Variant report

Variant	esv2617997
Chromosome Location	chr11:85335284-85336759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr11:85336547-85336747	GM12878	blood:	n/a	n/a
2	RCOR1	chr11:85336461-85336533	K562	blood:	n/a	n/a
3	RCOR1	chr11:85336284-85336583	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85335518-85335568	HEK293	kidney:	embryo
2	chr11:85335518-85335568	HCT-116	colon:	n/a
3	chr11:85335518-85335568	GM12878	blood:	n/a
4	chr11:85335518-85335568	Hela-S3	cervix:	n/a
5	chr11:85335518-85335568	BE2_C	brain:	n/a
6	chr11:85335518-85335568	HRCEpiC	kidney:	n/a
7	chr11:85335518-85335568	IMR90	lung:	fetal
8	chr11:85335518-85335568	PANC-1	pancreas:	n/a
9	chr11:85335518-85335568	SAEC	small airway:	n/a
10	chr11:85335518-85335568	HepG2	liver:	n/a
11	chr11:85335518-85335568	HRPEpiC	eye:	n/a
12	chr11:85335518-85335568	AG04449	skin:	fetal
13	chr11:85335518-85335568	NB4	blood:	n/a
14	chr11:85335518-85335568	ovcar-3	ovarian:	n/a
15	chr11:85335518-85335568	GM12892	blood:	n/a
16	chr11:85335518-85335568	HEEpiC	esophagus:	n/a
17	chr11:85335518-85335568	HCF	heart:	n/a
18	chr11:85335518-85335568	AG04450	lung:	fetal
19	chr11:85335518-85335568	NHBE	bronchial:	n/a
20	chr11:85335518-85335568	MCF10A-Er-Src	breast:	n/a
21	chr11:85335518-85335568	MCF-7	breast:	n/a
22	chr11:85335518-85335568	AG10803	skin:	n/a
23	chr11:85335518-85335568	Jurkat	blood:	n/a
24	chr11:85335518-85335568	Caco-2	colon:	n/a
25	chr11:85335518-85335568	AoSMC	blood vessel:	n/a
26	chr11:85335518-85335568	SK-N-SH_RA	brain:	n/a
27	chr11:85335518-85335568	A549	lung:	n/a
28	chr11:85335518-85335568	T-47D	breast:	n/a
29	chr11:85335518-85335568	HUVEC	blood vessel:	n/a
30	chr11:85335518-85335568	NH-A	brain:	n/a
31	chr11:85335518-85335568	HL-60	blood:	n/a
32	chr11:85335518-85335568	ProgFib	skin:	n/a
33	chr11:85335518-85335568	AG09319	gingival:	n/a
34	chr11:85335518-85335568	HRE	kidney:	n/a
35	chr11:85335518-85335568	RPTEC	kidney:	n/a
36	chr11:85335518-85335568	NHDF-neo	bronchial:	n/a
37	chr11:85335518-85335568	PFSK-1	brain:	n/a
38	chr11:85335518-85335568	SK-N-MC	brain:	n/a
39	chr11:85335518-85335568	NT2-D1	testis:	n/a
40	chr11:85335518-85335568	H1-hESC	embryonic stem cell:	embryo
41	chr11:85335518-85335568	ECC-1	luminal epithelium:	n/a
42	chr11:85335518-85335568	BJ	skin:	n/a
43	chr11:85335518-85335568	SK-N-SH	brain:	n/a
44	chr11:85335518-85335568	HNPCEpiC	eye:	n/a
45	chr11:85335518-85335568	HCPEpiC	choroid plexus:	n/a
46	chr11:85335518-85335568	GM12891	blood:	n/a
47	chr11:85335518-85335568	GM19239	blood:	n/a
48	chr11:85335518-85335568	GM06990	blood:	n/a
49	chr11:85335518-85335568	HMEC	breast:	n/a
50	chr11:85335518-85335568	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:85336278..85337921-chr11:85339997..85342218,2	K562	blood:
2	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
3	chr11:85332546..85334884-chr11:85335363..85336942,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM126B	TF binding region
TMEM126B	CpG island
ENSG00000137504	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543843383	chr11:85335350-85335351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565151107	chr11:85335354-85335355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556305969	chr11:85335365-85335366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534324630	chr11:85335384-85335385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145476717	chr11:85335387-85335388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568146563	chr11:85335389-85335390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4943925	chr11:85335489-85335490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148846989	chr11:85335492-85335493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569413482	chr11:85335540-85335541	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142572693	chr11:85335560-85335561	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188104965	chr11:85335570-85335571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76474713	chr11:85335631-85335632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554861736	chr11:85335679-85335680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538992063	chr11:85335701-85335702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576753795	chr11:85335752-85335753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34108115	chr11:85335790-85335791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544090658	chr11:85335811-85335812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536849928	chr11:85335816-85335817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555054976	chr11:85335826-85335827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576633888	chr11:85335890-85335891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191233453	chr11:85335902-85335903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182351517	chr11:85335916-85335917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553613915	chr11:85335917-85335918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs956202	chr11:85335929-85335930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146839539	chr11:85335974-85335975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559607347	chr11:85336022-85336023	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574500461	chr11:85336032-85336033	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541643493	