Variant report

Variant	rs370810200
Chromosome Location	chr22:22069885-22069886
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22065172..22070463-chr22:22299725..22303847,7	K562	blood:
2	chr22:22065955..22067902-chr22:22069811..22072389,2	K562	blood:
3	chr22:22067858..22070528-chr22:22306156..22308453,2	MCF-7	breast:
4	chr22:22064353..22070160-chr22:22219719..22223588,8	K562	blood:
5	chr22:22068417..22069978-chr22:22083536..22086410,2	MCF-7	breast:
6	chr22:22069048..22071193-chr22:22088822..22090347,2	MCF-7	breast:
7	chr22:22068976..22070805-chr22:22338625..22340951,2	K562	blood:
8	chr22:22020323..22023321-chr22:22067871..22070120,2	MCF-7	breast:
9	chr22:22068963..22071183-chr22:22300868..22303636,2	K562	blood:
10	chr22:22068438..22070039-chr22:29210552..29212059,2	MCF-7	breast:
11	chr22:22068063..22071011-chr22:22220404..22223159,4	K562	blood:
12	chr22:22067300..22070154-chr22:22079698..22083393,3	MCF-7	breast:
13	chr22:22065133..22070504-chr22:22304213..22309346,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100027	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000272858	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
9	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
10	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
15	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	esv3373268	chr22:22069824-22070197	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
3	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:22058200-22073400	Weak transcription	Lung	lung
6	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:22065000-22072800	Weak transcription	Primary B cells from cord blood	blood
8	chr22:22065000-22076800	Weak transcription	Ovary	ovary
9	chr22:22065000-22080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
12	chr22:22065600-22080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
14	chr22:22067600-22070400	Enhancers	Fetal Muscle Trunk	muscle
15	chr22:22067800-22070800	Weak transcription	NH-A	brain
16	chr22:22067800-22077000	Weak transcription	Fetal Thymus	thymus
17	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:22068000-22071400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:22068000-22073200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:22068000-22073800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:22068000-22080000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr22:22068000-22081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:22068000-22081000	Weak transcription	Brain Anterior Caudate	brain
24	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
26	chr22:22068200-22073200	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:22068200-22074800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:22068800-22082000	Weak transcription	Fetal Brain Female	brain
30	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:22069000-22073400	Weak transcription	Gastric	stomach
32	chr22:22069000-22077000	Weak transcription	Right Atrium	heart
33	chr22:22069000-22077800	Weak transcription	Fetal Stomach	stomach
34	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr22:22069200-22070400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:22069200-22080400	Weak transcription	Thymus	Thymus
37	chr22:22069200-22080800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
39	chr22:22069400-22072800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:22069400-22072800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:22069400-22077600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:22069400-22080800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:22069400-22080800	Weak transcription	Dnd41	blood
44	chr22:22069400-22081000	Weak transcription	Brain Germinal Matrix	brain
45	chr22:22069600-22070000	Weak transcription	Fetal Muscle Leg	muscle
46	chr22:22069600-22072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:22069600-22073000	Weak transcription	Fetal Heart	heart
48	chr22:22069600-22075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:22069800-22073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:22069800-22073200	Weak transcription	NHEK	skin

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