Variant report

Variant	nsv975249
Chromosome Location	chr11:8015937-8017980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8016245-8016732	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:8015929-8016133	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:8016430-8016529	K562	blood:	n/a	n/a
4	POLR2A	chr11:8016403-8016419	K562	blood:	n/a	n/a
5	POLR2A	chr11:8016136-8016170	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:8016475-8016652	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:8016505-8016737	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:8015996-8016039	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:8017210-8017289	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:8016135-8016345	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:8016790-8017122	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:8016568-8016615	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:8016748-8016758	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:8015842-8016149	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:8016754-8017253	K562	blood:	n/a	n/a
16	POLR2A	chr11:8015619-8016535	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:8017805-8023352	K562	blood:	n/a	n/a
18	POLR2A	chr11:8016298-8016506	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:8015741-8015952	K562	blood:	n/a	n/a
20	POLR2A	chr11:8015560-8017087	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:8017284-8017320	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:8016319-8016524	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:8015918-8016160	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:8015834-8016003	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:8014911-8016449	K562	blood:	n/a	n/a
26	POLR2A	chr11:8015733-8017218	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:8016629-8016849	K562	blood:	n/a	n/a
28	POLR2A	chr11:8015898-8016131	K562	blood:	n/a	n/a
29	POLR2A	chr11:8016597-8016956	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:8016690-8016730	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8016616..8019167-chr11:8111283..8114167,2	MCF-7	breast:
2	chr11:8017899..8020620-chr11:8022528..8024447,3	K562	blood:
3	chr11:8015313..8017095-chr11:8017498..8020187,2	K562	blood:

No data

Variant related genes	Relation type
EIF3F	TF binding region
ENSG00000175390	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372113064	chr11:8015937-8015938	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375398038	chr11:8015942-8015943	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369989218	chr11:8015967-8015968	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200510904	chr11:8016000-8016001	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141976414	chr11:8016013-8016014	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564459532	chr11:8016036-8016037	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372549173	chr11:8016037-8016038	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs145163086	chr11:8016038-8016039	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138812206	chr11:8016039-8016040	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7102030	chr11:8016045-8016046	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201665082	chr11:8016056-8016057	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs570574577	chr11:8016060-8016061	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113494623	chr11:8016065-8016066	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545728244	chr11:8016079-8016080	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372196261	chr11:8016088-8016089	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575801173	chr11:8016120-8016121	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572472001	chr11:8016125-8016126	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539565309	chr11:8016173-8016174	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541109668	chr11:8016176-8016177	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561420343	chr11:8016177-8016178	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138798903	chr11:8016182-8016183	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12786801	chr11:8016251-8016252	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141858138	chr11:8016256-8016257	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146261230	chr11:8016309-8016310	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562359394	chr11:8016346-8016347	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543653675	chr11:8016426-8016427	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551264878	chr11:8016446-8016447	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571253178	chr11:8016447-8016448	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs56392532	chr11:8016499-8016500	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370947755	chr11:8016525-8016526	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200650004	chr11:8016542-8016543	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567330284	chr11:8016562-8016563	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199991205	chr11:8016582-8016583	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374271988	chr11:8016599-8016600	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377708679	chr11:8016608-8016609	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376830068	chr11:8016634-8016635	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369290417	chr11:8016637-8016638	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374099131	chr11:8016648-8016649	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377658079	chr11:8016690-8016691	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202081105	chr11:8016691-8016692	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138116989	chr11:8016712-8016713	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370583444	chr11:8016727-8016728	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1105984	chr11:8016730-8016731	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572813396	chr11:8016731-8016732	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541396578	chr11:8016737-8016738	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561148995	chr11:8016773-8016774	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376053231	chr11:8016778-8016779	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186189184	chr11:8016779-8016780	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545828639	chr11:8016781-8016782	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373872168	chr11:8016797-8016798	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8010600-8020400	Strong transcription	NH-A	brain
2	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
6	chr11:8010800-8019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
14	chr11:8011000-8016000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:8011000-8016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:8011000-8020200	Strong transcription	Hela-S3	cervix
17	chr11:8011000-8020200	Strong transcription	K562	blood
18	chr11:8011000-8021800	Strong transcription	Fetal Thymus	thymus
19	chr11:8011200-8016000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:8011200-8016400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:8011200-8020200	Strong transcription	HepG2	liver
22	chr11:8011200-8022800	Strong transcription	HSMM	muscle
23	chr11:8011400-8020600	Strong transcription	HSMMtube	muscle
24	chr11:8011400-8021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:8011400-8022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:8011400-8022000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:8011400-8022200	Strong transcription	HMEC	breast
28	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:8011800-8016000	Strong transcription	HUVEC	blood vessel
30	chr11:8011800-8020000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:8011800-8020600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:8011800-8022000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:8011800-8022000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:8011800-8022000	Strong transcription	Osteobl	bone
35	chr11:8012000-8022000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr11:8012200-8019800	Strong transcription	Brain Hippocampus Middle	brain
38	chr11:8012200-8022000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:8012400-8020600	Strong transcription	Dnd41	blood
40	chr11:8012600-8017600	Strong transcription	Fetal Intestine Small	intestine
41	chr11:8012800-8017800	Strong transcription	Esophagus	oesophagus
42	chr11:8012800-8019400	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:8012800-8019600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:8012800-8019800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:8012800-8020000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr11:8012800-8020200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:8012800-8020200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:8012800-8020200	Strong transcription	Brain Germinal Matrix	brain
49	chr11:8012800-8020400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:8012800-8020600	Strong transcription	H1 Cell Line	embryonic stem cell

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