Variant report

Variant	esv2757193
Chromosome Location	chr6:143820009-143825104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:143823120-143823270	AG09309	skin:	n/a	n/a
2	CTCF	chr6:143823060-143823210	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr6:143823107-143823241	NHEK	skin:	n/a	n/a
4	CTCF	chr6:143823120-143823270	HMEC	breast:	n/a	n/a
5	CTCF	chr6:143823091-143823312	Medullo	brain:	n/a	n/a
6	CTCF	chr6:143823040-143823190	HMF	breast:	n/a	n/a
7	CTCF	chr6:143823120-143823270	AG04449	skin:	n/a	n/a
8	CTCF	chr6:143823100-143823250	AG04450	lung:	n/a	n/a
9	CTCF	chr6:143823130-143823248	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr6:143823098-143823284	LNCaP	prostate:	n/a	n/a
11	CTCF	chr6:143823120-143823270	NHLF	lung:	n/a	n/a
12	CTCF	chr6:143823080-143823230	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr6:143823132-143823239	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:143823100-143823250	BE2_C	brain:	n/a	n/a
15	CTCF	chr6:143823040-143823190	GM06990	blood:	n/a	n/a
16	CTCF	chr6:143822980-143823130	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr6:143823120-143823270	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr6:143823100-143823250	AG09319	gingival:	n/a	n/a
19	CTCF	chr6:143823100-143823250	A549	lung:	n/a	n/a
20	CTCF	chr6:143823147-143823198	GM19238	blood:	n/a	n/a
21	CTCF	chr6:143823130-143823274	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:143823128-143823218	A549	lung:	n/a	n/a
23	CTCF	chr6:143823100-143823250	HMEC	breast:	n/a	n/a
24	CTCF	chr6:143822980-143823130	HVMF	connective:	n/a	n/a
25	CTCF	chr6:143823124-143823244	GM19240	blood:	n/a	n/a
26	CTCF	chr6:143823160-143823310	HRE	kidney:	n/a	n/a
27	CTCF	chr6:143823077-143823299	IMR90	lung:	n/a	n/a
28	CTCF	chr6:143823157-143823240	K562	blood:	n/a	n/a
29	CTCF	chr6:143823100-143823250	GM12878	blood:	n/a	n/a
30	CTCF	chr6:143823091-143823348	K562	blood:	n/a	n/a
31	CTCF	chr6:143823100-143823250	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:143823000-143823150	RPTEC	kidney:	n/a	n/a
33	CTCF	chr6:143823140-143823290	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr6:143823088-143823244	HepG2	liver:	n/a	n/a
35	CTCF	chr6:143823080-143823230	AG09319	gingival:	n/a	n/a
36	CTCF	chr6:143823120-143823270	AG10803	skin:	n/a	n/a
37	CTCF	chr6:143823021-143823362	GM12878	blood:	n/a	n/a
38	CTCF	chr6:143823144-143823283	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr6:143823120-143823270	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr6:143823120-143823270	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr6:143823080-143823230	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:143823160-143823310	HCM	heart:	n/a	n/a
43	CTCF	chr6:143823152-143823226	Fibrobl	skin:	n/a	n/a
44	CTCF	chr6:143823020-143823170	HFF	foreskin:	n/a	n/a
45	CTCF	chr6:143823130-143823227	HepG2	liver:	n/a	n/a
46	CTCF	chr6:143823117-143823214	GM12892	blood:	n/a	n/a
47	CTCF	chr6:143823080-143823230	HAc	cerebellar:	n/a	n/a
48	CTCF	chr6:143823180-143823330	BE2_C	brain:	n/a	n/a
49	CTCF	chr6:143823160-143823310	HMF	breast:	n/a	n/a
50	CTCF	chr6:143823200-143823350	HRPEpiC	eye:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143818729..143821756-chr6:143830750..143834013,3	MCF-7	breast:
2	chr6:143801164..143803858-chr6:143817519..143820066,2	K562	blood:
3	chr6:143760601..143762958-chr6:143820757..143822738,2	K562	blood:
4	chr6:143810260..143812960-chr6:143821812..143824158,2	MCF-7	breast:
5	chr6:143821189..143823852-chr6:143831025..143833660,2	MCF-7	breast:
6	chr6:143824207..143826466-chr6:144327937..144329566,2	K562	blood:
7	chr6:143804689..143809307-chr6:143816988..143822898,5	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEX3-1	chr6:143824807-143825279	ENSG00000229036.3
2	lnc-PEX3-1	chr6:143825068-143825279	ENSG00000229036.1
3	lnc-PEX3-1	chr6:143824531-143824651	ENSG00000229036.3
4	lnc-PEX3-1	chr6:143824531-143824651	ENSG00000229036.1
5	lnc-PEX3-1	chr6:143825068-143825229	ENSG00000229036.3

