Variant report

Variant	rs137994598
Chromosome Location	chr22:22067686-22067687
allele	A/C
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22066693..22068125-chr22:22306797..22308373,28	K562	blood:
2	chr22:22065172..22070463-chr22:22299725..22303847,7	K562	blood:
3	chr22:22067136..22068163-chr22:22300753..22302623,8	K562	blood:
4	chr22:22066198..22068763-chr22:22306055..22308716,2	MCF-7	breast:
5	chr22:22066903..22068087-chr22:22326739..22327340,4	K562	blood:
6	chr22:22067102..22068170-chr22:22080299..22081635,13	K562	blood:
7	chr22:22063723..22066195-chr22:22067309..22069488,2	MCF-7	breast:
8	chr22:22064353..22070160-chr22:22219719..22223588,8	K562	blood:
9	chr22:22067175..22068130-chr22:22109893..22111057,3	K562	blood:
10	chr22:22066150..22068560-chr22:22336921..22338725,2	K562	blood:
11	chr22:22067135..22068430-chr22:22292296..22294079,8	MCF-7	breast:
12	chr22:22066868..22068179-chr22:22292139..22293589,10	MCF-7	breast:
13	chr22:22066653..22068423-chr22:22143403..22146205,2	K562	blood:
14	chr22:22067378..22068159-chr22:22483388..22484180,2	K562	blood:
15	chr22:22065955..22067902-chr22:22069811..22072389,2	K562	blood:
16	chr22:22066145..22069858-chr22:22305918..22309346,5	K562	blood:
17	chr22:22059649..22068854-chr22:22288884..22299619,22	K562	blood:
18	chr22:22066887..22067735-chr22:22145858..22146732,3	K562	blood:
19	chr22:22067152..22067817-chr22:22080630..22081487,3	MCF-7	breast:
20	chr22:22067149..22069360-chr22:22080582..22081610,9	MCF-7	breast:
21	chr22:22066867..22068132-chr22:22128746..22129659,4	K562	blood:
22	chr22:22065172..22068892-chr22:22301220..22303855,4	K562	blood:
23	chr22:22067148..22068136-chr22:22089667..22090766,3	K562	blood:
24	chr22:22062971..22069839-chr22:22290687..22296640,27	K562	blood:
25	chr22:22066717..22068179-chr22:22291083..22293953,77	K562	blood:
26	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
27	chr22:22066649..22069201-chr22:22080378..22082874,2	MCF-7	breast:
28	chr22:22065816..22069479-chr22:22082156..22085627,4	K562	blood:
29	chr22:22066723..22069264-chr22:22320158..22323038,2	K562	blood:
30	chr22:22067300..22070154-chr22:22079698..22083393,3	MCF-7	breast:
31	chr22:22065133..22070504-chr22:22304213..22309346,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000200985	Chromatin interaction
ENSG00000100038	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
3	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
4	chr22:22054200-22067800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:22056200-22067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:22056200-22068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:22056200-22069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:22056600-22068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:22058000-22068600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:22058200-22073400	Weak transcription	Lung	lung
13	chr22:22064400-22068400	Weak transcription	Gastric	stomach
14	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
15	chr22:22065000-22072800	Weak transcription	Primary B cells from cord blood	blood
16	chr22:22065000-22076800	Weak transcription	Ovary	ovary
17	chr22:22065000-22080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
20	chr22:22065400-22067800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:22065600-22068600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:22065600-22080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
24	chr22:22065800-22068200	Weak transcription	Thymus	Thymus
25	chr22:22067200-22067800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:22067200-22067800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr22:22067200-22067800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:22067200-22067800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:22067200-22067800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr22:22067200-22067800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr22:22067200-22067800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:22067200-22067800	Enhancers	Left Ventricle	heart
33	chr22:22067200-22067800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr22:22067200-22068000	Enhancers	Primary B cells from peripheral blood	blood
35	chr22:22067200-22068000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr22:22067200-22068000	Enhancers	Adipose Nuclei	Adipose
37	chr22:22067200-22068000	Enhancers	Fetal Lung	lung
38	chr22:22067200-22068000	Enhancers	Fetal Stomach	stomach
39	chr22:22067200-22068000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr22:22067200-22068000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr22:22067200-22068000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr22:22067200-22068000	Flanking Bivalent TSS/Enh	K562	blood
43	chr22:22067200-22068200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:22067200-22068200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:22067200-22068200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:22067200-22068600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr22:22067200-22068800	Strong transcription	Right Atrium	heart
48	chr22:22067200-22069000	Enhancers	Fetal Heart	heart
49	chr22:22067200-22069200	Enhancers	Pancreas	Pancrea
50	chr22:22067200-22069600	Enhancers	Fetal Muscle Leg	muscle

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