Variant report

Variant	esv3335310
Chromosome Location	chr11:62479698-62480053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
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	POLR2A	chr11:62479712-62480494	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:62479879-62479880	K562	blood:	n/a	n/a
3	POLR2A	chr11:62479991-62480111	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:62317852..62319388-chr11:62478445..62480684,2	K562	blood:
2	chr11:62317237..62320171-chr11:62478237..62479875,2	MCF-7	breast:
3	chr11:62478801..62480600-chr11:62621943..62623453,2	K562	blood:
4	chr11:62477768..62480971-chr11:62606879..62609524,3	MCF-7	breast:
5	chr11:62444457..62447328-chr11:62478467..62482527,4	MCF-7	breast:
6	chr11:62431038..62433428-chr11:62479339..62481020,3	K562	blood:
7	chr11:62431038..62433428-chr11:62479339..62481464,4	K562	blood:
8	chr11:62478801..62481755-chr11:62620626..62623453,3	K562	blood:
9	chr11:62435703..62437436-chr11:62479698..62482195,2	K562	blood:

No data

Variant related genes	Relation type
BSCL2	TF binding region
ENSG00000206597	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000162191	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000214756	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557512979	chr11:62479706-62479707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs564483794	chr11:62479749-62479750	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs533312028	chr11:62479770-62479771	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs547060385	chr11:62479772-62479773	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs376186423	chr11:62479773-62479774	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs79535306	chr11:62479800-62479801	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs528319067	chr11:62479827-62479828	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs549312	chr11:62479846-62479847	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs137857372	chr11:62479863-62479864	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs370835856	chr11:62479879-62479880	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs11604660	chr11:62479886-62479887	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs537320267	chr11:62479914-62479915	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs556731025	chr11:62479919-62479920	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs374001707	chr11:62479959-62479960	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs143741640	chr11:62479964-62479965	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs185963310	chr11:62479971-62479972	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs191234984	chr11:62479972-62479973	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs73483965	chr11:62479977-62479978	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34568019	chr11:62479988-62479989	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs375028283	chr11:62479990-62479991	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs527628276	chr11:62479991-62479992	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs553036956	chr11:62480032-62480033	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	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
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62476200-62489200	Strong transcription	HepG2	liver
2	chr11:62476800-62480600	Strong transcription	K562	blood
3	chr11:62477000-62480600	Strong transcription	Hela-S3	cervix
4	chr11:62477400-62493000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:62477600-62480800	Weak transcription	Ovary	ovary
6	chr11:62477600-62489200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:62477800-62479800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:62477800-62480000	Genic enhancers	Pancreas	Pancrea
9	chr11:62477800-62480400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:62477800-62481000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:62477800-62481000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:62477800-62481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:62477800-62484200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:62477800-62484600	Genic enhancers	Fetal Intestine Large	intestine
15	chr11:62477800-62484800	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:62477800-62487200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:62477800-62491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:62477800-62491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:62477800-62491400	Strong transcription	NHEK	skin
20	chr11:62477800-62491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:62477800-62491600	Strong transcription	Thymus	Thymus
22	chr11:62477800-62491600	Strong transcription	NH-A	brain
23	chr11:62478000-62479800	Weak transcription	Primary B cells from cord blood	blood
24	chr11:62478000-62480000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:62478000-62480000	Genic enhancers	Liver	Liver
26	chr11:62478000-62480600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:62478000-62481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:62478000-62481000	Weak transcription	Right Ventricle	heart
29	chr11:62478000-62481000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:62478000-62481200	Strong transcription	NHLF	lung
31	chr11:62478000-62481800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:62478000-62482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:62478000-62489400	Strong transcription	Fetal Lung	lung
34	chr11:62478000-62489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:62478000-62489600	Strong transcription	Esophagus	oesophagus
36	chr11:62478000-62491200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:62478000-62491200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:62478000-62491400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:62478000-62491400	Strong transcription	HMEC	breast
40	chr11:62478000-62491600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:62478000-62491600	Strong transcription	Fetal Kidney	kidney
42	chr11:62478000-62491600	Strong transcription	Osteobl	bone
43	chr11:62478000-62491800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:62478000-62491800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:62478000-62491800	Strong transcription	HSMM	muscle
46	chr11:62478000-62492000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:62478000-62492200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:62478200-62479800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:62478200-62479800	Weak transcription	Spleen	Spleen
50	chr11:62478200-62479800	Strong transcription	A549	lung

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