Variant report

Variant	esv2210205
Chromosome Location	chr22:28189132-28189575
allele	n/a
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	POLR2A	chr22:28189244-28189438	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:28189270-28189411	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:28189296-28189384	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:28189306-28189375	A549	lung:	n/a	n/a
5	POLR2A	chr22:28189284-28189397	GM12891	blood:	n/a	n/a
6	POLR2A	chr22:28189302-28189380	A549	lung:	n/a	n/a
7	POLR2A	chr22:28189314-28189368	A549	lung:	n/a	n/a
8	POLR2A	chr22:28189266-28189415	GM12891	blood:	n/a	n/a
9	POLR2A	chr22:28189278-28189404	A549	lung:	n/a	n/a
10	POLR2A	chr22:28189307-28189376	HepG2	liver:	n/a	n/a
11	POLR2A	chr22:28189285-28189395	Hela-S3	cervix:	n/a	n/a
12	POU2F2	chr22:28189292-28189389	GM12878	blood:	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 interactions

Extended variants
information (count: 21 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13055370	chr22:28189171-28189172	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188221865	chr22:28189232-28189233	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191286848	chr22:28189233-28189234	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373025041	chr22:28189237-28189238	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs45503201	chr22:28189251-28189252	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559020615	chr22:28189269-28189270	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150328919	chr22:28189288-28189289	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113677757	chr22:28189289-28189290	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565503954	chr22:28189317-28189318	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576965988	chr22:28189326-28189327	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575830495	chr22:28189333-28189334	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552978125	chr22:28189341-28189342	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs45585632	chr22:28189387-28189388	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542529000	chr22:28189399-28189400	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563704538	chr22:28189409-28189410	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184257100	chr22:28189454-28189455	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs45454098	chr22:28189456-28189457	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564197190	chr22:28189482-28189483	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528239176	chr22:28189489-28189490	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546595191	chr22:28189523-28189524	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555239442	chr22:28189543-28189544	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28170600-28192600	Weak transcription	HMEC	breast
2	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:28176600-28191000	Weak transcription	NHEK	skin
4	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
5	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
7	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:28182800-28189800	Weak transcription	Ovary	ovary
9	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:28186200-28190200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
13	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:28186400-28190200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:28186600-28192800	Weak transcription	Lung	lung
16	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28187000-28189800	Enhancers	Primary hematopoietic stem cells	blood
18	chr22:28187000-28190000	Active TSS	Fetal Brain Female	brain
19	chr22:28187400-28189600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:28187400-28190600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr22:28187400-28190800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr22:28187400-28191200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:28187600-28189600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:28187600-28189600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr22:28187600-28190200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr22:28187600-28191000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:28187600-28192600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:28187800-28189400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr22:28187800-28190200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:28187800-28190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:28187800-28190400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr22:28187800-28192200	Active TSS	Fetal Brain Male	brain
33	chr22:28188000-28189400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:28188000-28189600	Enhancers	Fetal Muscle Leg	muscle
35	chr22:28188000-28189600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:28188000-28190200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:28188200-28190200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr22:28188200-28190200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr22:28188400-28189200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr22:28188400-28190600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:28188400-28190800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:28188400-28192600	Enhancers	Adipose Nuclei	Adipose
43	chr22:28188600-28189200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:28188600-28189200	Enhancers	Rectal Smooth Muscle	rectum
45	chr22:28188600-28189200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr22:28188600-28189200	Transcr. at gene 5' and 3'	NH-A	brain
47	chr22:28188600-28198600	Active TSS	Aorta	Aorta
48	chr22:28188800-28189200	Enhancers	Brain Angular Gyrus	brain
49	chr22:28188800-28190600	Enhancers	Psoas Muscle	Psoas
50	chr22:28188800-28191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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