Variant report

Variant	esv1490942
Chromosome Location	chr22:31803933-31804560
allele	n/a
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:31803954-31807204..22:32154575-32162110	K562	blood:
2	22:31803954-31807204..22:32150875-32154575	GM12878	blood:
3	22:31803954-31807204..22:33208968-33216036	Hela-S3	cervix:
4	22:31803954-31807204..22:31829733-31836635	K562	blood:
5	22:31803954-31807204..22:32255158-32261719	GM12878	blood:
6	22:31803954-31807204..22:32061138-32064448	GM12878	blood:
7	22:31803954-31807204..22:32876067-32877399	GM12878	blood:
8	22:31803954-31807204..22:31825585-31829733	K562	blood:
9	22:31803954-31807204..22:32011472-32012966	K562	blood:
10	22:31803954-31807204..22:32357874-32358849	Hela-S3	cervix:
11	22:31803954-31807204..22:33001296-33002359	Hela-S3	cervix:
12	22:31803954-31807204..22:32100847-32102727	GM12878	blood:
13	22:31803954-31807204..22:32137554-32145079	Hela-S3	cervix:
14	22:31803954-31807204..22:31936958-31958600	GM12878	blood:
15	22:31803954-31807204..22:32304711-32312886	K562	blood:
16	22:31803954-31807204..22:32321495-32324143	GM12878	blood:
17	22:31803954-31807204..22:31861680-31864703	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000197047	chromatin interactions
ENSG00000242251	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000184708	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539186674	chr22:31803955-31803956	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs571938889	chr22:31803964-31803965	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs695615	chr22:31803980-31803981	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191099917	chr22:31804005-31804006	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs182671988	chr22:31804075-31804076	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs555428092	chr22:31804099-31804100	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs544109944	chr22:31804161-31804162	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs575261387	chr22:31804275-31804276	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs186635309	chr22:31804283-31804284	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs560703885	chr22:31804323-31804324	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs563742345	chr22:31804392-31804393	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs533018800	chr22:31804532-31804533	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540127570	chr22:31804536-31804537	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
3	chr22:31796800-31804400	Weak transcription	Colonic Mucosa	Colon
4	chr22:31796800-31805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:31796800-31806600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:31796800-31807000	Weak transcription	Fetal Kidney	kidney
7	chr22:31796800-31807000	Weak transcription	A549	lung
8	chr22:31796800-31815800	Weak transcription	Psoas Muscle	Psoas
9	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:31796800-31835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31797000-31807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:31797000-31812800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:31797000-31832000	Strong transcription	Fetal Muscle Leg	muscle
14	chr22:31797000-31836600	Strong transcription	Placenta	Placenta
15	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:31797200-31812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:31797200-31812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:31797200-31814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:31797200-31817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:31797200-31826800	Strong transcription	Liver	Liver
22	chr22:31797200-31832600	Strong transcription	Fetal Intestine Small	intestine
23	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
27	chr22:31797400-31809200	Weak transcription	Pancreas	Pancrea
28	chr22:31797400-31812800	Strong transcription	Fetal Thymus	thymus
29	chr22:31797400-31813000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:31797400-31813000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr22:31797400-31821200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr22:31797600-31806000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:31797600-31812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:31797600-31812800	Strong transcription	Adipose Nuclei	Adipose
36	chr22:31797600-31813000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr22:31797600-31813000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:31797600-31828000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:31797600-31835800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr22:31797800-31812600	Strong transcription	Osteobl	bone
41	chr22:31797800-31813000	Strong transcription	Primary T cells from cord blood	blood
42	chr22:31797800-31821600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:31797800-31832200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:31797800-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:31797800-31846800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr22:31798000-31813200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:31798000-31831800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:31798200-31804200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr22:31798200-31812800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr22:31798200-31813000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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