Variant report

Variant	esv2758542
Chromosome Location	chr22:34169795-34203479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34181411..34183196-chr22:34314966..34317332,2	MCF-7	breast:
2	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:
3	chr22:34172664..34173221-chr22:34313368..34314036,2	MCF-7	breast:
4	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:
5	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 1537 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1537 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535437602	chr22:34169817-34169818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148962132	chr22:34169825-34169826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5845110	chr22:34169827-34169828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398061904	chr22:34169832-34169833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555364310	chr22:34169842-34169843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575299332	chr22:34169862-34169863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372644504	chr22:34169882-34169883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185874616	chr22:34169890-34169891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190384537	chr22:34169932-34169933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs5999094	chr22:34169938-34169939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112632745	chr22:34169995-34169996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529588028	chr22:34170003-34170004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71320991	chr22:34170067-34170068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571880025	chr22:34170072-34170073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs494218	chr22:34170076-34170077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562481479	chr22:34170081-34170082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78087476	chr22:34170097-34170098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552151440	chr22:34170120-34170121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565680457	chr22:34170147-34170148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567654173	chr22:34170171-34170172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78749161	chr22:34170175-34170176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12628434	chr22:34170195-34170196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201641176	chr22:34170242-34170243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs68022020	chr22:34170243-34170244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71806119	chr22:34170244-34170245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565616845	chr22:34170246-34170247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375572389	chr22:34170250-34170251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111430705	chr22:34170267-34170268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150122686	chr22:34170319-34170320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575145425	chr22:34170346-34170347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548925884	chr22:34170367-34170368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568915309	chr22:34170376-34170377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544093985	chr22:34170388-34170389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373802775	chr22:34170389-34170390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558221089	chr22:34170412-34170413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182580008	chr22:34170469-34170470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112139501	chr22:34170486-34170487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578061005	chr22:34170490-34170491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534380769	chr22:34170527-34170528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554093553	chr22:34170529-34170530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560884531	chr22:34170530-34170531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386820854	chr22:34170532-34170533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112140943	chr22:34170557-34170558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562418857	chr22:34170564-34170565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576103145	chr22:34170565-34170566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186936945	chr22:34170567-34170568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541295741	chr22:34170587-34170588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564973466	chr22:34170603-34170604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77633467	chr22:34170685-34170686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547534141	chr22:34170719-34170720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34124800-34171000	Weak transcription	Ovary	ovary
2	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
3	chr22:34154400-34171000	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
5	chr22:34154400-34176000	Weak transcription	Gastric	stomach
6	chr22:34162600-34172600	Weak transcription	Lung	lung
7	chr22:34165400-34171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:34165400-34176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:34165600-34169800	Enhancers	Left Ventricle	heart
10	chr22:34165600-34172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:34165800-34172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:34166000-34171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:34166000-34172200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:34166000-34176600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:34166800-34175800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:34167000-34171200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:34167600-34172200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:34167800-34176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:34168000-34170800	Weak transcription	Right Atrium	heart
20	chr22:34168000-34171000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:34168000-34173000	Weak transcription	Pancreas	Pancrea
22	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
23	chr22:34169000-34170000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:34169000-34170200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:34169000-34176000	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:34169200-34172400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:34169400-34169800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:34169400-34169800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:34169400-34171600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:34169400-34177600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:34169600-34169800	Enhancers	Brain Anterior Caudate	brain
32	chr22:34169600-34169800	Enhancers	Psoas Muscle	Psoas
33	chr22:34169600-34170800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:34169600-34170800	Weak transcription	Right Ventricle	heart
35	chr22:34169800-34170800	Weak transcription	Left Ventricle	heart
36	chr22:34169800-34170800	Weak transcription	Psoas Muscle	Psoas
37	chr22:34169800-34176200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:34170000-34181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:34170800-34171400	Enhancers	Right Atrium	heart
40	chr22:34170800-34171400	Enhancers	Right Ventricle	heart
41	chr22:34170800-34172800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr22:34170800-34173000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:34170800-34174000	Enhancers	Psoas Muscle	Psoas
44	chr22:34170800-34174600	Enhancers	Left Ventricle	heart
45	chr22:34171000-34171200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:34171000-34171200	Enhancers	Duodenum Mucosa	Duodenum
47	chr22:34171000-34171400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr22:34171000-34171400	Enhancers	Colon Smooth Muscle	Colon
49	chr22:34171000-34171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:34171000-34172800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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