Variant report

Variant	esv1809206
Chromosome Location	chr11:67437559-67441553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:67440224-67440380	K562	blood:	n/a	n/a
2	BHLHE40	chr11:67437130-67437820	HepG2	liver:	n/a	n/a
3	CTCF	chr11:67437936-67437982	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr11:67437522-67437624	GM19239	blood:	n/a	n/a
5	EBF1	chr11:67437596-67437833	GM12878	blood:	n/a	n/a
6	GABPA	chr11:67437149-67437794	Hela-S3	cervix:	n/a	n/a
7	IRF4	chr11:67437083-67437950	GM12878	blood:	n/a	n/a
8	IRF4	chr11:67437040-67437912	GM12878	blood:	n/a	n/a
9	NR3C1	chr11:67437065-67437828	A549	lung:	n/a	n/a
10	NR3C1	chr11:67437103-67437679	A549	lung:	n/a	n/a
11	PAX5	chr11:67437539-67437706	GM12878	blood:	n/a	n/a
12	PAX5	chr11:67437103-67437850	GM12878	blood:	n/a	n/a
13	PAX5	chr11:67437566-67437823	GM12878	blood:	n/a	n/a
14	PBX3	chr11:67437536-67437785	GM12878	blood:	n/a	n/a
15	PBX3	chr11:67437618-67437774	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67437864-67438099	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:67438116-67438151	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:67438173-67438178	MCF-7	breast:	n/a	n/a
19	POLR2A	chr11:67437845-67437849	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:67437883-67437921	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:67438181-67438184	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:67437855-67437882	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:67437923-67437925	MCF-7	breast:	n/a	n/a
24	POU2F2	chr11:67437068-67437859	GM12878	blood:	n/a	n/a
25	SIN3AK20	chr11:67437897-67438799	MCF-7	breast:	n/a	n/a
26	SIX5	chr11:67437065-67437803	K562	blood:	n/a	n/a
27	SPI1	chr11:67437482-67437773	K562	blood:	n/a	n/a
28	USF1	chr11:67437190-67437811	A549	lung:	n/a	n/a
29	ZBTB33	chr11:67437027-67437910	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67397074..67400069-chr11:67440700..67443508,3	K562	blood:
2	chr11:67397074..67400069-chr11:67440700..67443508,2	K562	blood:
3	chr11:67434481..67439568-chr11:67439660..67443258,9	MCF-7	breast:
4	chr11:67438405..67443993-chr11:67447780..67452157,7	MCF-7	breast:
5	chr11:67437911..67440480-chr11:67441652..67443889,5	MCF-7	breast:
6	chr11:67434481..67439568-chr11:67439660..67443258,9	MCF-7	breast:
7	chr11:67433386..67435111-chr11:67439487..67442786,3	MCF-7	breast:
8	chr11:67396980..67398688-chr11:67437438..67439851,2	MCF-7	breast:
9	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:

