Variant report

Variant	rs533370189
Chromosome Location	chr22:30097486-30097487
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	chr22:30097244..30097815-chr22:30485015..30485549,2	MCF-7	breast:
6	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
7	chr22:30097300..30097855-chr22:30400940..30401466,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
2	chr22:30086600-30098000	Weak transcription	Colon Smooth Muscle	Colon
3	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:30089600-30098200	Weak transcription	Right Atrium	heart
5	chr22:30092600-30098200	Weak transcription	Liver	Liver
6	chr22:30093000-30099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:30093800-30099200	Weak transcription	Aorta	Aorta
8	chr22:30094400-30098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:30094400-30098600	Weak transcription	Ovary	ovary
10	chr22:30094600-30098200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr22:30094800-30097800	Weak transcription	Brain Substantia Nigra	brain
12	chr22:30095000-30098600	Weak transcription	Spleen	Spleen
13	chr22:30095600-30098200	Enhancers	NH-A	brain
14	chr22:30095800-30097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:30095800-30097600	Enhancers	Osteobl	bone
16	chr22:30095800-30101400	Enhancers	HSMMtube	muscle
17	chr22:30095800-30101600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:30096000-30099200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
21	chr22:30096200-30097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:30096200-30098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:30096200-30098400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr22:30096200-30098600	Bivalent Enhancer	Fetal Stomach	stomach
25	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
26	chr22:30096400-30097600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:30096400-30097600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:30096400-30097800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr22:30096400-30097800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:30096400-30098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr22:30096400-30098000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:30096400-30098200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr22:30096400-30098400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr22:30096400-30098600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr22:30096400-30098600	Enhancers	Fetal Lung	lung
36	chr22:30096400-30098800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr22:30096400-30098800	Enhancers	Brain Hippocampus Middle	brain
38	chr22:30096400-30099000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr22:30096400-30099000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr22:30096400-30099000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr22:30096400-30099200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:30096400-30099400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:30096400-30099400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr22:30096400-30099800	Enhancers	Primary hematopoietic stem cells	blood
45	chr22:30096400-30099800	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr22:30096400-30100600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:30096400-30100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:30096400-30101400	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
50	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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