Variant report

Variant	esv3337434
Chromosome Location	chr22:29503132-29503556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29500127..29504007-chr22:29504582..29508523,3	K562	blood:
2	chr22:29501694..29504498-chr22:29505707..29509646,4	K562	blood:

Variant related genes	Relation type
ENSG00000226772	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114239625	chr22:29503134-29503135	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs134676	chr22:29503191-29503192	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs376426228	chr22:29503197-29503198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374677831	chr22:29503205-29503206	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558180709	chr22:29503215-29503216	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139476368	chr22:29503268-29503269	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187996685	chr22:29503310-29503311	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555852749	chr22:29503319-29503320	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112206054	chr22:29503365-29503366	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571778371	chr22:29503368-29503369	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540638742	chr22:29503369-29503370	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371434102	chr22:29503408-29503409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556351620	chr22:29503452-29503453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577856148	chr22:29503460-29503461	Weak transcription Strong transcription	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
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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
4	chr22:29488400-29521200	Weak transcription	Lung	lung
5	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
6	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:29490200-29503600	Weak transcription	HMEC	breast
8	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
10	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
11	chr22:29491600-29522200	Weak transcription	Liver	Liver
12	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
16	chr22:29493200-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:29493200-29504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:29493200-29504400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:29493200-29505400	Weak transcription	Right Ventricle	heart
20	chr22:29493200-29511600	Weak transcription	Gastric	stomach
21	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
23	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:29493400-29505400	Weak transcription	Small Intestine	intestine
25	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
27	chr22:29494200-29505400	Weak transcription	HepG2	liver
28	chr22:29494600-29506000	Weak transcription	Left Ventricle	heart
29	chr22:29495000-29504800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:29495000-29505600	Weak transcription	Right Atrium	heart
31	chr22:29495000-29509200	Weak transcription	Fetal Brain Female	brain
32	chr22:29495200-29503800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29495200-29505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:29495200-29505400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr22:29495200-29505800	Weak transcription	Adipose Nuclei	Adipose
36	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
37	chr22:29495400-29503600	Weak transcription	NHEK	skin
38	chr22:29495400-29505400	Weak transcription	Fetal Intestine Large	intestine
39	chr22:29495600-29504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:29496000-29504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:29496600-29505600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:29498000-29503600	Weak transcription	Placenta	Placenta
43	chr22:29498000-29505400	Weak transcription	Fetal Kidney	kidney
44	chr22:29498400-29505800	Weak transcription	Fetal Thymus	thymus
45	chr22:29498800-29509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:29499000-29504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:29499400-29504000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:29499400-29506000	Weak transcription	Thymus	Thymus
49	chr22:29499400-29508000	Weak transcription	Brain Angular Gyrus	brain
50	chr22:29499400-29508000	Weak transcription	Brain Cingulate Gyrus	brain

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