Variant report

Variant	esv3472486
Chromosome Location	chr6:37849274-37853972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:
2	chr6:37841197..37843157-chr6:37847837..37849901,2	K562	blood:
3	chr6:37841525..37843246-chr6:37846742..37850050,4	MCF-7	breast:
4	chr6:37850219..37851991-chr6:37857089..37858894,2	MCF-7	breast:
5	chr6:37835497..37837699-chr6:37850167..37852091,2	MCF-7	breast:
6	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:
7	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181824792	chr6:37849325-37849326	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111838561	chr6:37849373-37849374	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569335440	chr6:37849382-37849383	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551931532	chr6:37849420-37849421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145822234	chr6:37849428-37849429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551377036	chr6:37849435-37849436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571341438	chr6:37849471-37849472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534196973	chr6:37849472-37849473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56159928	chr6:37849533-37849534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148769741	chr6:37849562-37849563	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534238246	chr6:37849569-37849570	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368497490	chr6:37849578-37849579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536861576	chr6:37849598-37849599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555125133	chr6:37849609-37849610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113626194	chr6:37849628-37849629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552821526	chr6:37849637-37849638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72849384	chr6:37849682-37849683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144484703	chr6:37849697-37849698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80066706	chr6:37849715-37849716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146646529	chr6:37849749-37849750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549161356	chr6:37849765-37849766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55679841	chr6:37849782-37849783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113080085	chr6:37849804-37849805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556352632	chr6:37849838-37849839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529031516	chr6:37849851-37849852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58333612	chr6:37849874-37849875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562806277	chr6:37849906-37849907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186372331	chr6:37849924-37849925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141212246	chr6:37849972-37849973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571302357	chr6:37849985-37849986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543890362	chr6:37850020-37850021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190487034	chr6:37850043-37850044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547731264	chr6:37850048-37850049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567954262	chr6:37850074-37850075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536419969	chr6:37850075-37850076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556734195	chr6:37850136-37850137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570299944	chr6:37850251-37850252	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145027192	chr6:37850271-37850272	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559491847	chr6:37850307-37850308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375712820	chr6:37850340-37850341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534604555	chr6:37850384-37850385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540244053	chr6:37850390-37850391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553753002	chr6:37850429-37850430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573893507	chr6:37850433-37850434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542589497	chr6:37850570-37850571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs183026346	chr6:37850641-37850642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531446527	chr6:37850676-37850677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186186238	chr6:37850782-37850783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565046669	chr6:37850819-37850820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146803607	chr6:37850832-37850833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37820000-37850200	Weak transcription	Fetal Kidney	kidney
2	chr6:37836400-37849400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:37836400-37849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:37837200-37856000	Weak transcription	NHEK	skin
6	chr6:37840200-37855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:37840400-37850200	Weak transcription	HMEC	breast
8	chr6:37840400-37860000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:37840600-37861800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:37841200-37852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
12	chr6:37841800-37850400	Weak transcription	Fetal Intestine Small	intestine
13	chr6:37845200-37850000	Weak transcription	Stomach Mucosa	stomach
14	chr6:37845400-37851600	Weak transcription	Fetal Heart	heart
15	chr6:37845600-37849400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:37845800-37849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:37845800-37849800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:37846000-37850200	Weak transcription	Fetal Stomach	stomach
19	chr6:37846000-37857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
21	chr6:37846200-37850000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:37846400-37849400	Weak transcription	Osteobl	bone
23	chr6:37846400-37849800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:37846400-37849800	Weak transcription	Aorta	Aorta
25	chr6:37846400-37849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:37846400-37849800	Weak transcription	HSMM	muscle
27	chr6:37846400-37850000	Weak transcription	Adipose Nuclei	Adipose
28	chr6:37846400-37850000	Weak transcription	Brain Angular Gyrus	brain
29	chr6:37846400-37850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:37846400-37850000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:37846400-37850200	Weak transcription	Esophagus	oesophagus
32	chr6:37846400-37850600	Weak transcription	Ovary	ovary
33	chr6:37846400-37857000	Weak transcription	Right Atrium	heart
34	chr6:37846400-37859600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:37846600-37849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:37846600-37849800	Weak transcription	NHDF-Ad	bronchial
37	chr6:37846600-37850400	Weak transcription	Psoas Muscle	Psoas
38	chr6:37846600-37856800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:37846800-37849800	Weak transcription	Pancreas	Pancrea
40	chr6:37846800-37850000	Weak transcription	Left Ventricle	heart
41	chr6:37846800-37850800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:37846800-37851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:37846800-37857000	Weak transcription	Right Ventricle	heart
44	chr6:37847000-37849800	Weak transcription	NHLF	lung
45	chr6:37847200-37849800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:37847200-37850200	Enhancers	GM12878-XiMat	blood
47	chr6:37847600-37850200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:37848000-37850200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:37848000-37850200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:37848200-37849400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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