Variant report

Variant	rs6518681
Chromosome Location	chr22:30609554-30609555
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	chr22:30584661..30587555-chr22:30606550..30610248,3	MCF-7	breast:
2	chr22:30604426..30607194-chr22:30608754..30611954,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11552852	0.84[EUR][1000 genomes]
rs13055101	0.82[EUR][1000 genomes]
rs16988244	0.91[EUR][1000 genomes]
rs16988291	0.91[EUR][1000 genomes]
rs16988303	0.91[EUR][1000 genomes]
rs16988304	0.91[EUR][1000 genomes]
rs16988333	0.91[EUR][1000 genomes]
rs17648208	0.91[EUR][1000 genomes]
rs1807726	0.91[EUR][1000 genomes]
rs2412980	1.00[EUR][1000 genomes]
rs2412981	1.00[EUR][1000 genomes]
rs41278853	0.89[EUR][1000 genomes]
rs41281623	0.86[EUR][1000 genomes]
rs41281633	0.91[EUR][1000 genomes]
rs4482600	1.00[EUR][1000 genomes]
rs4482601	0.98[EUR][1000 genomes]
rs45629133	0.82[EUR][1000 genomes]
rs4823078	1.00[EUR][1000 genomes]
rs56392746	0.91[EUR][1000 genomes]
rs56406718	0.91[EUR][1000 genomes]
rs5753038	0.93[EUR][1000 genomes]
rs5753039	1.00[EUR][1000 genomes]
rs5753042	1.00[EUR][1000 genomes]
rs5753043	0.96[EUR][1000 genomes]
rs5763855	1.00[EUR][1000 genomes]
rs5763856	1.00[EUR][1000 genomes]
rs5763857	1.00[EUR][1000 genomes]
rs5763858	1.00[EUR][1000 genomes]
rs5763870	1.00[EUR][1000 genomes]
rs5763873	1.00[EUR][1000 genomes]
rs5763878	1.00[EUR][1000 genomes]
rs58162368	0.91[EUR][1000 genomes]
rs6006383	0.95[EUR][1000 genomes]
rs60759987	0.91[EUR][1000 genomes]
rs6519802	0.87[EUR][1000 genomes]
rs6519805	0.91[EUR][1000 genomes]
rs713916	1.00[EUR][1000 genomes]
rs7285585	1.00[EUR][1000 genomes]
rs7286205	0.84[EUR][1000 genomes]
rs7290175	1.00[EUR][1000 genomes]
rs737901	0.89[EUR][1000 genomes]
rs73883354	0.80[EUR][1000 genomes]
rs73883355	0.80[EUR][1000 genomes]
rs73883359	0.84[EUR][1000 genomes]
rs73883360	0.91[EUR][1000 genomes]
rs73883363	0.91[EUR][1000 genomes]
rs73883367	0.91[EUR][1000 genomes]
rs73883370	0.91[EUR][1000 genomes]
rs73883374	0.91[EUR][1000 genomes]
rs73883375	0.89[EUR][1000 genomes]
rs73883377	0.89[EUR][1000 genomes]
rs73883378	0.89[EUR][1000 genomes]
rs8141471	0.91[EUR][1000 genomes]
rs962322	1.00[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	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
2	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
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
2	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr22:30600400-30610000	Enhancers	HMEC	breast
4	chr22:30601000-30610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:30601800-30609800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:30601800-30610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30603000-30609800	Enhancers	Osteobl	bone
8	chr22:30603400-30610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:30603600-30610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30603800-30613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30605000-30609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:30605400-30613400	Weak transcription	Aorta	Aorta
13	chr22:30605600-30610600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
15	chr22:30606000-30609800	Enhancers	Esophagus	oesophagus
16	chr22:30606800-30609600	Enhancers	HSMM	muscle
17	chr22:30606800-30613800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:30607000-30610000	Enhancers	HepG2	liver
19	chr22:30607000-30610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:30607000-30610600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:30607600-30609600	Enhancers	Pancreas	Pancrea
22	chr22:30607800-30609600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:30607800-30609600	Enhancers	Lung	lung
24	chr22:30607800-30610400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:30608000-30609600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:30608000-30609800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr22:30608000-30609800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr22:30608200-30609800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:30608200-30609800	Enhancers	NHLF	lung
30	chr22:30608200-30610000	Enhancers	NH-A	brain
31	chr22:30608400-30609600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:30608400-30609600	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:30608400-30609600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr22:30608400-30609600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30608400-30609600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:30608400-30609600	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr22:30608400-30609600	Enhancers	Duodenum Mucosa	Duodenum
38	chr22:30608400-30609600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr22:30608400-30609600	Enhancers	HSMMtube	muscle
40	chr22:30608400-30609800	Enhancers	Primary B cells from cord blood	blood
41	chr22:30608400-30609800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:30608400-30609800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:30608400-30609800	Enhancers	Fetal Intestine Large	intestine
44	chr22:30608400-30609800	Enhancers	Fetal Intestine Small	intestine
45	chr22:30608400-30609800	Bivalent Enhancer	Placenta	Placenta
46	chr22:30608400-30609800	Enhancers	Spleen	Spleen
47	chr22:30608400-30609800	Enhancers	HUVEC	blood vessel
48	chr22:30608400-30609800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr22:30608400-30609800	Enhancers	NHDF-Ad	bronchial
50	chr22:30608400-30611400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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