Variant report

Variant	esv3372063
Chromosome Location	chr7:102793600-102796412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr7:102795806-102796232	GM12878	blood:	n/a	chr7:102795999-102796010
2	EBF1	chr7:102795725-102796440	GM12878	blood:	n/a	chr7:102795999-102796010
3	EBF1	chr7:102795744-102796474	GM12878	blood:	n/a	chr7:102795999-102796010
4	FOXA1	chr7:102794489-102794765	HepG2	liver:	n/a	chr7:102794649-102794664
5	FOXA1	chr7:102794510-102794766	HepG2	liver:	n/a	chr7:102794649-102794664
6	FOXA1	chr7:102794493-102794852	HepG2	liver:	n/a	chr7:102794649-102794664
7	FOXA1	chr7:102794513-102794879	HepG2	liver:	n/a	chr7:102794649-102794664
8	FOXA2	chr7:102794534-102794735	HepG2	liver:	n/a	n/a
9	HDAC2	chr7:102793631-102794149	K562	blood:	n/a	n/a
10	HDAC2	chr7:102793770-102794072	K562	blood:	n/a	n/a
11	IRF1	chr7:102796154-102796212	K562	blood:	n/a	n/a
12	IRF1	chr7:102796084-102796374	K562	blood:	n/a	n/a
13	IRF4	chr7:102795999-102796369	GM12878	blood:	n/a	n/a
14	IRF4	chr7:102795912-102796413	GM12878	blood:	n/a	n/a
15	MAX	chr7:102796325-102796341	GM12878	blood:	n/a	n/a
16	MTA3	chr7:102795982-102796525	GM12878	blood:	n/a	n/a
17	MXI1	chr7:102796096-102796343	GM12878	blood:	n/a	n/a
18	PAX5	chr7:102796071-102796445	GM12878	blood:	n/a	n/a
19	PAX5	chr7:102796015-102796352	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:102796048-102796460	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:102796136-102796326	K562	blood:	n/a	n/a
22	POLR2A	chr7:102793138-102793759	PANC-1	pancreas:	n/a	n/a
23	POU2F2	chr7:102796014-102796483	GM12878	blood:	n/a	n/a
24	RCOR1	chr7:102793813-102793985	K562	blood:	n/a	n/a
25	RCOR1	chr7:102793771-102794024	K562	blood:	n/a	n/a
26	RUNX3	chr7:102796002-102796492	GM12878	blood:	n/a	chr7:102796238-102796253 chr7:102796256-102796271
27	RUNX3	chr7:102795877-102796524	GM12878	blood:	n/a	chr7:102796238-102796253 chr7:102796256-102796271
28	SP1	chr7:102796128-102796401	GM12878	blood:	n/a	n/a
29	TCF7L2	chr7:102796123-102796323	PANC-1	pancreas:	n/a	n/a
30	ZNF384	chr7:102795652-102796054	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102759379..102762894-chr7:102787802..102793821,6	K562	blood:
2	chr7:102789269..102791743-chr7:102791840..102795059,5	MCF-7	breast:
3	chr7:102784051..102785716-chr7:102793385..102795157,2	K562	blood:

