Variant report

Variant	rs5997539
Chromosome Location	chr22:30237706-30237707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30211412..30212970-chr22:30236507..30238739,2	K562	blood:
2	chr22:30233635..30235405-chr22:30235774..30238672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11549795	0.84[EUR][1000 genomes]
rs11552852	0.80[EUR][1000 genomes]
rs1544429	0.93[EUR][1000 genomes]
rs1544430	0.89[EUR][1000 genomes]
rs1544431	0.95[EUR][1000 genomes]
rs1544433	0.95[EUR][1000 genomes]
rs16988120	0.95[EUR][1000 genomes]
rs16988143	0.95[EUR][1000 genomes]
rs16988148	0.93[EUR][1000 genomes]
rs16988149	0.95[EUR][1000 genomes]
rs16988244	0.82[EUR][1000 genomes]
rs1807726	0.82[EUR][1000 genomes]
rs2105871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2349228	0.96[EUR][1000 genomes]
rs249394	0.82[EUR][1000 genomes]
rs249403	0.84[EUR][1000 genomes]
rs28265	0.84[EUR][1000 genomes]
rs36571	0.84[EUR][1000 genomes]
rs36575	0.84[EUR][1000 genomes]
rs36577	0.84[EUR][1000 genomes]
rs36579	0.95[EUR][1000 genomes]
rs36588	0.95[EUR][1000 genomes]
rs36589	0.95[EUR][1000 genomes]
rs36592	0.95[EUR][1000 genomes]
rs36593	0.95[EUR][1000 genomes]
rs36597	0.93[EUR][1000 genomes]
rs36599	0.95[EUR][1000 genomes]
rs36602	0.95[EUR][1000 genomes]
rs36603	0.95[EUR][1000 genomes]
rs36608	0.89[EUR][1000 genomes]
rs39713	0.93[EUR][1000 genomes]
rs41278853	0.84[EUR][1000 genomes]
rs41281623	0.82[EUR][1000 genomes]
rs45629133	0.91[EUR][1000 genomes]
rs4820823	0.96[EUR][1000 genomes]
rs55645000	0.95[EUR][1000 genomes]
rs56332559	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56392746	0.82[EUR][1000 genomes]
rs57348516	0.95[EUR][1000 genomes]
rs5752974	1.00[EUR][1000 genomes]
rs5752977	1.00[EUR][1000 genomes]
rs5752979	0.93[EUR][1000 genomes]
rs5763560	1.00[EUR][1000 genomes]
rs5763568	1.00[EUR][1000 genomes]
rs5763582	0.93[EUR][1000 genomes]
rs5763595	0.95[EUR][1000 genomes]
rs6006276	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7284365	0.91[EUR][1000 genomes]
rs7284951	0.95[EUR][1000 genomes]
rs7286441	0.95[EUR][1000 genomes]
rs7287233	0.95[EUR][1000 genomes]
rs7289803	0.84[EUR][1000 genomes]
rs73392888	0.84[EUR][1000 genomes]
rs737938	0.95[EUR][1000 genomes]
rs73883320	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73883344	0.95[EUR][1000 genomes]
rs73883349	0.91[EUR][1000 genomes]
rs73883354	0.89[EUR][1000 genomes]
rs73883355	0.89[EUR][1000 genomes]
rs73883359	0.84[EUR][1000 genomes]
rs73883360	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30234800-30238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:30234800-30238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:30234800-30238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:30234800-30238200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr22:30234800-30238400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30234800-30238400	Weak transcription	HSMMtube	muscle
7	chr22:30234800-30238400	Weak transcription	NH-A	brain
8	chr22:30234800-30239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30235000-30237800	Weak transcription	NHEK	skin
10	chr22:30235000-30238200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:30235000-30238200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:30235000-30238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:30235000-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:30235000-30238200	Weak transcription	Stomach Mucosa	stomach
15	chr22:30235000-30238200	Weak transcription	HSMM	muscle
16	chr22:30235000-30238200	Weak transcription	Osteobl	bone
17	chr22:30235000-30238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:30235000-30238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:30235000-30238400	Weak transcription	HUVEC	blood vessel
20	chr22:30235000-30238400	Weak transcription	NHLF	lung
21	chr22:30235000-30238600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:30235200-30237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:30235200-30237800	Weak transcription	A549	lung
24	chr22:30235200-30238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:30235200-30238200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:30235200-30238200	Weak transcription	Adipose Nuclei	Adipose
27	chr22:30235200-30238200	Weak transcription	HepG2	liver
28	chr22:30235200-30238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30235200-30238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:30235400-30238200	Weak transcription	Hela-S3	cervix
31	chr22:30235800-30238400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:30236800-30238000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:30236800-30238200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:30236800-30238200	Weak transcription	HMEC	breast
35	chr22:30237400-30237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:30237600-30240000	Enhancers	NHDF-Ad	bronchial

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