Variant report

Variant	esv3520234
Chromosome Location	chr7:98971177-98971383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98971078-98973804	HepG2	liver:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
2	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
3	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
4	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
5	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
6	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
7	chr7:98971244..98973231-chr7:98989224..98993180,5	MCF-7	breast:
8	chr7:98923206..98924865-chr7:98971213..98972924,2	MCF-7	breast:
9	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
10	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
11	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
12	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
13	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
14	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
15	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
16	chr7:98954568..98956787-chr7:98970778..98974586,3	K562	blood:
17	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:
18	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:
19	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106244	chromatin interactions
ENSG00000106246	chromatin interactions
ENSG00000130429	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000106245	chromatin interactions
ENSG00000160917	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 91 )

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	rs570410537	chr7:98971189-98971190	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs372739542	chr7:98971201-98971202	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs535723832	chr7:98971208-98971209	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs13240962	chr7:98971217-98971218	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs537235136	chr7:98971226-98971227	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs57644703	chr7:98971244-98971245	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs558923406	chr7:98971260-98971261	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs571040584	chr7:98971262-98971263	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs534878775	chr7:98971263-98971264	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs553835628	chr7:98971264-98971265	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs571768226	chr7:98971267-98971268	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs60950441	chr7:98971271-98971272	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs554139136	chr7:98971274-98971275	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs575959619	chr7:98971285-98971286	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs13226604	chr7:98971320-98971321	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567546945	chr7:98971329-98971330	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs532354801	chr7:98971332-98971333	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs534638810	chr7:98971333-98971334	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs553708285	chr7:98971335-98971336	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs138432082	chr7:98971338-98971339	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs548632134	chr7:98971367-98971368	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs570053450	chr7:98971375-98971376	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:98953800-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:98955000-98971600	Weak transcription	Right Atrium	heart
5	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
7	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98962800-98971400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:98964800-98971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:98964800-98971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:98965000-98971400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:98965000-98971600	Weak transcription	HMEC	breast
16	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
18	chr7:98965200-98971400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:98965200-98971400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:98965200-98971400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:98965200-98971400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:98965200-98971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:98965200-98971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:98965200-98971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:98965200-98971600	Weak transcription	Aorta	Aorta
26	chr7:98965200-98971600	Weak transcription	Esophagus	oesophagus
27	chr7:98965200-98971600	Weak transcription	Gastric	stomach
28	chr7:98965200-98971600	Weak transcription	HUVEC	blood vessel
29	chr7:98965200-98971800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:98965400-98971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:98966600-98971200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:98966600-98971600	Weak transcription	GM12878-XiMat	blood
33	chr7:98966800-98971600	Weak transcription	Dnd41	blood
34	chr7:98966800-98971800	Weak transcription	Hela-S3	cervix
35	chr7:98967000-98971400	Weak transcription	A549	lung
36	chr7:98967200-98971600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:98967400-98971800	Weak transcription	Brain Germinal Matrix	brain
38	chr7:98967600-98971600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:98968200-98971400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:98968200-98971800	Weak transcription	HSMMtube	muscle
41	chr7:98968400-98971600	Weak transcription	Fetal Stomach	stomach
42	chr7:98968600-98971400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:98968800-98971400	Weak transcription	K562	blood
44	chr7:98969000-98971600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:98969400-98971600	Enhancers	Fetal Muscle Trunk	muscle
46	chr7:98969600-98971600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:98970000-98971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:98970200-98971400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:98970200-98971400	Enhancers	Adipose Nuclei	Adipose
50	chr7:98970200-98971400	Enhancers	Monocytes-CD14+_RO01746	blood

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