Variant report

Variant	nsv976485
Chromosome Location	chr11:34078142-34082109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34077456..34080361-chr11:34145173..34147972,2	MCF-7	breast:
2	chr11:34079591..34082154-chr11:34095568..34097319,2	MCF-7	breast:
3	chr11:34078306..34080803-chr11:34146399..34149282,2	K562	blood:
4	chr11:33856227..33858061-chr11:34079833..34082068,2	K562	blood:
5	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
6	chr11:34082068..34083571-chr11:34083859..34086812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135372	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577448680	chr11:34078149-34078150	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546500299	chr11:34078226-34078227	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189283538	chr11:34078241-34078242	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528476210	chr11:34078285-34078286	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115660753	chr11:34078320-34078321	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192362858	chr11:34078321-34078322	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530953451	chr11:34078346-34078347	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143749955	chr11:34078353-34078354	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184776165	chr11:34078379-34078380	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189556173	chr11:34078389-34078390	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552454792	chr11:34078395-34078396	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547257678	chr11:34078398-34078399	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76415157	chr11:34078403-34078404	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565630269	chr11:34078406-34078407	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527685392	chr11:34078470-34078471	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559236980	chr11:34078472-34078473	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73497035	chr11:34078516-34078517	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs182026315	chr11:34078518-34078519	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568143735	chr11:34078533-34078534	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11032508	chr11:34078541-34078542	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186053291	chr11:34078553-34078554	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539246167	chr11:34078643-34078644	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546142472	chr11:34078657-34078658	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569646937	chr11:34078685-34078686	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553255932	chr11:34078724-34078725	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190172859	chr11:34078730-34078731	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541814107	chr11:34078757-34078758	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143910791	chr11:34078858-34078859	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114950908	chr11:34078898-34078899	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374100094	chr11:34078936-34078937	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544707597	chr11:34078972-34078973	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563297908	chr11:34079006-34079007	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532335328	chr11:34079028-34079029	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537185135	chr11:34079053-34079054	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565968355	chr11:34079074-34079075	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528428148	chr11:34079109-34079110	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144311274	chr11:34079114-34079115	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76124264	chr11:34079123-34079124	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550085535	chr11:34079149-34079150	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148765235	chr11:34079159-34079160	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557031010	chr11:34079168-34079169	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371378372	chr11:34079172-34079173	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570910922	chr11:34079211-34079212	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568610805	chr11:34079242-34079243	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371429801	chr11:34079263-34079264	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141541076	chr11:34079270-34079271	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536074240	chr11:34079275-34079276	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557546277	chr11:34079276-34079277	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376486916	chr11:34079278-34079279	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60567852	chr11:34079321-34079322	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34073800-34079000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:34074600-34079200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
3	chr11:34074800-34078800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:34075400-34087000	Weak transcription	Gastric	stomach
5	chr11:34075400-34094200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:34075400-34094400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:34075400-34103800	Weak transcription	Aorta	Aorta
8	chr11:34075600-34078400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:34075600-34079000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:34075600-34079400	Weak transcription	Psoas Muscle	Psoas
11	chr11:34075600-34082600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:34075600-34082600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:34075600-34082800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:34075600-34088400	Weak transcription	Right Atrium	heart
15	chr11:34075600-34093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:34075600-34100200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:34075800-34078400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:34075800-34079600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:34075800-34083400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:34075800-34093600	Weak transcription	HSMMtube	muscle
21	chr11:34076000-34078200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:34076000-34078200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:34076000-34078400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:34076000-34078400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:34076000-34079000	Enhancers	Fetal Heart	heart
26	chr11:34076000-34079200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:34076200-34078400	Genic enhancers	NHDF-Ad	bronchial
28	chr11:34076200-34081400	Strong transcription	HSMM	muscle
29	chr11:34076200-34089400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:34076400-34078200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:34076400-34078200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:34076400-34079000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:34076400-34079200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
34	chr11:34076400-34079200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:34076400-34079600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr11:34076600-34078400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:34076600-34078400	Genic enhancers	NH-A	brain
38	chr11:34076600-34079000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:34076600-34079000	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr11:34076600-34079000	Genic enhancers	Fetal Intestine Large	intestine
41	chr11:34076600-34079200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:34076600-34079200	Genic enhancers	HUVEC	blood vessel
43	chr11:34076600-34079600	Enhancers	Fetal Brain Male	brain
44	chr11:34076600-34080200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:34076800-34078400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:34076800-34078400	Genic enhancers	NHEK	skin
47	chr11:34076800-34079000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:34076800-34080200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:34077000-34078200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:34077000-34078200	Enhancers	Stomach Mucosa	stomach

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