Variant report

Variant	esv3326498
Chromosome Location	chr11:16995526-16997624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr11:16996266-16996510	GM12878	blood:	n/a	n/a
2	CTCF	chr11:16996314-16996547	T-47D	breast:	n/a	n/a
3	E2F4	chr11:16997233-16997340	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr11:16996237-16996531	GM12878	blood:	n/a	n/a
5	EP300	chr11:16996290-16996533	T-47D	breast:	n/a	n/a
6	FOSL2	chr11:16995848-16996044	HepG2	liver:	n/a	n/a
7	GATA2	chr11:16996167-16996567	K562	blood:	n/a	n/a
8	HEY1	chr11:16996276-16996634	K562	blood:	n/a	n/a
9	HEY1	chr11:16996352-16996622	K562	blood:	n/a	n/a
10	HEY1	chr11:16996329-16996674	HepG2	liver:	n/a	n/a
11	IRF4	chr11:16996247-16996588	GM12878	blood:	n/a	n/a
12	MAFF	chr11:16996867-16997144	HepG2	liver:	n/a	n/a
13	MAFK	chr11:16996909-16997123	HepG2	liver:	n/a	n/a
14	MAFK	chr11:16996839-16997146	HepG2	liver:	n/a	n/a
15	PAX5	chr11:16996354-16996570	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:16996166-16996630	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:16996142-16996203	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:16996057-16996700	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:16996367-16996610	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:16996246-16996606	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:16996385-16996588	A549	lung:	n/a	n/a
22	POLR2A	chr11:16996408-16996618	A549	lung:	n/a	n/a
23	POLR2A	chr11:16996136-16996643	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:16996220-16996624	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:16996201-16996650	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:16996405-16996582	A549	lung:	n/a	n/a
27	POLR2A	chr11:16996348-16996596	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:16996194-16996628	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:16996176-16996648	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:16996197-16996640	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:16996134-16996646	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:16996283-16996612	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:16996092-16996719	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:16996153-16996608	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:16996158-16996625	H1-hESC	embryonic stem cell:	n/a	n/a
36	POU2F2	chr11:16996145-16996649	GM12878	blood:	n/a	n/a
37	SIN3AK20	chr11:16996279-16996479	HepG2	liver:	n/a	n/a
38	SP1	chr11:16996284-16996588	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZBTB33	chr11:16996270-16996513	GM12878	blood:	n/a	n/a
40	ZBTB33	chr11:16996187-16996739	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16993487..16995936-chr11:17022091..17024047,2	MCF-7	breast:
2	chr11:16997178..16999092-chr11:17003135..17008712,4	MCF-7	breast:
3	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
4	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:
5	chr11:16994632..16996478-chr11:17034698..17036230,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-585P	TF binding region
ENSG00000244398	TF binding region
ENSG00000166689	chromatin interactions
ENSG00000184669	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542713817	chr11:16995535-16995536	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560796264	chr11:16995681-16995682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148595921	chr11:16995729-16995730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6416172	chr11:16995746-16995747	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576429196	chr11:16995758-16995759	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565223014	chr11:16995783-16995784	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544573283	chr11:16995814-16995815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35695770	chr11:16995815-16995816	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397827399	chr11:16995828-16995829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56340937	chr11:16995844-16995845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551639159	chr11:16995959-16995960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532444784	chr11:16996000-16996001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368020708	chr11:16996037-16996038	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs550847734	chr11:16996081-16996082	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs563684352	chr11:16996103-16996104	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs545665173	chr11:16996173-16996174	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59875278	chr11:16996174-16996175	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111804215	chr11:16996179-16996180	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs113493844	chr11:16996180-16996181	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200805585	chr11:16996181-16996182	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs201497190	chr11:16996183-16996184	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369570270	chr11:16996185-16996186	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs397965149	chr11:16996193-16996194	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530778398	chr11:16996219-16996220	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs832	chr11:16996270-16996271	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs2669	chr11:16996360-16996361	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs2670	chr11:16996377-16996378	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570377137	chr11:16996379-16996380	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs2668	chr11:16996466-16996467	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs549476885	chr11:16996558-16996559	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567631853	chr11:16996582-16996583	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs535255108	chr11:16996590-16996591	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs546778213	chr11:16996591-16996592	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs571651171	chr11:16996592-16996593	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs372340633	chr11:16996593-16996594	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs544422010	chr11:16996663-16996664	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73427276	chr11:16996671-16996672	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35029720	chr11:16996733-16996734	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200223947	chr11:16996823-16996824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554687155	chr11:16996846-16996847	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7108957	chr11:16996872-16996873	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35793565	chr11:16996904-16996905	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs193265066	chr11:16996918-16996919	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs549709912	chr11:16996926-16996927	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs567967765	chr11:16996938-16996939	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs183660092	chr11:16996961-16996962	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs374797794	chr11:16996962-16996963	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs577073233	chr11:16996966-16996967	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs544534501	chr11:16997041-16997042	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs11024095	chr11:16997043-16997044	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-16999000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
4	chr11:16985200-16997600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:16985400-16997600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:16990000-16997400	Weak transcription	Lung	lung
7	chr11:16990000-16999000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:16990200-16998000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:16990200-16998000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:16990200-16999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:16990800-16997400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:16991400-16998000	Weak transcription	Gastric	stomach
13	chr11:16991400-16999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
15	chr11:16991600-16997400	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:16991800-17001000	Weak transcription	Fetal Kidney	kidney
17	chr11:16991800-17001000	Weak transcription	HepG2	liver
18	chr11:16992000-17001200	Weak transcription	Liver	Liver
19	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
20	chr11:16992400-16998000	Weak transcription	Fetal Stomach	stomach
21	chr11:16992400-16998400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:16992800-16999000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:16993600-16995800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:16993800-16998400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:16993800-16999000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:16994200-17000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:16994600-16995600	Enhancers	Brain Anterior Caudate	brain
28	chr11:16994600-16999400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:16994800-16995600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:16995000-16998000	Weak transcription	Stomach Mucosa	stomach
31	chr11:16995200-16998200	Weak transcription	Brain Substantia Nigra	brain
32	chr11:16995400-16997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:16995400-16997800	Weak transcription	Pancreas	Pancrea
34	chr11:16995600-16997600	Weak transcription	Brain Anterior Caudate	brain
35	chr11:16995800-16997400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:16997400-16997600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:16997400-16997800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:16997400-16997800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:16997400-16998200	Enhancers	Lung	lung
40	chr11:16997400-16998800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:16997400-17000000	Enhancers	Brain Hippocampus Middle	brain
42	chr11:16997400-17000600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:16997400-17000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:16997400-17002000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:16997600-16997800	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:16997600-16998200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:16997600-16998400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:16997600-17000800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain

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