Variant report

Variant	esv1820478
Chromosome Location	chr6:114224070-114226445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:114225041-114225347	HepG2	liver:	n/a	n/a
2	CTCF	chr6:114225324-114225372	GM20000	blood:	n/a	n/a
3	ELF1	chr6:114225156-114225407	K562	blood:	n/a	chr6:114225254-114225267
4	KAP1	chr6:114225180-114225355	U2OS	brain:	n/a	n/a
5	POLR2A	chr6:114225047-114225438	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr6:114224954-114225056	GM12878	blood:	n/a	n/a
7	REST	chr6:114224852-114225121	K562	blood:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
8	REST	chr6:114224907-114225127	SK-N-SH	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
9	REST	chr6:114224710-114225535	PFSK-1	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
10	REST	chr6:114224790-114225474	PFSK-1	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
11	SIN3AK20	chr6:114224922-114225393	PFSK-1	brain:	n/a	n/a
12	SIN3AK20	chr6:114225057-114225472	PFSK-1	brain:	n/a	n/a
13	TAF1	chr6:114224940-114225435	PFSK-1	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:114225012-114225062	T-47D	breast:	n/a
2	chr6:114225023-114225073	NHBE	bronchial:	n/a
3	chr6:114225012-114225062	GM19239	blood:	n/a
4	chr6:114225012-114225062	HRPEpiC	eye:	n/a
5	chr6:114225023-114225073	AG04450	lung:	fetal
6	chr6:114225306-114225356	U87	brain:	n/a
7	chr6:114225023-114225073	HIPEpiC	eye:	n/a
8	chr6:114225306-114225356	ProgFib	skin:	n/a
9	chr6:114225306-114225356	HAEpiC	amniotic membrane:	n/a
10	chr6:114225012-114225062	GM12891	blood:	n/a
11	chr6:114225012-114225062	SAEC	small airway:	n/a
12	chr6:114225306-114225356	Caco-2	colon:	n/a
13	chr6:114225023-114225073	MCF10A-Er-Src	breast:	n/a
14	chr6:114225306-114225356	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:114225306-114225356	SKMC	muscle:	n/a
16	chr6:114225023-114225073	HRE	kidney:	n/a
17	chr6:114225012-114225062	GM12878	blood:	n/a
18	chr6:114225012-114225062	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:114225012-114225062	Jurkat	blood:	n/a
20	chr6:114225023-114225073	SKMC	muscle:	n/a
21	chr6:114225012-114225062	HepG2	liver:	n/a
22	chr6:114225012-114225062	NB4	blood:	n/a
23	chr6:114225023-114225073	GM12878	blood:	n/a
24	chr6:114225023-114225073	SK-N-MC	brain:	n/a
25	chr6:114225012-114225062	HCM	heart:	n/a
26	chr6:114225023-114225073	AG09319	gingival:	n/a
27	chr6:114225012-114225062	HAEpiC	amniotic membrane:	n/a
28	chr6:114225306-114225356	PFSK-1	brain:	n/a
29	chr6:114225012-114225062	MCF-7	breast:	n/a
30	chr6:114225306-114225356	GM12891	blood:	n/a
31	chr6:114225012-114225062	ovcar-3	ovarian:	n/a
32	chr6:114225306-114225356	GM12892	blood:	n/a
33	chr6:114225306-114225356	BE2_C	brain:	n/a
34	chr6:114225306-114225356	HEK293	kidney:	embryo
35	chr6:114225306-114225356	AG04450	lung:	fetal
36	chr6:114225012-114225062	SK-N-MC	brain:	n/a
37	chr6:114225012-114225062	SK-N-SH	brain:	n/a
38	chr6:114225306-114225356	Jurkat	blood:	n/a
39	chr6:114225023-114225073	Hela-S3	cervix:	n/a
40	chr6:114225306-114225356	HepG2	liver:	n/a
41	chr6:114225012-114225062	RPTEC	kidney:	n/a
42	chr6:114225012-114225062	AG04450	lung:	fetal
43	chr6:114225012-114225062	BJ	skin:	n/a
44	chr6:114225023-114225073	RPTEC	kidney:	n/a
45	chr6:114225306-114225356	SK-N-SH_RA	brain:	n/a
46	chr6:114225012-114225062	LNCaP	prostate:	n/a
47	chr6:114225012-114225062	H1-hESC	embryonic stem cell:	embryo
48	chr6:114225012-114225062	HL-60	blood:	n/a
49	chr6:114225023-114225073	BJ	skin:	n/a
50	chr6:114225306-114225356	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114218743..114220678-chr6:114223116..114225137,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-1	chr6:114225551-114225908	XLOC_005438
2	lnc-MARCKS-1	chr6:114225302-114225908	ENSG00000175967.3