No data

Variant related genes	Relation type
FUCA2	TF binding region
ENSG00000229036	TF binding region
ENSG00000229036	chromatin interactions
ENSG00000241847	chromatin interactions
ENSG00000118495	chromatin interactions
ENSG00000034693	chromatin interactions
ENSG00000001036	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2143137	chr6:143820009-143820010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62429085	chr6:143820024-143820025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551262783	chr6:143820028-143820029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs566299093	chr6:143820080-143820081	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs3060488	chr6:143820092-143820093	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143104052	chr6:143820095-143820096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201274809	chr6:143820097-143820098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs527496687	chr6:143820109-143820110	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547053873	chr6:143820202-143820203	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs9496645	chr6:143820207-143820208	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77936673	chr6:143820218-143820219	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs35604100	chr6:143820230-143820231	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs535837581	chr6:143820251-143820252	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs144462076	chr6:143820259-143820260	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569282706	chr6:143820290-143820291	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147821819	chr6:143820301-143820302	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs558508893	chr6:143820340-143820341	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188678461	chr6:143820362-143820363	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs540506385	chr6:143820378-143820379	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs113107825	chr6:143820379-143820380	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs573703653	chr6:143820399-143820400	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs142662494	chr6:143820464-143820465	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs565134728	chr6:143820487-143820488	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs191174560	chr6:143820488-143820489	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544866143	chr6:143820594-143820595	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150935241	chr6:143820624-143820625	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs78100283	chr6:143820662-143820663	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs183431916	chr6:143820757-143820758	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs9390095	chr6:143820779-143820780	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140740925	chr6:143820785-143820786	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs76945370	chr6:143820792-143820793	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs529328540	chr6:143820805-143820806	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536785997	chr6:143820876-143820877	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs563280556	chr6:143820919-143820920	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377122677	chr6:143820922-143820923	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs139851521	chr6:143820977-143820978	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551056626	chr6:143820979-143820980	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569248171	chr6:143820988-143820989	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs560992436	chr6:143821038-143821039	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs9496646	chr6:143821047-143821048	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144590986	chr6:143821139-143821140	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs567200374	chr6:143821141-143821142	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112841517	chr6:143821163-143821164	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs555727242	chr6:143821178-143821179	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs113162477	chr6:143821188-143821189	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs186735057	chr6:143821189-143821190	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs537514004	chr6:143821205-143821206	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs191538024	chr6:143821223-143821224	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs145112707	chr6:143821226-143821227	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs528761	chr6:143821234-143821235	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143772600-143832000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:143772800-143821200	Weak transcription	Psoas Muscle	Psoas
3	chr6:143773200-143827000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:143773400-143832000	Weak transcription	Fetal Brain Male	brain
5	chr6:143781000-143832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:143790200-143831600	Weak transcription	Esophagus	oesophagus
7	chr6:143790200-143831600	Weak transcription	Gastric	stomach
8	chr6:143795200-143827400	Weak transcription	Aorta	Aorta
9	chr6:143795800-143831800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:143797000-143826600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:143797600-143831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:143798800-143821400	Weak transcription	HMEC	breast
13	chr6:143799000-143827000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:143800800-143831000	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:143805200-143827800	Weak transcription	Fetal Heart	heart
16	chr6:143811400-143832000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:143811800-143829400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr6:143812000-143827400	Weak transcription	Pancreas	Pancrea
19	chr6:143812200-143831600	Weak transcription	Right Ventricle	heart
20	chr6:143812400-143820800	Weak transcription	Lung	lung
21	chr6:143812400-143826800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:143812400-143829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:143812400-143832200	Weak transcription	Spleen	Spleen
24	chr6:143812600-143831800	Weak transcription	NHEK	skin
25	chr6:143812600-143832000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:143813000-143826600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:143813400-143828400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:143813400-143829600	Strong transcription	Fetal Intestine Large	intestine
29	chr6:143813800-143828400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:143814200-143825600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:143814200-143828200	Strong transcription	HSMM	muscle
32	chr6:143814200-143828800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:143814200-143829600	Strong transcription	K562	blood
34	chr6:143814400-143825600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:143814400-143830200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr6:143814600-143823800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:143814600-143828200	Strong transcription	HepG2	liver
38	chr6:143814600-143828600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:143814600-143831000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:143814800-143822200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:143814800-143825400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:143814800-143825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:143814800-143827200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:143814800-143828200	Strong transcription	Left Ventricle	heart
45	chr6:143814800-143828200	Strong transcription	NHLF	lung
46	chr6:143814800-143828400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:143814800-143828400	Strong transcription	Adipose Nuclei	Adipose
48	chr6:143814800-143829000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:143814800-143829200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:143814800-143829400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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