Variant report

Variant	nsv514630
Chromosome Location	chr11:62364716-62365660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62364571-62364911	K562	blood:	n/a	n/a
2	POLR2A	chr11:62364929-62365262	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:62365375-62365903	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:62365190-62365194	K562	blood:	n/a	n/a
5	POLR2A	chr11:62365475-62365820	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:62364432-62366053	K562	blood:	n/a	n/a
7	POLR2A	chr11:62365155-62365211	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:62365291-62366171	K562	blood:	n/a	n/a
9	POLR2A	chr11:62364912-62364919	K562	blood:	n/a	n/a
10	POLR2A	chr11:62364957-62366033	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:62364975-62365833	K562	blood:	n/a	n/a
12	POLR2A	chr11:62364935-62365915	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:62365526-62365829	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:62365530-62365701	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:62365302-62365957	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:62365391-62367066	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:62365212-62365791	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62365104-62365154	A549	lung:	n/a
2	chr11:62365104-62365154	AG04450	lung:	fetal
3	chr11:62365104-62365154	HAEpiC	amniotic membrane:	n/a
4	chr11:62365104-62365154	SK-N-SH	brain:	n/a
5	chr11:62365104-62365154	ovcar-3	ovarian:	n/a
6	chr11:62365104-62365154	PFSK-1	brain:	n/a
7	chr11:62365104-62365154	HCF	heart:	n/a
8	chr11:62365104-62365154	GM12891	blood:	n/a
9	chr11:62365104-62365154	Hepatocyte	liver:	n/a
10	chr11:62365104-62365154	IMR90	lung:	fetal
11	chr11:62365104-62365154	GM12892	blood:	n/a
12	chr11:62365104-62365154	AG09319	gingival:	n/a
13	chr11:62365104-62365154	AG04449	skin:	fetal
14	chr11:62365104-62365154	GM06990	blood:	n/a
15	chr11:62365104-62365154	HRE	kidney:	n/a
16	chr11:62365104-62365154	HCM	heart:	n/a
17	chr11:62365104-62365154	ProgFib	skin:	n/a
18	chr11:62365104-62365154	HNPCEpiC	eye:	n/a
19	chr11:62365104-62365154	HUVEC	blood vessel:	n/a
20	chr11:62365104-62365154	GM12878	blood:	n/a
21	chr11:62365104-62365154	H1-hESC	embryonic stem cell:	embryo
22	chr11:62365104-62365154	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:62365104-62365154	MCF-7	breast:	n/a
24	chr11:62365104-62365154	GM19239	blood:	n/a
25	chr11:62365104-62365154	HMEC	breast:	n/a
26	chr11:62365104-62365154	MCF10A-Er-Src	breast:	n/a
27	chr11:62365104-62365154	HEK293	kidney:	embryo
28	chr11:62365104-62365154	HRPEpiC	eye:	n/a
29	chr11:62365104-62365154	SK-N-MC	brain:	n/a
30	chr11:62365104-62365154	BJ	skin:	n/a
31	chr11:62365104-62365154	NHBE	bronchial:	n/a
32	chr11:62365104-62365154	NHDF-neo	bronchial:	n/a
33	chr11:62365104-62365154	LNCaP	prostate:	n/a
34	chr11:62365104-62365154	NT2-D1	testis:	n/a
35	chr11:62365104-62365154	HEEpiC	esophagus:	n/a
36	chr11:62365104-62365154	AG09309	skin:	n/a
37	chr11:62365104-62365154	AG10803	skin:	n/a
38	chr11:62365104-62365154	HRCEpiC	kidney:	n/a
39	chr11:62365104-62365154	Caco-2	colon:	n/a
40	chr11:62365104-62365154	SKMC	muscle:	n/a
41	chr11:62365104-62365154	T-47D	breast:	n/a
42	chr11:62365104-62365154	HIPEpiC	eye:	n/a
43	chr11:62365104-62365154	SAEC	small airway:	n/a
44	chr11:62365104-62365154	K562	blood:	n/a
45	chr11:62365104-62365154	PANC-1	pancreas:	n/a
46	chr11:62365104-62365154	NH-A	brain:	n/a
47	chr11:62365104-62365154	RPTEC	kidney:	n/a
48	chr11:62365104-62365154	U87	brain:	n/a
49	chr11:62365104-62365154	AoSMC	blood vessel:	n/a
50	chr11:62365104-62365154	CMK	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
2	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
3	chr11:62363761..62365656-chr11:62386783..62389949,3	MCF-7	breast:
4	chr11:62363862..62365574-chr11:62493189..62495002,2	MCF-7	breast:
5	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
6	chr11:62365249..62367009-chr11:62521402..62523143,2	K562	blood:
7	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
8	chr11:62340363..62343212-chr11:62365252..62369475,4	MCF-7	breast:
9	chr11:62365424..62367728-chr11:62413589..62415522,2	K562	blood:
10	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
11	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
12	chr11:62363615..62365429-chr11:62413862..62415924,2	MCF-7	breast:
13	chr11:62364986..62367408-chr11:62393044..62395358,2	MCF-7	breast:
14	chr11:62364982..62366719-chr11:62418980..62421459,2	K562	blood:
15	chr11:62362771..62365584-chr11:62461713..62463985,2	K562	blood:
16	chr11:62362245..62364741-chr11:62437553..62440349,2	K562	blood:

No data

Variant related genes	Relation type
MTA2	TF binding region
MTA2	CpG island
ENSG00000149541	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000168000	chromatin interactions
ENSG00000204922	chromatin interactions
ENSG00000089597	chromatin interactions
ENSG00000185670	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000214753	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000234857	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000162194	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370974109	chr11:62364757-62364758	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs374390633	chr11:62364763-62364764	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs143711288	chr11:62364800-62364801	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs541788951	chr11:62364856-62364857	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs144283248	chr11:62364863-62364864	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs530147206	chr11:62364884-62364885	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs200018344	chr11:62364891-62364892	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs199964262	chr11:62364916-62364917	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs148720441	chr11:62365025-62365026	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs368986643	chr11:62365054-62365055	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs34385020	chr11:62365082-62365083	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs148112737	chr11:62365100-62365101	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs373344255	chr11:62365104-62365105	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs141754862	chr11:62365105-62365106	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs34121243	chr11:62365160-62365161	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs202176187	chr11:62365218-62365219	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs201177812	chr11:62365234-62365235	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs77504267	chr11:62365238-62365239	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs547321753	chr11:62365349-62365350	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs59314885	chr11:62365359-62365360	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536126938	chr11:62365414-62365415	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs556138492	chr11:62365422-62365423	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs112991644	chr11:62365426-62365427	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs375463918	chr11:62365445-62365446	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs200558127	chr11:62365455-62365456	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs201109167	chr11:62365478-62365479	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs201713567	chr11:62365481-62365482	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs376841249	chr11:62365505-62365506	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs370573471	chr11:62365507-62365508	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs558679468	chr11:62365563-62365564	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs202171761	chr11:62365580-62365581	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs113420813	chr11:62365581-62365582	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs375292638	chr11:62365584-62365585	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs138662870	chr11:62365595-62365596	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs11231155	chr11:62365619-62365620	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs371563334	chr11:62365622-62365623	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs374982235	chr11:62365655-62365656	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 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:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62359800-62368200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62360200-62366200	Strong transcription	Osteobl	bone
3	chr11:62360200-62366400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:62360200-62367200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:62360200-62367200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:62360400-62365200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:62360400-62366000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:62360400-62366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:62360400-62366200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:62360400-62366200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr11:62360400-62366200	Strong transcription	NH-A	brain
12	chr11:62360400-62367400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:62360600-62366000	Strong transcription	Fetal Stomach	stomach
14	chr11:62360600-62366200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:62360600-62366200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:62360600-62366200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:62360600-62366200	Strong transcription	NHLF	lung
18	chr11:62360800-62366200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:62360800-62366200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr11:62360800-62366200	Strong transcription	Colon Smooth Muscle	Colon
21	chr11:62360800-62366200	Strong transcription	HSMM	muscle
22	chr11:62360800-62366600	Strong transcription	Esophagus	oesophagus
23	chr11:62361000-62366200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:62361000-62366200	Strong transcription	Liver	Liver
25	chr11:62361000-62366200	Strong transcription	Fetal Intestine Small	intestine
26	chr11:62361000-62366200	Strong transcription	Left Ventricle	heart
27	chr11:62361000-62366400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:62361000-62366600	Strong transcription	Fetal Intestine Large	intestine
29	chr11:62361000-62366800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:62361200-62365000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:62361200-62365800	Strong transcription	Aorta	Aorta
32	chr11:62361200-62365800	Strong transcription	Ovary	ovary
33	chr11:62361200-62365800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr11:62361200-62366000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:62361200-62366000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr11:62361200-62366000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:62361200-62366000	Strong transcription	Fetal Lung	lung
38	chr11:62361200-62366000	Strong transcription	HepG2	liver
39	chr11:62361200-62366200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:62361200-62366200	Strong transcription	Rectal Smooth Muscle	rectum
41	chr11:62361200-62366200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:62361200-62366400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:62361200-62366400	Strong transcription	HSMMtube	muscle
44	chr11:62361200-62366600	Strong transcription	Colonic Mucosa	Colon
45	chr11:62361200-62366600	Strong transcription	Lung	lung
46	chr11:62361400-62365400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:62361400-62365600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:62361400-62365600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:62361400-62365800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:62361400-62365800	Strong transcription	Pancreas	Pancrea

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