No data

Variant related genes	Relation type
ENSG00000175967	TF binding region
ENSG00000175967	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188434499	chr6:114224118-114224119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564775665	chr6:114224121-114224122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551049693	chr6:114224135-114224136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201190752	chr6:114224232-114224233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113927728	chr6:114224234-114224235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559851698	chr6:114224235-114224236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560092436	chr6:114224239-114224240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527529760	chr6:114224254-114224255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397822658	chr6:114224256-114224257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574237300	chr6:114224282-114224283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191341272	chr6:114224295-114224296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532633215	chr6:114224337-114224338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534994625	chr6:114224383-114224384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567916401	chr6:114224400-114224401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377708661	chr6:114224488-114224489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118159370	chr6:114224543-114224544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73551249	chr6:114224544-114224545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371774158	chr6:114224596-114224597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151014687	chr6:114224604-114224605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6917232	chr6:114224631-114224632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566199539	chr6:114224647-114224648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571928554	chr6:114224767-114224768	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs183726421	chr6:114224778-114224779	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554675576	chr6:114224794-114224795	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573829529	chr6:114224820-114224821	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs578251619	chr6:114224910-114224911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs140869163	chr6:114224916-114224917	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs59295167	chr6:114224922-114224923	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539340709	chr6:114224937-114224938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189162821	chr6:114224968-114224969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs202024731	chr6:114225039-114225040	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs546395711	chr6:114225121-114225122	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs11754918	chr6:114225132-114225133	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182566554	chr6:114225135-114225136	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs566131195	chr6:114225161-114225162	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375471240	chr6:114225180-114225181	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544833302	chr6:114225184-114225185	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs59789448	chr6:114225186-114225187	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527412460	chr6:114225218-114225219	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11965077	chr6:114225230-114225231	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
41	rs374410019	chr6:114225232-114225233	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs58845705	chr6:114225247-114225248	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs717013	chr6:114225256-114225257	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs562915332	chr6:114225265-114225266	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573425305	chr6:114225275-114225276	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs571997840	chr6:114225292-114225293	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543773601	chr6:114225298-114225299	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532723252	chr6:114225363-114225364	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs368976509	chr6:114225420-114225421	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
50	rs548026258	chr6:114225423-114225424	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114223000-114225200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114223000-114225200	Weak transcription	HUVEC	blood vessel
3	chr6:114223200-114225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:114223400-114225000	Weak transcription	NHDF-Ad	bronchial
5	chr6:114223400-114225200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:114223400-114225200	Weak transcription	Osteobl	bone
7	chr6:114223600-114225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:114223600-114225000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:114223600-114225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:114223600-114225200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:114223800-114225000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:114223800-114225200	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:114223800-114225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:114224000-114225000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:114224000-114225000	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:114224000-114225000	Weak transcription	HepG2	liver
17	chr6:114224400-114225000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:114224600-114226200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:114224800-114225000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:114224800-114225000	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:114224800-114226000	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:114224800-114226600	Enhancers	Fetal Stomach	stomach
23	chr6:114225000-114225200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:114225000-114225200	Enhancers	Adipose Nuclei	Adipose
25	chr6:114225000-114225200	Active TSS	HepG2	liver
26	chr6:114225000-114225400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:114225000-114225400	Enhancers	Esophagus	oesophagus
28	chr6:114225000-114225400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:114225000-114225600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:114225000-114225800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:114225000-114225800	Enhancers	Fetal Muscle Trunk	muscle
32	chr6:114225000-114225800	Enhancers	Right Ventricle	heart
33	chr6:114225000-114225800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:114225000-114225800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr6:114225000-114225800	Enhancers	NH-A	brain
36	chr6:114225000-114226000	Enhancers	Ovary	ovary
37	chr6:114225000-114226000	Enhancers	NHDF-Ad	bronchial
38	chr6:114225000-114226200	Enhancers	Fetal Heart	heart
39	chr6:114225000-114226200	Enhancers	Fetal Muscle Leg	muscle
40	chr6:114225000-114226400	Enhancers	Fetal Lung	lung
41	chr6:114225000-114226600	Enhancers	Placenta	Placenta
42	chr6:114225200-114225400	Active TSS	Colon Smooth Muscle	Colon
43	chr6:114225200-114225400	Enhancers	Right Atrium	heart
44	chr6:114225200-114225400	Flanking Active TSS	HepG2	liver
45	chr6:114225200-114225600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:114225200-114225600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:114225200-114225600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:114225200-114225600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:114225200-114225600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:114225200-114225600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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