Variant report

Variant	esv3464331
Chromosome Location	chr11:92967903-92972689
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	ARID3A	chr11:92967850-92968192	HepG2	liver:	n/a	n/a
2	ATF1	chr11:92969984-92970234	K562	blood:	n/a	n/a
3	BHLHE40	chr11:92970675-92970734	K562	blood:	n/a	n/a
4	BRCA1	chr11:92967787-92968087	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr11:92967849-92967924	GM12878	blood:	n/a	n/a
6	BRCA1	chr11:92967771-92968145	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:92967713-92968110	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:92967900-92968050	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr11:92967920-92968070	HVMF	connective:	n/a	n/a
10	CTCF	chr11:92967880-92968030	GM12878	blood:	n/a	n/a
11	CTCF	chr11:92967880-92968030	GM12875	blood:	n/a	n/a
12	CTCF	chr11:92970040-92970190	AoAF	blood vessel:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
13	CTCF	chr11:92967860-92968010	HFF	foreskin:	n/a	n/a
14	CTCF	chr11:92967880-92968030	BJ	skin:	n/a	n/a
15	CTCF	chr11:92969961-92970213	GM12878	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
16	CTCF	chr11:92969850-92970316	MCF-7	breast:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
17	CTCF	chr11:92967880-92968030	HMEC	breast:	n/a	n/a
18	CTCF	chr11:92970000-92970150	GM12874	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
19	CTCF	chr11:92969961-92970183	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
20	CTCF	chr11:92967900-92968050	HL-60	blood:	n/a	n/a
21	CTCF	chr11:92967860-92968010	GM12871	blood:	n/a	n/a
22	CTCF	chr11:92969974-92970197	HUVEC	blood vessel:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
23	CTCF	chr11:92967900-92968050	GM12864	blood:	n/a	n/a
24	CTCF	chr11:92970020-92970170	HEEpiC	esophagus:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
25	CTCF	chr11:92967711-92968166	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:92970020-92970170	HCT-116	colon:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
27	CTCF	chr11:92967820-92968101	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:92967860-92968010	GM12865	blood:	n/a	n/a
29	CTCF	chr11:92967880-92968030	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr11:92970020-92970170	HCPEpiC	choroid plexus:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
31	CTCF	chr11:92969980-92970130	AG04450	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
32	CTCF	chr11:92967811-92968099	GM10266	blood:	n/a	n/a
33	CTCF	chr11:92967811-92968125	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr11:92967860-92968010	HepG2	liver:	n/a	n/a
35	CTCF	chr11:92967860-92968010	GM12872	blood:	n/a	n/a
36	CTCF	chr11:92967791-92968119	GM12892	blood:	n/a	n/a
37	CTCF	chr11:92967664-92968206	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:92970000-92970150	HAc	cerebellar:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
39	CTCF	chr11:92970000-92970150	WERI-Rb-1	eye:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
40	CTCF	chr11:92969804-92970452	K562	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
41	CTCF	chr11:92969860-92970314	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
42	CTCF	chr11:92969980-92970130	BE2_C	brain:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
43	CTCF	chr11:92967799-92968107	GM19240	blood:	n/a	n/a
44	CTCF	chr11:92967807-92968117	GM19239	blood:	n/a	n/a
45	CTCF	chr11:92967860-92968010	HRE	kidney:	n/a	n/a
46	CTCF	chr11:92967802-92968110	Fibrobl	skin:	n/a	n/a
47	CTCF	chr11:92967880-92968030	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr11:92969995-92970192	GM20000	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
49	CTCF	chr11:92967815-92968152	A549	lung:	n/a	n/a
50	CTCF	chr11:92969970-92970211	LNCaP	prostate:	n/a	chr11:92970083-92970096 chr11:92970081-92970099

