Variant report

Variant	esv3426319
Chromosome Location	chr19:36434362-36436860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:305)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr19:36435497-36435665	K562	blood:	n/a	n/a
2	E2F6	chr19:36435426-36435838	K562	blood:	n/a	n/a
3	EGR1	chr19:36435626-36435946	K562	blood:	n/a	n/a
4	EGR1	chr19:36435605-36435960	K562	blood:	n/a	n/a
5	HDAC2	chr19:36435669-36435951	K562	blood:	n/a	n/a
6	HMGN3	chr19:36435510-36435816	K562	blood:	n/a	n/a
7	MAX	chr19:36435344-36435886	K562	blood:	n/a	n/a
8	MAX	chr19:36435430-36435812	K562	blood:	n/a	n/a
9	MAX	chr19:36435523-36435740	K562	blood:	n/a	n/a
10	MAX	chr19:36436340-36436551	K562	blood:	n/a	n/a
11	MYC	chr19:36435450-36435477	MCF-7	breast:	n/a	n/a
12	MYC	chr19:36435674-36435716	MCF-7	breast:	n/a	n/a
13	MYC	chr19:36435503-36435690	K562	blood:	n/a	n/a
14	MYC	chr19:36435485-36435607	MCF-7	breast:	n/a	n/a
15	MYC	chr19:36435531-36435718	K562	blood:	n/a	n/a
16	MYC	chr19:36435532-36435638	K562	blood:	n/a	n/a
17	MYC	chr19:36435623-36435634	MCF-7	breast:	n/a	n/a
18	POLR2A	chr19:36436765-36436882	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:36435498-36435512	MCF-7	breast:	n/a	n/a
20	POLR2A	chr19:36435514-36435621	MCF-7	breast:	n/a	n/a
21	POLR2A	chr19:36435537-36435556	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:36435588-36435610	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:36436753-36436763	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:36436620-36436748	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr19:36436316-36436572	K562	blood:	n/a	n/a
26	RCOR1	chr19:36435620-36435621	K562	blood:	n/a	n/a
27	YY1	chr19:36435437-36435755	K562	blood:	n/a	n/a
28	YY1	chr19:36435466-36435717	K562	blood:	n/a	n/a
29	ZBTB7A	chr19:36435491-36435766	K562	blood:	n/a	n/a
30	ZNF143	chr19:36436381-36436467	Hela-S3	cervix:	n/a	n/a
31	ZNF143	chr19:36436481-36436544	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36435675-36435725	SK-N-MC	brain:	n/a
2	chr19:36435729-36435779	HepG2	liver:	n/a
3	chr19:36435729-36435779	NB4	blood:	n/a
4	chr19:36436010-36436060	HL-60	blood:	n/a
5	chr19:36435729-36435779	HAEpiC	amniotic membrane:	n/a
6	chr19:36435669-36435719	GM12892	blood:	n/a
7	chr19:36435729-36435779	HMEC	breast:	n/a
8	chr19:36435675-36435725	HRCEpiC	kidney:	n/a
9	chr19:36436010-36436060	HRE	kidney:	n/a
10	chr19:36435675-36435725	Hela-S3	cervix:	n/a
11	chr19:36435675-36435725	RPTEC	kidney:	n/a
12	chr19:36435675-36435725	AG04450	lung:	fetal
13	chr19:36436010-36436060	AG09319	gingival:	n/a
14	chr19:36435669-36435719	IMR90	lung:	fetal
15	chr19:36435669-36435719	GM12891	blood:	n/a
16	chr19:36435729-36435779	HCM	heart:	n/a
17	chr19:36436010-36436060	PFSK-1	brain:	n/a
18	chr19:36436010-36436060	RPTEC	kidney:	n/a
19	chr19:36436010-36436060	AG04450	lung:	fetal
20	chr19:36435543-36435593	U87	brain:	n/a
21	chr19:36436010-36436060	PrEC	prostate:	n/a
22	chr19:36435729-36435779	AG09319	gingival:	n/a
23	chr19:36436010-36436060	MCF-7	breast:	n/a
24	chr19:36435543-36435593	MCF-7	breast:	n/a
25	chr19:36435675-36435725	PANC-1	pancreas:	n/a
26	chr19:36435543-36435593	RPTEC	kidney:	n/a
27	chr19:36436010-36436060	HRPEpiC	eye:	n/a
28	chr19:36435729-36435779	BJ	skin:	n/a
29	chr19:36435729-36435779	PANC-1	pancreas:	n/a
30	chr19:36435729-36435779	ProgFib	skin:	n/a
31	chr19:36435669-36435719	K562	blood:	n/a
32	chr19:36435669-36435719	HRCEpiC	kidney:	n/a
33	chr19:36435729-36435779	MCF-7	breast:	n/a
34	chr19:36435543-36435593	HL-60	blood:	n/a
35	chr19:36435543-36435593	NHBE	bronchial:	n/a
36	chr19:36436010-36436060	CMK	blood:	n/a
37	chr19:36435669-36435719	AG09309	skin:	n/a
38	chr19:36435669-36435719	GM19239	blood:	n/a
39	chr19:36435669-36435719	Jurkat	blood:	n/a
40	chr19:36435669-36435719	HepG2	liver:	n/a
41	chr19:36435543-36435593	GM06990	blood:	n/a
42	chr19:36435729-36435779	SK-N-SH_RA	brain:	n/a
43	chr19:36435669-36435719	SKMC	muscle:	n/a
44	chr19:36435543-36435593	HNPCEpiC	eye:	n/a
45	chr19:36435543-36435593	HEEpiC	esophagus:	n/a
46	chr19:36435729-36435779	NT2-D1	testis:	n/a
47	chr19:36435675-36435725	SK-N-SH_RA	brain:	n/a
48	chr19:36435729-36435779	GM12878	blood:	n/a
49	chr19:36435543-36435593	BE2_C	brain:	n/a
50	chr19:36435729-36435779	NH-A	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36427855..36429441-chr19:36432480..36435171,2	MCF-7	breast:
2	chr19:36427493..36430345-chr19:36435418..36438366,3	MCF-7	breast:
3	chr19:36434768..36437556-chr19:36487858..36489977,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267786	TF binding region
ENSG00000267786	CpG island
ENSG00000126243	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184735506	chr19:36434375-36434376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543134116	chr19:36434416-36434417	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535173515	chr19:36434428-36434429	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142540460	chr19:36434463-36434464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375241531	chr19:36434532-36434533	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188323179	chr19:36434566-36434567	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541260670	chr19:36434577-36434578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73928368	chr19:36434579-36434580	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10405033	chr19:36434583-36434584	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553454486	chr19:36434659-36434660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530005124	chr19:36434662-36434663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147375991	chr19:36434667-36434668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571667581	chr19:36434677-36434678	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548562634	chr19:36434719-36434720	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563688885	chr19:36434741-36434742	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530999565	chr19:36434742-36434743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565076886	chr19:36434761-36434762	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150960735	chr19:36434786-36434787	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71354109	chr19:36434809-36434810	