Variant report

Variant	rs189739582
Chromosome Location	chr22:28190485-28190486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:28190420-28190570	HCFaa	heart:	n/a	n/a
2	CTCF	chr22:28190380-28190530	HEK293	kidney:	n/a	n/a
3	POLR2A	chr22:28190272-28190620	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr22:28190380-28190530	AG10803	skin:	n/a	n/a
5	CTCF	chr22:28190405-28190500	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr22:28190318-28190524	PFSK-1	brain:	n/a	n/a
7	CTCF	chr22:28190340-28190490	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr22:28190400-28190550	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr22:28190440-28190590	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr22:28190340-28190490	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr22:28190420-28190570	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr22:28190340-28190490	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28188789..28191463-chr22:28191867..28193850,2	MCF-7	breast:

Variant related genes	Relation type
MN1	TF binding region
ENSG00000169184	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	nsv1059972	chr22:28089263-28227579	Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv829144	chr22:28172266-28209317	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv518700	chr22:28188203-28203750	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3438284	chr22:28189802-28201700	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28170600-28192600	Weak transcription	HMEC	breast
2	chr22:28176600-28191000	Weak transcription	NHEK	skin
3	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
5	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
8	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:28186600-28192800	Weak transcription	Lung	lung
10	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:28187400-28190600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr22:28187400-28190800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr22:28187400-28191200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:28187600-28191000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:28187600-28192600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:28187800-28192200	Active TSS	Fetal Brain Male	brain
17	chr22:28188400-28190600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:28188400-28190800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:28188400-28192600	Enhancers	Adipose Nuclei	Adipose
20	chr22:28188600-28198600	Active TSS	Aorta	Aorta
21	chr22:28188800-28190600	Enhancers	Psoas Muscle	Psoas
22	chr22:28188800-28191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:28188800-28193400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr22:28189000-28191000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:28189000-28191000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:28189000-28192600	Active TSS	Brain Germinal Matrix	brain
27	chr22:28189200-28190600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:28189400-28198600	Active TSS	Brain Anterior Caudate	brain
29	chr22:28189600-28190600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr22:28189600-28190800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr22:28189600-28191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:28189600-28191000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:28189600-28191200	Enhancers	Fetal Muscle Trunk	muscle
34	chr22:28189600-28191800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:28189600-28191800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr22:28189600-28193000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr22:28189800-28190600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:28189800-28190600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:28189800-28190600	Transcr. at gene 5' and 3'	NH-A	brain
40	chr22:28189800-28192200	Enhancers	Ovary	ovary
41	chr22:28190000-28190600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:28190000-28190800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr22:28190000-28191000	Enhancers	Brain Hippocampus Middle	brain
44	chr22:28190000-28191000	Enhancers	Brain Substantia Nigra	brain
45	chr22:28190200-28190600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr22:28190200-28190600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:28190200-28190600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
48	chr22:28190200-28190600	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr22:28190200-28190600	Flanking Active TSS	Hela-S3	cervix
50	chr22:28190200-28190800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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