No.	Distal block	Cell Line	Cell type
1	chr11:92967732..92968419-chr11:93276090..93276599,2	MCF-7	breast:
2	chr11:92969452..92970081-chr11:93276487..93277099,2	K562	blood:
3	chr11:92966947..92969391-chr11:93461362..93463469,2	MCF-7	breast:
4	chr11:92969790..92970518-chr11:93276340..93277045,2	MCF-7	breast:
5	chr11:92969485..92970477-chr11:93354947..93355840,3	MCF-7	breast:
6	chr11:92969639..92970193-chr11:93354991..93355840,3	MCF-7	breast:
7	chr11:92967543..92968491-chr11:93381050..93382178,5	MCF-7	breast:
8	chr11:92967484..92968450-chr11:93381041..93381968,2	MCF-7	breast:
9	chr11:92967004..92969255-chr11:93384967..93385922,6	K562	blood:
10	chr11:92967849..92968562-chr11:93381285..93382522,3	K562	blood:

Variant related genes	Relation type
ENSG00000255233	TF binding region
ENSG00000166002	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs555753376	chr11:92967915-92967916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573916522	chr11:92967916-92967917	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs16918691	chr11:92967918-92967919	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566157712	chr11:92967933-92967934	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370968674	chr11:92967987-92967988	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578235332	chr11:92968006-92968007	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545628015	chr11:92968015-92968016	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563684193	chr11:92968061-92968062	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs151051150	chr11:92968063-92968064	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549380068	chr11:92968102-92968103	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141224906	chr11:92968139-92968140	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572100470	chr11:92968198-92968199	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374260984	chr11:92968216-92968217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544407804	chr11:92968221-92968222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61920522	chr11:92968236-92968237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547138949	chr11:92968283-92968284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535256900	chr11:92968293-92968294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7130024	chr11:92968311-92968312	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7130025	chr11:92968315-92968316	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145021935	chr11:92968318-92968319	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569723425	chr11:92968322-92968323	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138809420	chr11:92968362-92968363	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184252104	chr11:92968363-92968364	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574005456	chr11:92968386-92968387	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535008774	chr11:92968444-92968445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555752170	chr11:92968446-92968447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377766449	chr11:92968462-92968463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141878646	chr11:92968577-92968578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538371591	chr11:92968596-92968597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545490952	chr11:92968667-92968668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557549945	chr11:92968683-92968684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575737318	chr11:92968698-92968699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs371127690	chr11:92968702-92968703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs11020213	chr11:92968709-92968710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546245848	chr11:92969005-92969006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75120046	chr11:92969108-92969109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377621719	chr11:92969115-92969116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116911856	chr11:92969156-92969157	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569865870	chr11:92969185-92969186	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530595747	chr11:92969198-92969199	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188097102	chr11:92969204-92969205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371367081	chr11:92969232-92969233	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549305007	chr11:92969245-92969246	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs567458474	chr11:92969260-92969261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs116885756	chr11:92969264-92969265	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553426044	chr11:92969355-92969356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150371981	chr11:92969402-92969403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112514052	chr11:92969442-92969443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557155710	chr11:92969493-92969494	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138042452	chr11:92969533-92969534	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92967200-92968000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr11:92967400-92968000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:92967600-92968000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:92967600-92968000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:92967800-92968200	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:92969000-92970400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:92969600-92971000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:92969800-92970000	Enhancers	Fetal Intestine Small	intestine
9	chr11:92969800-92970000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:92969800-92970000	Enhancers	Stomach Smooth Muscle	stomach
11	chr11:92969800-92970200	Enhancers	Fetal Lung	lung
12	chr11:92970000-92970200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr11:92970200-92970400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:92970400-92970600	Enhancers	Fetal Intestine Large	intestine
15	chr11:92970400-92970600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr11:92970400-92971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:92970600-92970800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:92970800-92971000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:92971000-92971400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:92971400-92971600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:92971600-92972000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:92972000-92972600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:92972600-92972800	Enhancers	Fetal Intestine Large	intestine

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