Variant report

Variant	esv3341990
Chromosome Location	chr11:62624304-62624658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:62620648-62624364	IMR90	lung:	n/a	chr11:62623537-62623544
2	CHD1	chr11:62622008-62624329	GM12878	blood:	n/a	chr11:62623537-62623544
3	CHD1	chr11:62618861-62624465	H1-hESC	embryonic stem cell:	n/a	chr11:62623537-62623544
4	CTCF	chr11:62624645-62624685	GM10248	blood:	n/a	n/a
5	CUX1	chr11:62621735-62624342	K562	blood:	n/a	chr11:62622175-62622184
6	GTF3C2	chr11:62623982-62624622	Hela-S3	cervix:	n/a	n/a
7	HCFC1	chr11:62618424-62624359	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr11:62618343-62624934	K562	blood:	n/a	n/a
9	IRF1	chr11:62624281-62624381	K562	blood:	n/a	n/a
10	MAX	chr11:62622547-62624336	A549	lung:	n/a	n/a
11	MAX	chr11:62621557-62624350	A549	lung:	n/a	n/a
12	MAX	chr11:62622226-62624367	HCT-116	colon:	n/a	n/a
13	MAX	chr11:62624640-62625016	K562	blood:	n/a	n/a
14	MTA3	chr11:62620597-62624422	GM12878	blood:	n/a	n/a
15	MXI1	chr11:62620640-62624491	SK-N-SH	brain:	n/a	n/a
16	MYC	chr11:62622655-62624335	A549	lung:	n/a	n/a
17	NR2F2	chr11:62624570-62625009	K562	blood:	n/a	n/a
18	PML	chr11:62620639-62624369	GM12878	blood:	n/a	chr11:62621884-62621892
19	POLR2A	chr11:62617721-62624372	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:62617217-62624356	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:62624500-62626198	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:62614241-62624321	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:62617697-62624345	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:62618403-62625433	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:62620342-62624325	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr11:62617607-62624383	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:62617309-62624309	MCF-7	breast:	n/a	n/a
28	POLR2A	chr11:62620276-62624387	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:62620269-62624353	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:62618405-62624343	K562	blood:	n/a	n/a
31	POLR2A	chr11:62624506-62625177	K562	blood:	n/a	n/a
32	POLR2A	chr11:62618403-62624340	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:62617624-62625492	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr11:62624505-62625398	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:62618405-62624320	K562	blood:	n/a	n/a
36	POLR2A	chr11:62624507-62625160	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:62617656-62624401	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:62624494-62624813	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:62624637-62625073	K562	blood:	n/a	n/a
40	POLR2A	chr11:62624563-62625383	K562	blood:	n/a	n/a
41	POLR2A	chr11:62620391-62624313	HL-60	blood:	n/a	n/a
42	POLR2A	chr11:62617286-62625531	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr11:62617682-62625430	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr11:62624296-62624498	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:62617323-62624399	K562	blood:	n/a	n/a
46	POLR2A	chr11:62618353-62624340	K562	blood:	n/a	n/a
47	POLR2A	chr11:62617338-62625222	HepG2	liver:	n/a	n/a
48	REST	chr11:62622227-62624438	H1-neurons	neurons:	n/a	n/a
49	RPC155	chr11:62623970-62624628	Hela-S3	cervix:	n/a	n/a
50	RUNX3	chr11:62622224-62624373	GM12878	blood:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62621913..62624821-chr17:57922662..57925594,2	MCF-7	breast:
2	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
3	chr11:62474385..62478486-chr11:62621122..62625313,5	MCF-7	breast:
4	chr11:62432496..62434344-chr11:62623258..62625470,4	K562	blood:
5	chr11:62623008..62624324-chr3:49395247..49395868,3	Hela-S3	cervix:
6	chr11:62526685..62530530-chr11:62620957..62624924,5	K562	blood:
7	chr11:62493159..62495020-chr11:62623607..62625320,2	MCF-7	breast:
8	chr11:62431862..62434344-chr11:62623258..62625462,3	K562	blood:
9	chr11:62488201..62492065-chr11:62621719..62624928,3	MCF-7	breast:
10	chr11:62359506..62362353-chr11:62619695..62624770,4	K562	blood:
11	chr11:62476521..62478365-chr11:62623672..62625247,2	MCF-7	breast:
12	chr11:62492343..62497215-chr11:62619514..62625025,15	MCF-7	breast:
13	chr11:62431791..62434160-chr11:62621539..62624310,3	MCF-7	breast:
14	chr11:62365951..62369565-chr11:62622521..62625872,5	K562	blood:
15	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
16	chr11:62357996..62360027-chr11:62622057..62624821,2	K562	blood:
17	chr11:62357691..62360390-chr11:62623455..62624975,2	MCF-7	breast:
18	chr11:62473688..62475805-chr11:62622758..62625720,5	K562	blood:
19	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
20	chr11:62621914..62624685-chr8:87526558..87528139,2	MCF-7	breast:
21	chr11:62492410..62497148-chr11:62620379..62625675,11	K562	blood:
22	chr11:62543432..62547564-chr11:62620532..62624657,4	K562	blood:
23	chr11:62622647..62624760-chr17:56735142..56736993,2	MCF-7	breast:
24	chr11:62388618..62392022-chr11:62621970..62625527,4	K562	blood:
25	chr11:62339818..62342516-chr11:62622172..62625340,3	MCF-7	breast:
26	chr11:62622571..62624950-chr17:56708103..56709921,2	MCF-7	breast:
27	chr11:62552943..62561747-chr11:62616572..62625876,31	K562	blood:
28	chr11:62565367..62576307-chr11:62617328..62626616,39	K562	blood:
29	chr11:62536052..62541340-chr11:62621462..62624868,6	K562	blood:
30	chr11:62492410..62497430-chr11:62621392..62625675,11	K562	blood:
31	chr11:62339984..62344096-chr11:62621681..62625316,4	K562	blood:
32	chr11:62473263..62476310-chr11:62622744..62625720,5	K562	blood:
33	chr11:62355177..62359057-chr11:62621096..62624754,3	K562	blood:

No data

Variant related genes	Relation type
SNHG1	TF binding region
ENSG00000269463	chromatin interactions
ENSG00000176623	chromatin interactions
ENSG00000168000	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000162227	chromatin interactions
ENSG00000149016	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000162222	chromatin interactions
ENSG00000255508	chromatin interactions
ENSG00000269176	chromatin interactions
ENSG00000168569	chromatin interactions
ENSG00000085719	chromatin interactions
ENSG00000149499	chromatin interactions
ENSG00000234857	chromatin interactions
ENSG00000168002	chromatin interactions
ENSG00000267811	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000162188	chromatin interactions
ENSG00000233276	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000214753	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000149480	chromatin interactions
ENSG00000149541	chromatin interactions
ENSG00000162231	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80297168	chr11:62624313-62624314	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
2	rs376221219	chr11:62624314-62624315	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
3	rs186576017	chr11:62624321-62624322	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
4	rs536482431	chr11:62624324-62624325	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
5	rs556187761	chr11:62624337-62624338	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
6	rs547803044	chr11:62624342-62624343	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
7	rs479958	chr11:62624349-62624350	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
8	rs372368881	chr11:62624355-62624356	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
9	rs538590306	chr11:62624361-62624362	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
10	rs183221560	chr11:62624367-62624368	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
11	rs571757906	chr11:62624376-62624377	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
12	rs541306783	chr11:62624389-62624390	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
13	rs554877128	chr11:62624457-62624458	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
14	rs574658223	chr11:62624467-62624468	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
15	rs186744768	chr11:62624496-62624497	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
16	rs189644244	chr11:62624502-62624503	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
17	rs376063528	chr11:62624549-62624550	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
18	rs563756985	chr11:62624561-62624562	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
19	rs370384189	chr11:62624599-62624600	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
20	rs577071	chr11:62624632-62624633	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546318132	chr11:62624633-62624634	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Intracranial arachnoid cysts	20187927	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62620600-62626000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:62620800-62626000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:62621400-62624400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:62621800-62624600	Active TSS	Fetal Intestine Small	intestine
5	chr11:62621800-62624600	Active TSS	Small Intestine	intestine
6	chr11:62622200-62624600	Active TSS	Pancreas	Pancrea
7	chr11:62622200-62624800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:62622200-62624800	Active TSS	Fetal Brain Female	brain
9	chr11:62622200-62625000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:62622400-62624400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:62622400-62624400	Active TSS	Fetal Stomach	stomach
12	chr11:62622400-62624600	Active TSS	Fetal Intestine Large	intestine
13	chr11:62622400-62625600	Active TSS	GM12878-XiMat	blood
14	chr11:62622600-62624400	Active TSS	NHDF-Ad	bronchial
15	chr11:62622600-62624600	Active TSS	HUVEC	blood vessel
16	chr11:62622600-62625200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:62622800-62624400	Active TSS	Brain Anterior Caudate	brain
18	chr11:62622800-62624400	Active TSS	Fetal Kidney	kidney
19	chr11:62622800-62624800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:62622800-62624800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:62622800-62625000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:62622800-62625600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:62622800-62625600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:62623000-62624400	Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:62623000-62624400	Active TSS	HSMM	muscle
26	chr11:62623000-62625200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:62623000-62625200	Active TSS	Hela-S3	cervix
28	chr11:62623000-62625400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:62623000-62626000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:62623000-62626400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:62623000-62626400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:62623000-62626600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:62623000-62627000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:62623200-62624600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:62623200-62624600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:62623200-62625000	Active TSS	K562	blood
37	chr11:62623200-62625200	Active TSS	A549	lung
38	chr11:62623200-62625600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:62623200-62625800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:62623200-62626400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:62623200-62626400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr11:62623200-62627000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:62623400-62624400	Active TSS	Fetal Lung	lung
44	chr11:62623600-62624400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:62623600-62624400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:62623600-62624400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr11:62623600-62624400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr11:62623600-62624400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:62623600-62624400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:62623600-62624400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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