Variant report

Variant	rs5999143
Chromosome Location	chr22:34312954-34312955
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr22:34312443..34314367-chr22:35604933..35607464,2	K562	blood:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1540292	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267319	0.83[ASN][1000 genomes]
rs35759081	0.85[ASN][1000 genomes]
rs5999134	0.80[ASN][1000 genomes]
rs61356969	0.83[ASN][1000 genomes]
rs7287395	0.85[ASN][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:64 , 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	chr22:34296600-34313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:34297400-34313800	Weak transcription	Gastric	stomach
5	chr22:34303800-34314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:34304600-34313200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:34305000-34313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:34305200-34314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr22:34305600-34313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:34305600-34314200	Weak transcription	Aorta	Aorta
11	chr22:34305800-34314000	Weak transcription	Fetal Intestine Small	intestine
12	chr22:34306000-34314800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:34306200-34314200	Weak transcription	Fetal Muscle Leg	muscle
14	chr22:34306400-34313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:34306400-34313600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:34306400-34315000	Weak transcription	NHLF	lung
17	chr22:34306800-34313200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:34306800-34313800	Weak transcription	Psoas Muscle	Psoas
19	chr22:34307000-34313800	Weak transcription	Ovary	ovary
20	chr22:34307000-34314600	Weak transcription	Spleen	Spleen
21	chr22:34307000-34315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:34307200-34313600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:34307200-34314200	Weak transcription	Fetal Stomach	stomach
24	chr22:34307200-34314600	Weak transcription	Fetal Intestine Large	intestine
25	chr22:34307600-34313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:34308000-34313600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:34308000-34313600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:34308200-34313600	Weak transcription	Brain Angular Gyrus	brain
29	chr22:34308200-34314400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:34308200-34315000	Weak transcription	Brain Substantia Nigra	brain
31	chr22:34308600-34314000	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:34308800-34313800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:34309400-34314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:34309800-34313000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:34310000-34313600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr22:34310800-34313600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr22:34310800-34313800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:34310800-34314200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:34310800-34314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:34311800-34313800	Weak transcription	Liver	Liver
41	chr22:34311800-34315000	Enhancers	Fetal Brain Male	brain
42	chr22:34312000-34313000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:34312000-34313600	Weak transcription	Stomach Mucosa	stomach
44	chr22:34312000-34314400	Weak transcription	Brain Germinal Matrix	brain
45	chr22:34312200-34313200	Weak transcription	Fetal Lung	lung
46	chr22:34312400-34313600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr22:34312400-34313600	Enhancers	Fetal Brain Female	brain
48	chr22:34312600-34313000	Flanking Active TSS	Right Ventricle	heart
49	chr22:34312600-34313200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr22:34312600-34313800	Enhancers	Rectal Smooth Muscle	rectum

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