Variant report

Variant	esv10293
Chromosome Location	chr11:5701758-5702533
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	chr11:5702068-5702080	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
2	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
3	11:5033143-5038367..11:5700314-5707362	K562	blood:

Variant related genes	Relation type
TRIM5	TF binding region
ENSG00000225003	chromatin interactions
ENSG00000231070	chromatin interactions
ENSG00000176951	chromatin interactions
ENSG00000224300	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57860438	chr11:5701758-5701759	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57361464	chr11:5701763-5701764	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541490845	chr11:5701801-5701802	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs559329728	chr11:5701802-5701803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs59950692	chr11:5701809-5701810	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs7124435	chr11:5701819-5701820	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368788808	chr11:5701825-5701826	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs59581334	chr11:5701836-5701837	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs530688157	chr11:5701846-5701847	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs112680422	chr11:5701870-5701871	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs17305868	chr11:5701883-5701884	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs59386016	chr11:5701886-5701887	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181406478	chr11:5701903-5701904	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs116425322	chr11:5701904-5701905	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs60100045	chr11:5701942-5701943	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554839284	chr11:5701963-5701964	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs185771068	chr11:5701964-5701965	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs557770434	chr11:5701987-5701988	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs34720081	chr11:5701990-5701991	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200756138	chr11:5701991-5701992	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs577306096	chr11:5701994-5701995	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs7127617	chr11:5702000-5702001	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7127767	chr11:5702099-5702100	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs60111961	chr11:5702140-5702141	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs58529757	chr11:5702163-5702164	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs60435319	chr11:5702170-5702171	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530741642	chr11:5702172-5702173	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs201247189	chr11:5702210-5702211	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs386750198	chr11:5702211-5702212	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs67656732	chr11:5702213-5702214	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115871948	chr11:5702239-5702240	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs188245121	chr11:5702250-5702251	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs530962270	chr11:5702296-5702297	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs16934317	chr11:5702301-5702302	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535171054	chr11:5702304-5702305	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs4992797	chr11:5702333-5702334	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2880574	chr11:5702343-5702344	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs537786868	chr11:5702352-5702353	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs559282467	chr11:5702367-5702368	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs4992798	chr11:5702370-5702371	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181778328	chr11:5702379-5702380	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs4992799	chr11:5702390-5702391	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186414234	chr11:5702427-5702428	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs2880575	chr11:5702442-5702443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563190877	chr11:5702459-5702460	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs4992800	chr11:5702462-5702463	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545555576	chr11:5702463-5702464	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs373053316	chr11:5702476-5702477	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs4992801	chr11:5702489-5702490	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2343225	chr11:5702492-5702493	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
2	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:5684600-5703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:5685400-5705400	Weak transcription	Stomach Mucosa	stomach
6	chr11:5688000-5705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5691000-5705000	Weak transcription	Hela-S3	cervix
8	chr11:5691000-5705400	Weak transcription	Fetal Brain Male	brain
9	chr11:5694200-5705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:5696000-5705200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:5697000-5705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:5698200-5705400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:5698600-5702400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:5698800-5701800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:5698800-5701800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:5698800-5701800	Strong transcription	HSMMtube	muscle
17	chr11:5698800-5702000	Strong transcription	Dnd41	blood
18	chr11:5698800-5702200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:5698800-5702400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:5698800-5702400	Strong transcription	Fetal Lung	lung
21	chr11:5698800-5702400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr11:5698800-5702400	Strong transcription	HUVEC	blood vessel
23	chr11:5698800-5702600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:5698800-5702600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:5698800-5702600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:5698800-5702600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:5698800-5703800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:5698800-5704000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:5699000-5701800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:5699000-5701800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:5699000-5701800	Strong transcription	HSMM	muscle
32	chr11:5699000-5702200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:5699000-5702400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:5699000-5702400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:5699000-5702400	Strong transcription	NHLF	lung
36	chr11:5699000-5702600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:5699000-5702600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:5699000-5702600	Strong transcription	Primary T cells from cord blood	blood
39	chr11:5699200-5701800	Strong transcription	NH-A	brain
40	chr11:5699600-5702600	Strong transcription	Primary B cells from cord blood	blood
41	chr11:5699600-5702800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:5699800-5701800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:5699800-5702400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:5699800-5703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:5700000-5701800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:5700000-5705200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:5700200-5703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:5700200-5704000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:5700200-5705400	Weak transcription	Brain Anterior Caudate	brain
50	chr11:5700200-5705400	Weak transcription	HepG2	liver

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