Variant report

Variant	esv3373368
Chromosome Location	chr7:97502816-97508714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr7:97503987-97504184	GM12878	blood:	n/a	n/a
2	CTCF	chr7:97505508-97505636	LNCaP	prostate:	n/a	n/a
3	FOSL2	chr7:97506931-97507296	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:97507526-97507829	HepG2	liver:	n/a	n/a
5	IRF4	chr7:97503966-97504305	GM12878	blood:	n/a	n/a
6	PAX5	chr7:97504627-97504829	GM12878	blood:	n/a	n/a
7	PAX5	chr7:97506910-97507201	GM12878	blood:	n/a	n/a
8	PBX3	chr7:97504085-97504236	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:97508610-97509198	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:97503387-97504437	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:97505944-97506392	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:97506704-97507446	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr7:97506929-97507193	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:97502943-97502995	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:97504439-97504630	HepG2	liver:	n/a	n/a
16	POU2F2	chr7:97506733-97507243	GM12878	blood:	n/a	n/a
17	POU2F2	chr7:97504549-97504927	GM12878	blood:	n/a	n/a
18	SP1	chr7:97504017-97504315	GM12878	blood:	n/a	n/a
19	TCF3	chr7:97504020-97504231	GM12878	blood:	n/a	n/a
20	ZBTB33	chr7:97506990-97507270	K562	blood:	n/a	n/a
21	ZBTB33	chr7:97506975-97507271	GM12878	blood:	n/a	n/a
22	ZBTB33	chr7:97506880-97507151	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:97505608-97505658	HCM	heart:	n/a
2	chr7:97505608-97505658	HEEpiC	esophagus:	n/a
3	chr7:97505608-97505658	HRPEpiC	eye:	n/a
4	chr7:97505608-97505658	NHBE	bronchial:	n/a
5	chr7:97505608-97505658	MCF-7	breast:	n/a
6	chr7:97505608-97505658	GM06990	blood:	n/a
7	chr7:97505608-97505658	ovcar-3	ovarian:	n/a
8	chr7:97505608-97505658	GM12878	blood:	n/a
9	chr7:97505608-97505658	HepG2	liver:	n/a
10	chr7:97505608-97505658	HNPCEpiC	eye:	n/a
11	chr7:97505608-97505658	U87	brain:	n/a
12	chr7:97505608-97505658	SK-N-MC	brain:	n/a
13	chr7:97505608-97505658	AG09319	gingival:	n/a
14	chr7:97505608-97505658	AoSMC	blood vessel:	n/a
15	chr7:97505608-97505658	HUVEC	blood vessel:	n/a
16	chr7:97505608-97505658	H1-hESC	embryonic stem cell:	embryo
17	chr7:97505608-97505658	BE2_C	brain:	n/a
18	chr7:97505608-97505658	SKMC	muscle:	n/a
19	chr7:97505608-97505658	NH-A	brain:	n/a
20	chr7:97505608-97505658	HRCEpiC	kidney:	n/a
21	chr7:97505608-97505658	SAEC	small airway:	n/a
22	chr7:97505608-97505658	IMR90	lung:	fetal
23	chr7:97505608-97505658	HEK293	kidney:	embryo
24	chr7:97505608-97505658	NB4	blood:	n/a
25	chr7:97505608-97505658	ECC-1	luminal epithelium:	n/a
26	chr7:97505608-97505658	HCF	heart:	n/a
27	chr7:97505608-97505658	ProgFib	skin:	n/a
28	chr7:97505608-97505658	BJ	skin:	n/a
29	chr7:97505608-97505658	K562	blood:	n/a
30	chr7:97505608-97505658	SK-N-SH_RA	brain:	n/a
31	chr7:97505608-97505658	Hepatocyte	liver:	n/a
32	chr7:97505608-97505658	T-47D	breast:	n/a
33	chr7:97505608-97505658	AG04450	lung:	fetal
34	chr7:97505608-97505658	GM12892	blood:	n/a
35	chr7:97505608-97505658	NHDF-neo	bronchial:	n/a
36	chr7:97505608-97505658	GM19239	blood:	n/a
37	chr7:97505608-97505658	PFSK-1	brain:	n/a
38	chr7:97505608-97505658	GM12891	blood:	n/a
39	chr7:97505608-97505658	MCF10A-Er-Src	breast:	n/a
40	chr7:97505608-97505658	PANC-1	pancreas:	n/a
41	chr7:97505608-97505658	Jurkat	blood:	n/a
42	chr7:97505608-97505658	HPAEpiC	pulmonary alveolar:	n/a
43	chr7:97505608-97505658	PrEC	prostate:	n/a
44	chr7:97505608-97505658	AG10803	skin:	n/a
45	chr7:97505608-97505658	HRE	kidney:	n/a
46	chr7:97505608-97505658	NT2-D1	testis:	n/a
47	chr7:97505608-97505658	HMEC	breast:	n/a
48	chr7:97505608-97505658	HCT-116	colon:	n/a
49	chr7:97505608-97505658	Hela-S3	cervix:	n/a
50	chr7:97505608-97505658	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97501305..97502999-chr7:98028998..98030520,2	K562	blood:

