Variant report

Variant	esv1799813
Chromosome Location	chr6:35589070-35597703
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	chr6:35552264..35552786-chr6:35591941..35592490,2	MCF-7	breast:
2	chr6:35591300..35593869-chr6:35651927..35654783,2	K562	blood:
3	chr6:35594919..35597333-chr6:35702762..35704319,2	K562	blood:
4	chr6:35587727..35590044-chr6:35594516..35597168,2	MCF-7	breast:
5	chr6:35585795..35587499-chr6:35594579..35596192,2	K562	blood:
6	chr6:35590975..35592795-chr6:35636857..35639450,2	K562	blood:
7	chr6:35592437..35594228-chr6:35602319..35605068,2	K562	blood:
8	chr6:35590466..35592816-chr6:35654896..35656515,2	MCF-7	breast:
9	chr6:35551221..35552108-chr6:35591843..35592756,2	MCF-7	breast:
10	chr6:35581577..35583597-chr6:35594456..35596593,2	K562	blood:
11	chr6:35586617..35589215-chr6:35604056..35605998,2	MCF-7	breast:
12	chr6:35584531..35587499-chr6:35594692..35597176,2	K562	blood:
13	chr6:35579195..35580926-chr6:35590292..35592464,2	MCF-7	breast:
14	chr6:35587577..35589322-chr6:35611624..35613788,2	K562	blood:
15	chr6:35551359..35552588-chr6:35591933..35592441,3	MCF-7	breast:
16	chr6:35587727..35590044-chr6:35594516..35597168,2	MCF-7	breast:
17	chr6:35568378..35571092-chr6:35588420..35590433,2	K562	blood:

No data

Extended variants
information (count: 313 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9380524	chr6:35589070-35589071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576325539	chr6:35589110-35589111	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78033092	chr6:35589128-35589129	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567946584	chr6:35589144-35589145	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576963835	chr6:35589189-35589190	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541136696	chr6:35589265-35589266	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139325786	chr6:35589266-35589267	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182912887	chr6:35589272-35589273	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541721767	chr6:35589326-35589327	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186504472	chr6:35589327-35589328	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191134990	chr6:35589364-35589365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552198983	chr6:35589374-35589375	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570555138	chr6:35589385-35589386	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79502005	chr6:35589398-35589399	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183308356	chr6:35589415-35589416	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7749799	chr6:35589431-35589432	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566248466	chr6:35589446-35589447	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368252617	chr6:35589452-35589453	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554949711	chr6:35589457-35589458	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187730564	chr6:35589530-35589531	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192704183	chr6:35589604-35589605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115898072	chr6:35589626-35589627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72921231	chr6:35589637-35589638	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375795415	chr6:35589660-35589661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553063940	chr6:35589697-35589698	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548961094	chr6:35589707-35589708	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574275501	chr6:35589738-35589739	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145994944	chr6:35589749-35589750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563433812	chr6:35589781-35589782	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530876965	chr6:35589818-35589819	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183021597	chr6:35589912-35589913	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564027343	chr6:35589918-35589919	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188108727	chr6:35589955-35589956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528115768	chr6:35590037-35590038	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546685029	chr6:35590068-35590069	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7754668	chr6:35590092-35590093	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530212055	chr6:35590095-35590096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148754368	chr6:35590105-35590106	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142340749	chr6:35590118-35590119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75118012	chr6:35590157-35590158	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151248491	chr6:35590158-35590159	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570476057	chr6:35590251-35590252	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113805447	chr6:35590275-35590276	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536091809	chr6:35590277-35590278	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139233097	chr6:35590299-35590300	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540343625	chr6:35590309-35590310	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16879318	chr6:35590391-35590392	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541651381	chr6:35590393-35590394	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111355550	chr6:35590401-35590402	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575354468	chr6:35590436-35590437	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Esophageal adenocarcinoma	18820669	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
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35545000-35601800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:35569400-35591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:35570200-35608600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:35570800-35611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:35571000-35590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:35571000-35602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:35571200-35611800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:35574800-35607200	Weak transcription	Hela-S3	cervix
9	chr6:35575000-35611600	Strong transcription	Liver	Liver
10	chr6:35575200-35592800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:35575600-35610400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:35576400-35589600	Strong transcription	Thymus	Thymus
13	chr6:35577000-35592800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:35577400-35592800	Strong transcription	HSMM	muscle
15	chr6:35577400-35593000	Strong transcription	Fetal Thymus	thymus
16	chr6:35577400-35595200	Strong transcription	Left Ventricle	heart
17	chr6:35577600-35613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:35578600-35589600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:35578800-35592000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:35578800-35592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:35579200-35597200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:35579400-35601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:35579400-35603000	Weak transcription	HSMMtube	muscle
24	chr6:35579400-35603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:35579400-35603800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:35579600-35593000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr6:35579600-35604000	Weak transcription	Osteobl	bone
28	chr6:35579800-35592000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:35579800-35593400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr6:35580200-35602000	Weak transcription	Fetal Intestine Large	intestine
31	chr6:35583200-35608000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:35584200-35607600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:35584600-35592800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:35585000-35592200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:35585200-35589800	Strong transcription	Lung	lung
36	chr6:35585200-35592800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:35585600-35589200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:35585600-35590200	Strong transcription	NHEK	skin
39	chr6:35585600-35610800	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:35585800-35607800	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:35586400-35606200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:35586800-35603000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:35586800-35606000	Weak transcription	Primary B cells from cord blood	blood
44	chr6:35586800-35613800	Weak transcription	Fetal Stomach	stomach
45	chr6:35587000-35590600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:35587000-35594600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:35587000-35607800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:35587000-35607800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:35587200-35606400	Weak transcription	Small Intestine	intestine
50	chr6:35587800-35589200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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