Variant report

Variant	esv2761037
Chromosome Location	chr6:37930659-37966762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37954058..37955830-chr6:37961204..37963273,2	K562	blood:
2	chr6:37961664..37964407-chr6:37965774..37967604,2	K562	blood:
3	chr6:37948324..37950868-chr6:37959290..37962178,2	MCF-7	breast:
4	chr6:37954058..37955830-chr6:37961204..37963273,2	K562	blood:
5	chr6:37961664..37964407-chr6:37965774..37967604,2	K562	blood:
6	chr6:37956692..37960891-chr6:37962737..37966006,6	K562	blood:
7	chr6:37919246..37922240-chr6:37953708..37956298,2	K562	blood:
8	chr6:37922083..37924500-chr6:37934489..37937047,2	K562	blood:
9	chr6:37959253..37960891-chr6:37963216..37966169,3	K562	blood:
10	chr6:37927855..37929395-chr6:37932120..37934567,2	MCF-7	breast:
11	chr6:37948324..37950868-chr6:37959290..37962178,2	MCF-7	breast:
12	chr6:37923129..37926098-chr6:37932741..37935067,3	MCF-7	breast:
13	chr6:37873063..37875947-chr6:37943285..37945175,2	K562	blood:
14	chr6:37956692..37960891-chr6:37962737..37966006,6	K562	blood:
15	chr6:37924674..37926815-chr6:37929494..37931459,2	MCF-7	breast:
16	chr6:37959253..37960891-chr6:37963216..37966169,3	K562	blood:
17	chr6:37961004..37963771-chr6:37970907..37973856,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000218521	chromatin interactions

Extended variants
information (count: 1365 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1365 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574573662	chr6:37930663-37930664	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543256730	chr6:37930677-37930678	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369414407	chr6:37930748-37930749	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114081923	chr6:37930795-37930796	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189677134	chr6:37930800-37930801	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532501565	chr6:37930872-37930873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115180948	chr6:37930883-37930884	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114645217	chr6:37930892-37930893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373905854	chr6:37930893-37930894	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144991734	chr6:37930897-37930898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568705201	chr6:37930898-37930899	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75571965	chr6:37930903-37930904	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551230377	chr6:37930904-37930905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115778344	chr6:37930928-37930929	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143395287	chr6:37930951-37930952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558699510	chr6:37930961-37930962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565627794	chr6:37930964-37930965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570091681	chr6:37931085-37931086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573339825	chr6:37931107-37931108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534324415	chr6:37931116-37931117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6917736	chr6:37931117-37931118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs375944322	chr6:37931122-37931123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76802906	chr6:37931125-37931126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556712923	chr6:37931160-37931161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576642608	chr6:37931168-37931169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180741996	chr6:37931184-37931185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577147923	chr6:37931190-37931191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559596835	chr6:37931238-37931239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528484777	chr6:37931240-37931241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6917668	chr6:37931259-37931260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562389297	chr6:37931272-37931273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530976679	chr6:37931309-37931310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531259857	chr6:37931363-37931364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74536857	chr6:37931378-37931379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551318226	chr6:37931416-37931417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571020414	chr6:37931460-37931461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386700280	chr6:37931493-37931494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74895147	chr6:37931494-37931495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565680071	chr6:37931512-37931513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35465740	chr6:37931518-37931519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs34634043	chr6:37931536-37931537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568072206	chr6:37931548-37931549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140618794	chr6:37931560-37931561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144748898	chr6:37931579-37931580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528456848	chr6:37931597-37931598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17648019	chr6:37931639-37931640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553421193	chr6:37931689-37931690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545437549	chr6:37931694-37931695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185255684	chr6:37931711-37931712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542184741	chr6:37931714-37931715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
2	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:37911000-37933200	Weak transcription	NHEK	skin
4	chr6:37911600-37935400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:37911600-37936200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:37920000-37933600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:37921000-37933000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:37922200-37933400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:37922600-37939000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:37922800-37938600	Weak transcription	Fetal Lung	lung
11	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:37923000-37939000	Weak transcription	Ovary	ovary
14	chr6:37923400-37931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:37923600-37938800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:37923600-37942200	Weak transcription	Aorta	Aorta
17	chr6:37923600-37947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:37923800-37934200	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:37924400-37932400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:37924600-37941600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:37925000-37934600	Weak transcription	A549	lung
22	chr6:37925200-37933200	Weak transcription	Osteobl	bone
23	chr6:37925200-37938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:37925400-37933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:37925400-37939400	Weak transcription	Adipose Nuclei	Adipose
26	chr6:37925600-37934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:37925600-37936400	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:37925800-37930800	Weak transcription	Liver	Liver
29	chr6:37926000-37936200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:37926400-37933400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:37927000-37933000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:37927000-37933600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:37927000-37937600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:37927000-37942400	Weak transcription	Psoas Muscle	Psoas
36	chr6:37927200-37933400	Weak transcription	HSMM	muscle
37	chr6:37927200-37933800	Weak transcription	Small Intestine	intestine
38	chr6:37927200-37942400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:37927600-37930800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:37928000-37934400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:37928000-37935800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:37928400-37933200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:37928400-37933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:37928600-37931000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:37928600-37932200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:37928800-37933400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:37929000-37931000	Enhancers	Primary T cells from cord blood	blood
48	chr6:37929200-37931000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:37929400-37932000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:37929400-37933200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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