No data

Variant related genes	Relation type
ALDH3B2	TF binding region
ENSG00000239559	chromatin interactions
ENSG00000132746	chromatin interactions
ENSG00000167799	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7483770	chr11:67437559-67437560	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs143413203	chr11:67437563-67437564	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150302558	chr11:67437564-67437565	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs148066701	chr11:67437566-67437567	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs146088084	chr11:67437568-67437569	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs6591272	chr11:67437575-67437576	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111200388	chr11:67437577-67437578	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111211051	chr11:67437580-67437581	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111200389	chr11:67437591-67437592	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7483773	chr11:67437597-67437598	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs200953361	chr11:67437603-67437604	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs6591273	chr11:67437611-67437612	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs376172203	chr11:67437629-67437630	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs372961035	chr11:67437632-67437633	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs4930215	chr11:67437645-67437646	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369633881	chr11:67437664-67437665	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113972525	chr11:67437667-67437668	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs74188636	chr11:67437669-67437670	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573691257	chr11:67437670-67437671	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs4930471	chr11:67437681-67437682	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs74218913	chr11:67437687-67437688	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs74187219	chr11:67437692-67437693	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs74188748	chr11:67437705-67437706	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs559635905	chr11:67437706-67437707	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533114754	chr11:67437708-67437709	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs61894525	chr11:67437719-67437720	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs71457790	chr11:67437723-67437724	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs71457791	chr11:67437725-67437726	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs71457792	chr11:67437728-67437729	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs71457793	chr11:67437733-67437734	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs71457794	chr11:67437736-67437737	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs71058719	chr11:67437738-67437739	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs71461655	chr11:67437741-67437742	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs71461656	chr11:67437745-67437746	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs71457795	chr11:67437749-67437750	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528745463	chr11:67437750-67437751	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs71457796	chr11:67437753-67437754	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545335355	chr11:67437757-67437758	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs550249939	chr11:67437768-67437769	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs563542672	chr11:67437772-67437773	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs61894526	chr11:67437774-67437775	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs373173371	chr11:67437775-67437776	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs567640596	chr11:67437791-67437792	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113150817	chr11:67437794-67437795	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs202234495	chr11:67437801-67437802	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs112767553	chr11:67437820-67437821	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs377623380	chr11:67437823-67437824	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs200831396	chr11:67437835-67437836	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547023873	chr11:67437836-67437837	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs571516171	chr11:67437850-67437851	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67430600-67440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:67431200-67437800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:67434000-67442400	Weak transcription	Fetal Intestine Small	intestine
4	chr11:67434400-67438600	Enhancers	Placenta	Placenta
5	chr11:67435600-67438200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:67435600-67438400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:67436200-67437800	Weak transcription	Thymus	Thymus
8	chr11:67437000-67438400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:67437200-67437800	Weak transcription	Esophagus	oesophagus
10	chr11:67437200-67437800	Weak transcription	Fetal Thymus	thymus
11	chr11:67437200-67441600	Weak transcription	Gastric	stomach
12	chr11:67437400-67437800	Enhancers	Dnd41	blood
13	chr11:67437800-67438000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:67437800-67438000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:67437800-67438000	Enhancers	Fetal Thymus	thymus
16	chr11:67437800-67438000	Flanking Active TSS	Dnd41	blood
17	chr11:67437800-67438400	Enhancers	Thymus	Thymus
18	chr11:67437800-67439000	Genic enhancers	Esophagus	oesophagus
19	chr11:67438000-67438400	Weak transcription	Fetal Thymus	thymus
20	chr11:67438000-67438600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:67438000-67439000	Enhancers	Dnd41	blood
22	chr11:67438000-67442000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:67438200-67438600	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:67438400-67438800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:67438400-67438800	Enhancers	Primary B cells from cord blood	blood
26	chr11:67438400-67439000	Enhancers	Fetal Thymus	thymus
27	chr11:67438600-67439000	Flanking Active TSS	Placenta	Placenta
28	chr11:67438600-67441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:67438800-67440800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:67439000-67440800	Weak transcription	Esophagus	oesophagus
31	chr11:67439000-67441000	Enhancers	Placenta	Placenta
32	chr11:67439000-67442000	Weak transcription	Dnd41	blood
33	chr11:67440800-67441000	Flanking Active TSS	Esophagus	oesophagus
34	chr11:67440800-67441800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:67440800-67443200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:67441000-67441200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:67441000-67441200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:67441000-67441200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr11:67441000-67441400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:67441000-67442200	Active TSS	Esophagus	oesophagus
41	chr11:67441000-67442200	Flanking Active TSS	Placenta	Placenta
42	chr11:67441200-67441400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:67441200-67442200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:67441200-67443200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:67441200-67443400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:67441400-67442200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:67441400-67442600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:67441400-67443000	Enhancers	NHEK	skin
49	chr11:67441400-67443400	Enhancers	Stomach Mucosa	stomach

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