Variant report

Variant	rs13058334
Chromosome Location	chr22:30345400-30345401
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	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12484010	0.88[AMR][1000 genomes]
rs12484420	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12484983	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13053389	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13055998	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13058224	0.83[AMR][1000 genomes]
rs16988123	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16988145	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35361418	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs36018230	0.88[AMR][1000 genomes]
rs3788422	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4343558	0.88[AMR][1000 genomes]
rs4820825	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4823056	0.85[AMR][1000 genomes]
rs4823058	0.85[AMR][1000 genomes]
rs4823064	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55686007	0.88[AMR][1000 genomes]
rs5752969	0.80[AMR][1000 genomes]
rs5752976	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5752997	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763543	0.85[AMR][1000 genomes]
rs5763544	0.85[AMR][1000 genomes]
rs5763552	0.88[AMR][1000 genomes]
rs5763553	0.88[AMR][1000 genomes]
rs5763561	0.92[AMR][1000 genomes]
rs5763566	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5763569	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5763575	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5763585	0.97[AMR][1000 genomes]
rs5763601	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763602	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763604	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763606	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763609	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763629	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763637	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763648	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763662	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763681	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763687	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763695	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763701	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5763746	0.88[AMR][1000 genomes]
rs5763748	0.88[AMR][1000 genomes]
rs5763758	0.80[AMR][1000 genomes]
rs71331220	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286681	0.83[AMR][1000 genomes]
rs7292355	0.85[AMR][1000 genomes]
rs8138404	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8142101	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs916807	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
2	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
5	chr22:30340000-30346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:30340200-30351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
9	chr22:30340600-30347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30340600-30347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:30340600-30347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:30340800-30350400	Weak transcription	Stomach Mucosa	stomach
16	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:30341200-30345400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr22:30341200-30352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:30341200-30353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr22:30341400-30346600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr22:30341400-30348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:30341400-30351000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:30341400-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr22:30341400-30355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:30341800-30347600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr22:30342600-30345800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:30342600-30350400	Weak transcription	Aorta	Aorta
28	chr22:30342600-30350400	Weak transcription	Right Atrium	heart
29	chr22:30342600-30352200	Weak transcription	Gastric	stomach
30	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
31	chr22:30343600-30345400	Enhancers	HSMM	muscle
32	chr22:30343800-30345400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:30343800-30345400	Enhancers	Fetal Brain Male	brain
34	chr22:30343800-30345400	Enhancers	NH-A	brain
35	chr22:30343800-30345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:30343800-30346200	Enhancers	Stomach Smooth Muscle	stomach
37	chr22:30343800-30348800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr22:30344000-30347000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:30344000-30347600	Enhancers	K562	blood
40	chr22:30344200-30346200	Enhancers	Right Ventricle	heart
41	chr22:30344200-30347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:30344200-30375000	Weak transcription	HMEC	breast
43	chr22:30344400-30345400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:30344400-30345800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:30344400-30345800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr22:30344400-30345800	Weak transcription	HUVEC	blood vessel
47	chr22:30344400-30346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr22:30344400-30350400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
50	chr22:30344600-30345800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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