Variant report

Variant	rs12053771
Chromosome Location	chr22:30098154-30098155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
2	chr22:30096975..30100180-chr22:30101896..30105574,4	K562	blood:
3	chr22:30096098..30098972-chr22:30384609..30387065,2	MCF-7	breast:
4	chr22:30096968..30098760-chr22:30102459..30104662,3	MCF-7	breast:
5	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
6	chr22:30098089..30098947-chr22:30484640..30485526,4	MCF-7	breast:
7	chr22:30097693..30098380-chr22:30484799..30485447,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55646014	0.81[ASN][1000 genomes]
rs56274114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5752949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752951	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752952	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763340	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5763373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs5763382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763430	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
2	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30089600-30098200	Weak transcription	Right Atrium	heart
4	chr22:30092600-30098200	Weak transcription	Liver	Liver
5	chr22:30093000-30099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:30093800-30099200	Weak transcription	Aorta	Aorta
7	chr22:30094400-30098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:30094400-30098600	Weak transcription	Ovary	ovary
9	chr22:30094600-30098200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr22:30095000-30098600	Weak transcription	Spleen	Spleen
11	chr22:30095600-30098200	Enhancers	NH-A	brain
12	chr22:30095800-30101400	Enhancers	HSMMtube	muscle
13	chr22:30095800-30101600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:30096000-30099200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
17	chr22:30096200-30098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:30096200-30098400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr22:30096200-30098600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
21	chr22:30096400-30098200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr22:30096400-30098400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr22:30096400-30098600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr22:30096400-30098600	Enhancers	Fetal Lung	lung
25	chr22:30096400-30098800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr22:30096400-30098800	Enhancers	Brain Hippocampus Middle	brain
27	chr22:30096400-30099000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr22:30096400-30099000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr22:30096400-30099000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr22:30096400-30099200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:30096400-30099400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:30096400-30099400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr22:30096400-30099800	Enhancers	Primary hematopoietic stem cells	blood
34	chr22:30096400-30099800	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr22:30096400-30100600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:30096400-30100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:30096400-30101400	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
39	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:30096400-30103600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr22:30096600-30098400	Enhancers	Pancreas	Pancrea
43	chr22:30096600-30098600	Enhancers	Duodenum Mucosa	Duodenum
44	chr22:30096600-30098800	Enhancers	NHLF	lung
45	chr22:30096600-30099000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:30096600-30099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr22:30096600-30100400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr22:30096600-30102000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr22:30096600-30103800	Enhancers	Brain Cingulate Gyrus	brain
50	chr22:30096800-30098200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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