Variant related genes	Relation type
NAPEPLD	TF binding region
ENSG00000236848	TF binding region
ENSG00000161048	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138129521	chr7:102793602-102793603	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs368437219	chr7:102793612-102793613	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs6978608	chr7:102793643-102793644	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182955572	chr7:102793676-102793677	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs6978467	chr7:102793700-102793701	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185884438	chr7:102793709-102793710	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs541224882	chr7:102793718-102793719	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532344866	chr7:102793719-102793720	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200703894	chr7:102793724-102793725	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530000371	chr7:102793785-102793786	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144709890	chr7:102793807-102793808	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563248334	chr7:102793835-102793836	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs191575006	chr7:102793836-102793837	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs6978540	chr7:102793866-102793867	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570210795	chr7:102793889-102793890	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147150798	chr7:102793960-102793961	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs370620683	chr7:102793971-102793972	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534441150	chr7:102794007-102794008	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs547571787	chr7:102794026-102794027	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs562843557	chr7:102794037-102794038	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs565950968	chr7:102794040-102794041	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536921295	chr7:102794090-102794091	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs6979451	chr7:102794091-102794092	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376020350	chr7:102794102-102794103	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs74188823	chr7:102794123-102794124	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs182660879	chr7:102794208-102794209	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187029263	chr7:102794227-102794228	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374455424	chr7:102794258-102794259	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577390565	chr7:102794272-102794273	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541571745	chr7:102794275-102794276	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528025410	chr7:102794287-102794288	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559562233	chr7:102794295-102794296	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540398191	chr7:102794303-102794304	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369438614	chr7:102794304-102794305	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552730258	chr7:102794309-102794310	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78738249	chr7:102794315-102794316	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368778900	chr7:102794324-102794325	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569019958	chr7:102794329-102794330	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372048905	chr7:102794333-102794334	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139178664	chr7:102794393-102794394	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563427466	chr7:102794397-102794398	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375443818	chr7:102794398-102794399	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73412133	chr7:102794399-102794400	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551735436	chr7:102794400-102794401	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563776419	chr7:102794434-102794435	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528142652	chr7:102794470-102794471	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549485451	chr7:102794475-102794476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116370214	chr7:102794481-102794482	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141522449	chr7:102794483-102794484	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115775087	chr7:102794497-102794498	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	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
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102790200-102793600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:102790200-102793600	Enhancers	HepG2	liver
3	chr7:102790200-102803200	Weak transcription	Gastric	stomach
4	chr7:102790400-102793600	Enhancers	Fetal Intestine Small	intestine
5	chr7:102790400-102794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:102790400-102794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:102790400-102796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:102790800-102795600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:102790800-102795800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:102790800-102795800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:102790800-102796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:102791000-102794000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:102791000-102795600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:102791000-102795800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:102791000-102795800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:102791000-102795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:102791000-102796200	Weak transcription	Spleen	Spleen
18	chr7:102791200-102794000	Weak transcription	GM12878-XiMat	blood
19	chr7:102791200-102794200	Enhancers	Fetal Intestine Large	intestine
20	chr7:102791200-102794800	Enhancers	K562	blood
21	chr7:102792200-102796000	Weak transcription	Small Intestine	intestine
22	chr7:102792400-102794600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:102792600-102794000	Weak transcription	Stomach Mucosa	stomach
24	chr7:102793000-102794400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:102793200-102793800	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:102793200-102794200	Active TSS	Brain Hippocampus Middle	brain
27	chr7:102793200-102794400	Enhancers	Colonic Mucosa	Colon
28	chr7:102793200-102794600	Active TSS	Brain Anterior Caudate	brain
29	chr7:102793400-102794000	Active TSS	Liver	Liver
30	chr7:102793400-102794200	Active TSS	Brain Cingulate Gyrus	brain
31	chr7:102793400-102796000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:102793600-102793800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:102793600-102794000	Weak transcription	HepG2	liver
34	chr7:102793800-102794000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:102794000-102794200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:102794000-102794200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:102794000-102794200	Enhancers	GM12878-XiMat	blood
38	chr7:102794000-102794400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:102794000-102794400	Enhancers	Stomach Mucosa	stomach
40	chr7:102794000-102794600	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:102794000-102794600	Enhancers	HepG2	liver
42	chr7:102794000-102794800	Flanking Active TSS	Liver	Liver
43	chr7:102794200-102794400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:102794200-102794600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:102794200-102794800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:102794200-102795200	Weak transcription	GM12878-XiMat	blood
47	chr7:102794200-102796000	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:102794600-102794800	Enhancers	Fetal Intestine Large	intestine
49	chr7:102794600-102795800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:102794600-102796000	Weak transcription	Brain Anterior Caudate	brain

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