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550258132	chr19:36434825-36434826	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528671798	chr19:36434843-36434844	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572062944	chr19:36434873-36434874	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116698543	chr19:36434977-36434978	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568617200	chr19:36435036-36435037	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536159239	chr19:36435054-36435055	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554114411	chr19:36435113-36435114	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191295075	chr19:36435159-36435160	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536681727	chr19:36435174-36435175	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558220004	chr19:36435197-36435198	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576917116	chr19:36435207-36435208	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576990800	chr19:36435258-36435259	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540821491	chr19:36435369-36435370	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377063730	chr19:36435435-36435436	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368024336	chr19:36435462-36435463	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114129252	chr19:36435469-36435470	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199683961	chr19:36435512-36435513	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139681058	chr19:36435528-36435529	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2293756	chr19:36435564-36435565	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545386168	chr19:36435567-36435568	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530913352	chr19:36435586-36435587	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371871382	chr19:36435588-36435589	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs267605442	chr19:36435590-36435591	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs151000979	chr19:36435599-36435600	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374697819	chr19:36435604-36435605	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564423039	chr19:36435615-36435616	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140841436	chr19:36435627-36435628	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115982229	chr19:36435631-36435632	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376643067	chr19:36435647-36435648	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368719235	chr19:36435648-36435649	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113144196	chr19:36435650-36435651	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36428800-36437000	Weak transcription	HSMMtube	muscle
2	chr19:36429000-36438000	Weak transcription	Osteobl	bone
3	chr19:36429200-36435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:36429200-36437000	Weak transcription	Psoas Muscle	Psoas
5	chr19:36429200-36438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36429400-36434800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:36429400-36435400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:36429400-36436200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:36429400-36438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:36429400-36438000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:36429400-36440000	Weak transcription	A549	lung
12	chr19:36429600-36435400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:36429600-36436200	Weak transcription	NHEK	skin
14	chr19:36429600-36436600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:36429600-36438000	Strong transcription	Fetal Stomach	stomach
16	chr19:36429600-36439600	Weak transcription	Fetal Lung	lung
17	chr19:36429600-36444200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:36429800-36435000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:36429800-36438000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:36429800-36438000	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:36429800-36438400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:36429800-36438600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:36429800-36438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:36429800-36441000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:36430000-36450000	Weak transcription	Right Atrium	heart
26	chr19:36430200-36436800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:36430400-36435200	Weak transcription	Fetal Brain Male	brain
28	chr19:36430400-36435600	Strong transcription	Dnd41	blood
29	chr19:36430600-36436600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:36430800-36438400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:36431000-36438000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:36431400-36435400	Weak transcription	Fetal Intestine Large	intestine
33	chr19:36431800-36435000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:36431800-36435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr19:36431800-36435200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:36431800-36435200	Weak transcription	Esophagus	oesophagus
37	chr19:36431800-36435400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:36431800-36437600	Weak transcription	Left Ventricle	heart
39	chr19:36431800-36437800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:36431800-36437800	Weak transcription	Colonic Mucosa	Colon
41	chr19:36431800-36438000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:36431800-36438000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:36431800-36438000	Weak transcription	NHLF	lung
44	chr19:36431800-36438200	Weak transcription	Brain Angular Gyrus	brain
45	chr19:36431800-36438600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:36431800-36440200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:36431800-36440400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr19:36431800-36442800	Weak transcription	Thymus	Thymus
49	chr19:36431800-36443000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:36432000-36435200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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