No data

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000235982	TF binding region
ASNS	CpG island
ENSG00000235982	CpG island
ENSG00000006453	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539139763	chr7:97502856-97502857	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566995767	chr7:97502880-97502881	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549758467	chr7:97503008-97503009	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571557209	chr7:97503027-97503028	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs538970234	chr7:97503065-97503066	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs142271605	chr7:97503074-97503075	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566101701	chr7:97503082-97503083	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs536314722	chr7:97503087-97503088	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs3757674	chr7:97503140-97503141	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs561419832	chr7:97503217-97503218	Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147914420	chr7:97503433-97503434	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2681164	chr7:97503471-97503472	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558764710	chr7:97503492-97503493	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34980123	chr7:97503494-97503495	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77485454	chr7:97503517-97503518	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75385699	chr7:97503518-97503519	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577104869	chr7:97503556-97503557	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs541351188	chr7:97503560-97503561	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs377447740	chr7:97503601-97503602	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559689007	chr7:97503647-97503648	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74874057	chr7:97503731-97503732	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs13311082	chr7:97503744-97503745	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572019451	chr7:97503755-97503756	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141625531	chr7:97503777-97503778	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561037064	chr7:97503801-97503802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs13311018	chr7:97503804-97503805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10234646	chr7:97503807-97503808	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543588149	chr7:97503855-97503856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10234781	chr7:97503913-97503914	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532420063	chr7:97503929-97503930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs547729762	chr7:97503936-97503937	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs566038217	chr7:97503947-97503948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530109274	chr7:97503958-97503959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548338793	chr7:97503996-97503997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111517880	chr7:97504015-97504016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs183701075	chr7:97504035-97504036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs188417049	chr7:97504057-97504058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570124814	chr7:97504059-97504060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537180721	chr7:97504060-97504061	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558703256	chr7:97504091-97504092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570730303	chr7:97504095-97504096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539699791	chr7:97504118-97504119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202180672	chr7:97504119-97504120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62478047	chr7:97504127-97504128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs28756005	chr7:97504159-97504160	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200788981	chr7:97504176-97504177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553257926	chr7:97504178-97504179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10264151	chr7:97504191-97504192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542601092	chr7:97504203-97504204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375165577	chr7:97504211-97504212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	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
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97501800-97503000	Weak transcription	Esophagus	oesophagus
2	chr7:97501800-97503200	Enhancers	Spleen	Spleen
3	chr7:97502000-97503200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:97502200-97503000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr7:97502200-97503200	Enhancers	HepG2	liver
6	chr7:97502200-97504400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:97502400-97503000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:97502400-97503200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr7:97502600-97503000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr7:97502800-97503000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr7:97502800-97503000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr7:97502800-97503200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr7:97502800-97503200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr7:97502800-97503200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr7:97503000-97503200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
16	chr7:97503000-97503200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr7:97503000-97503200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:97503000-97503200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:97503000-97503200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr7:97503000-97503200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr7:97503000-97503200	Enhancers	Esophagus	oesophagus
22	chr7:97503200-97503400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:97503200-97503400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr7:97503200-97503400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr7:97503200-97503800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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