Variant report

Variant	esv2753764
Chromosome Location	chr6:37963308-37978172
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	CTCF	chr6:37975320-37975470	HAc	cerebellar:	n/a	n/a
2	CTCF	chr6:37967200-37967350	HPAF	blood vessel:	n/a	n/a
3	FOXA1	chr6:37973574-37973877	T-47D	breast:	n/a	chr6:37973767-37973782
4	FOXA1	chr6:37973689-37973865	T-47D	breast:	n/a	chr6:37973767-37973782
5	FOXA1	chr6:37973555-37973869	HepG2	liver:	n/a	chr6:37973767-37973782
6	GATA3	chr6:37966082-37966198	SH-SY5Y	brain:	n/a	n/a
7	JUN	chr6:37977213-37977220	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFF	chr6:37966225-37966423	K562	blood:	n/a	chr6:37966329-37966347
9	MAFF	chr6:37966224-37966499	HepG2	liver:	n/a	chr6:37966329-37966347
10	MAFK	chr6:37966197-37966501	IMR90	lung:	n/a	chr6:37966331-37966346
11	MAFK	chr6:37966163-37966526	HepG2	liver:	n/a	chr6:37966331-37966346
12	MAFK	chr6:37966184-37966500	HepG2	liver:	n/a	chr6:37966331-37966346
13	MAFK	chr6:37969080-37969089	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:37977949-37977978	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:37968330-37968470	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:37977970-37978074	ProgFib	skin:	n/a	n/a
17	POLR2A	chr6:37977909-37977930	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:37977935-37977936	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:37971051-37971094	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:37977494-37977682	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:37970941-37971024	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:37977998-37978143	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:37975700-37975734	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:37966048-37966073	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:37973647-37973811	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr6:37976374-37976445	MCF-7	breast:	n/a	n/a
27	SETDB1	chr6:37968085-37968459	U2OS	brain:	n/a	n/a
28	STAT3	chr6:37970744-37970844	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr6:37972715-37972915	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr6:37968718-37968816	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr6:37968302-37968338	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:37973128-37973325	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:37959253..37960891-chr6:37963216..37966169,3	K562	blood:
2	chr6:37961004..37963771-chr6:37970907..37973856,2	MCF-7	breast:
3	chr6:37974723..37976308-chr6:37979935..37981504,2	MCF-7	breast:
4	chr6:37956692..37960891-chr6:37962737..37966006,6	K562	blood:
5	chr6:37961664..37964407-chr6:37965774..37967604,2	K562	blood:
6	chr6:37961664..37964407-chr6:37965774..37967604,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD9-2	chr6:37970608-37971089	NONHSAT112289

Variant related genes	Relation type
ENSG00000218521	TF binding region
ENSG00000218521	chromatin interactions

Extended variants
information (count: 552 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12661480	chr6:37963308-37963309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199874503	chr6:37963314-37963315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201178526	chr6:37963316-37963317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567078077	chr6:37963323-37963324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529951896	chr6:37963399-37963400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549524037	chr6:37963423-37963424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569518722	chr6:37963506-37963507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58357757	chr6:37963548-37963549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs397735612	chr6:37963556-37963557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35702428	chr6:37963559-37963560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549829194	chr6:37963598-37963599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112968264	chr6:37963659-37963660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13220131	chr6:37963668-37963669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372689410	chr6:37963693-37963694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558896633	chr6:37963754-37963755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566052131	chr6:37963761-37963762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534739898	chr6:37963798-37963799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555026343	chr6:37963820-37963821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568738418	chr6:37963828-37963829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570319741	chr6:37963851-37963852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76726737	chr6:37963907-37963908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60440537	chr6:37963929-37963930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557585019	chr6:37963949-37963950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577402430	chr6:37963968-37963969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545070218	chr6:37964035-37964036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558395968	chr6:37964036-37964037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116727709	chr6:37964040-37964041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72850883	chr6:37964084-37964085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs193050445	chr6:37964088-37964089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150278228	chr6:37964136-37964137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555310500	chr6:37964157-37964158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6903260	chr6:37964163-37964164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575048869	chr6:37964198-37964199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530271927	chr6:37964215-37964216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546894049	chr6:37964226-37964227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563488561	chr6:37964315-37964316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565873046	chr6:37964316-37964317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183081036	chr6:37964332-37964333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145699637	chr6:37964334-37964335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72850884	chr6:37964338-37964339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557613947	chr6:37964392-37964393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528603784	chr6:37964393-37964394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187638793	chr6:37964461-37964462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568511483	chr6:37964507-37964508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537729706	chr6:37964535-37964536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6904444	chr6:37964554-37964555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191708144	chr6:37964569-37964570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148938990	chr6:37964590-37964591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539617800	chr6:37964624-37964625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576070228	chr6:37964640-37964641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37950000-37963600	Weak transcription	Spleen	Spleen
2	chr6:37953400-37965200	Weak transcription	Esophagus	oesophagus
3	chr6:37955600-37963800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:37956200-37965400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37956200-37978800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:37956600-37967200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:37957800-37976400	Weak transcription	Aorta	Aorta
8	chr6:37959400-37975600	Weak transcription	Left Ventricle	heart
9	chr6:37960400-37964200	Weak transcription	Adipose Nuclei	Adipose
10	chr6:37960800-37982400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:37961600-37963400	Enhancers	Brain Hippocampus Middle	brain
12	chr6:37961800-37963400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:37962000-37973200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:37962200-37964000	Weak transcription	HUVEC	blood vessel
15	chr6:37962200-37975800	Weak transcription	Liver	Liver
16	chr6:37962400-37965200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:37962800-37964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:37962800-37964800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:37962800-37965000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:37962800-37965000	Weak transcription	HSMMtube	muscle
21	chr6:37962800-37965400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:37962800-37966400	Weak transcription	NHDF-Ad	bronchial
23	chr6:37963000-37964200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:37963000-37965200	Weak transcription	Psoas Muscle	Psoas
25	chr6:37963000-37968600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:37963000-37969000	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:37963000-37969000	Weak transcription	Fetal Kidney	kidney
28	chr6:37963000-37969400	Weak transcription	Osteobl	bone
29	chr6:37963000-37973400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:37963000-37973400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:37963000-37975600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:37963000-37975800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:37963000-37977600	Weak transcription	Ovary	ovary
34	chr6:37963000-37984800	Weak transcription	Right Atrium	heart
35	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:37963400-37964600	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:37963600-37963800	Enhancers	Spleen	Spleen
38	chr6:37963800-37964000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:37964000-37964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:37964000-37964200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:37964000-37964400	Enhancers	HUVEC	blood vessel
42	chr6:37964200-37964400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:37964200-37964400	Enhancers	Adipose Nuclei	Adipose
44	chr6:37964200-37964400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:37964600-37964800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:37964800-37965400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:37965000-37965400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:37965200-37965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:37965200-37965400	Enhancers	HSMMtube	muscle
50	chr6:37965200-37965600	Enhancers	Psoas Muscle	Psoas

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