chr11:85336149-85336150	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71684995	chr11:85336173-85336174	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10542151	chr11:85336175-85336176	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563009145	chr11:85336188-85336189	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577279697	chr11:85336205-85336206	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35077682	chr11:85336216-85336217	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374568527	chr11:85336217-85336218	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6592256	chr11:85336225-85336226	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551735360	chr11:85336229-85336230	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563972797	chr11:85336240-85336241	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532832766	chr11:85336241-85336242	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186664012	chr11:85336243-85336244	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566369345	chr11:85336285-85336286	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs192330848	chr11:85336299-85336300	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185613050	chr11:85336345-85336346	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140667402	chr11:85336353-85336354	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145860893	chr11:85336413-85336414	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372479397	chr11:85336480-85336481	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs11822876	chr11:85336486-85336487	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138475368	chr11:85336523-85336524	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74800899	chr11:85336555-85336556	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141123760	chr11:85336557-85336558	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559728855	chr11:85336574-85336575	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85317800-85337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:85320000-85337600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:85320000-85337600	Weak transcription	Psoas Muscle	Psoas
4	chr11:85321800-85336600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:85323400-85337600	Weak transcription	Left Ventricle	heart
6	chr11:85323800-85337600	Weak transcription	Liver	Liver
7	chr11:85324800-85338000	Weak transcription	Fetal Brain Male	brain
8	chr11:85331200-85338200	Weak transcription	Lung	lung
9	chr11:85332200-85337600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:85332600-85336200	Weak transcription	Fetal Lung	lung
11	chr11:85334000-85336400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:85335200-85335400	Enhancers	Brain Cingulate Gyrus	brain
13	chr11:85335200-85335400	Enhancers	Ovary	ovary
14	chr11:85335200-85336800	Enhancers	Fetal Heart	heart
15	chr11:85335400-85336200	Weak transcription	Ovary	ovary
16	chr11:85335400-85336400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:85336000-85336200	Weak transcription	Aorta	Aorta
18	chr11:85336000-85336400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:85336000-85336600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:85336000-85337400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:85336000-85341000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:85336200-85336400	Flanking Active TSS	Aorta	Aorta
23	chr11:85336200-85336400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:85336200-85336600	Enhancers	GM12878-XiMat	blood
25	chr11:85336200-85337600	Enhancers	Fetal Lung	lung
26	chr11:85336200-85339000	Active TSS	Right Atrium	heart
27	chr11:85336200-85340600	Active TSS	Ovary	ovary
28	chr11:85336200-85341400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:85336400-85336600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:85336400-85336600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:85336400-85336600	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:85336400-85336800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:85336400-85336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:85336400-85336800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:85336400-85336800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:85336400-85337600	Enhancers	Brain Hippocampus Middle	brain
37	chr11:85336400-85337600	Enhancers	Colon Smooth Muscle	Colon
38	chr11:85336400-85337600	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:85336400-85337800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:85336400-85340400	Active TSS	Aorta	Aorta
41	chr11:85336600-85336800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:85336600-85336800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:85336600-85336800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:85336600-85337000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:85336600-85337000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:85336600-85337000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:85336600-85337000	Enhancers	Brain Anterior Caudate	brain
48	chr11:85336600-85337000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:85336600-85337200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:85336600-85337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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