Variant report

Variant	rs190342139
Chromosome Location	chr22:32774545-32774546
allele	A/G
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	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	chr22:32774461..32775315-chr22:33599131..33599713,2	MCF-7	breast:
3	22:31936958-31958600..22:32764253-32784733	K562	blood:
4	chr22:32774466..32775412-chr22:32914589..32915237,2	K562	blood:
5	chr22:32774444..32775309-chr22:32839813..32840801,8	MCF-7	breast:
6	chr22:32366399..32367270-chr22:32774385..32775272,2	MCF-7	breast:
7	chr22:32636741..32637412-chr22:32774275..32774958,2	MCF-7	breast:
8	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
9	chr22:32598041..32599019-chr22:32774399..32775272,3	MCF-7	breast:
10	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
11	22:32360288-32405313..22:32764253-32784733	K562	blood:
12	chr22:32774484..32775191-chr22:32869003..32869550,2	MCF-7	breast:
13	chr22:32499507..32500361-chr22:32774175..32775330,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230866	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic 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	38 gene(s)	inside rSNPs	diseases
5	nsv520296	chr22:32774129-32774944	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32772800-32780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32772800-32781400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:32772800-32781600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:32773200-32781400	Weak transcription	Gastric	stomach
10	chr22:32773200-32781400	Weak transcription	Lung	lung
11	chr22:32773600-32775000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32773800-32781600	Weak transcription	Esophagus	oesophagus
13	chr22:32774000-32774600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:32774000-32782000	Weak transcription	Primary B cells from cord blood	blood
15	chr22:32774400-32775200	Enhancers	Brain Hippocampus Middle	brain
16	chr22:32774400-32775400	Enhancers	Fetal Muscle Trunk	muscle
17	chr22:32774400-32775400	Enhancers	Fetal Muscle Leg	muscle
18	chr22:32774400-32775400	Enhancers	Spleen	Spleen
19	chr22:32774400-32781200	Weak transcription	Primary T cells from cord blood	blood
20	chr22:32774400-32781400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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