS	Fetal Heart	heart
49	chr22:34312800-34315400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:34313000-34314000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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