Variant report

Variant	esv1794528
Chromosome Location	chr6:34267024-34308816
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:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:34304154..34306840-chr6:34357586..34359775,2	MCF-7	breast:
2	chr6:34273952..34276899-chr6:34292317..34294355,2	K562	blood:
3	chr6:34256381..34258511-chr6:34279378..34281154,2	K562	blood:
4	chr6:34264509..34267143-chr6:34295354..34298132,2	K562	blood:
5	chr6:34201303..34203546-chr6:34292849..34294793,2	K562	blood:
6	chr6:34305250..34307284-chr6:34307723..34310637,2	MCF-7	breast:
7	chr6:34203631..34205192-chr6:34290718..34292686,2	K562	blood:
8	chr6:34289970..34292350-chr6:34305042..34307455,2	MCF-7	breast:
9	chr6:34261035..34263371-chr6:34289848..34291371,2	MCF-7	breast:
10	chr6:34305250..34307284-chr6:34307723..34310637,2	MCF-7	breast:
11	chr6:34218417..34220144-chr6:34295375..34297652,2	K562	blood:
12	chr6:34260937..34262929-chr6:34283836..34285697,2	MCF-7	breast:
13	chr6:34216785..34218325-chr6:34295929..34298863,2	K562	blood:
14	chr6:34307128..34308911-chr6:34309143..34310713,2	K562	blood:
15	chr6:34303920..34306349-chr6:34307899..34311010,3	K562	blood:
16	chr6:34240075..34242677-chr6:34273875..34276752,2	K562	blood:
17	chr6:34266488..34268180-chr6:34270200..34273070,2	MCF-7	breast:
18	chr6:34251313..34254635-chr6:34272399..34275413,3	K562	blood:
19	chr6:34303920..34306349-chr6:34307899..34311010,3	K562	blood:
20	chr6:34298245..34300492-chr6:34300638..34303123,2	K562	blood:
21	chr6:34273943..34276502-chr6:34283209..34285322,3	K562	blood:
22	chr6:34295706..34297302-chr6:34301411..34303154,2	K562	blood:
23	chr6:34286471..34290477-chr6:34292697..34296631,5	K562	blood:
24	chr6:34305135..34307781-chr6:34356782..34358757,2	MCF-7	breast:
25	chr6:34266980..34269551-chr6:34289025..34290920,2	K562	blood:
26	chr6:34239719..34243509-chr6:34291067..34294837,5	K562	blood:
27	chr6:34288743..34290289-chr6:34292325..34294545,2	K562	blood:
28	chr6:34295706..34297302-chr6:34301411..34303154,2	K562	blood:
29	chr6:34299992..34302647-chr6:34315891..34318733,2	MCF-7	breast:
30	chr6:34209691..34211647-chr6:34293997..34295564,2	K562	blood:
31	chr6:34261986..34267851-chr6:34269330..34272911,9	K562	blood:
32	chr6:34285140..34288176-chr6:34300410..34302551,3	MCF-7	breast:
33	chr6:34269899..34272547-chr6:34275624..34278152,2	K562	blood:
34	chr6:34261986..34267851-chr6:34269330..34272911,9	K562	blood:
35	chr6:34209005..34211629-chr6:34285678..34287201,2	K562	blood:
36	chr6:34299261..34302272-chr6:34303453..34305944,3	K562	blood:
37	chr6:34263488..34269053-chr6:34269608..34275567,7	K562	blood:
38	chr6:34277286..34279366-chr6:34285651..34287464,2	K562	blood:
39	chr6:34284086..34287812-chr6:34358809..34361485,3	K562	blood:
40	chr6:34288743..34290289-chr6:34292325..34294545,2	K562	blood:
41	chr6:34285140..34288176-chr6:34300410..34302551,3	MCF-7	breast:
42	chr6:34295957..34297774-chr6:34297858..34299653,2	K562	blood:
43	chr6:34238995..34241541-chr6:34307534..34310949,3	K562	blood:
44	chr6:34273952..34276899-chr6:34292317..34294355,2	K562	blood:
45	chr6:34269899..34272547-chr6:34275624..34278152,2	K562	blood:
46	chr6:34211075..34213975-chr6:34293539..34295435,2	K562	blood:
47	chr6:34292790..34296171-chr6:34350622..34353853,3	K562	blood:
48	chr6:34292426..34294202-chr6:34358890..34360481,2	K562	blood:
49	chr6:34283435..34288525-chr6:34290742..34294904,6	K562	blood:
50	chr6:34292928..34295452-chr6:34306774..34308338,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137309	chromatin interactions
ENSG00000186577	chromatin interactions
ENSG00000124507	chromatin interactions
ENSG00000272325	chromatin interactions

Extended variants
information (count: 1674 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1674 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193019189	chr6:34267033-34267034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558934939	chr6:34267035-34267036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75550250	chr6:34267056-34267057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545100528	chr6:34267091-34267092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554121214	chr6:34267104-34267105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113693042	chr6:34267136-34267137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556164847	chr6:34267142-34267143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185212552	chr6:34267151-34267152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561001533	chr6:34267177-34267178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190504799	chr6:34267194-34267195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543603943	chr6:34267243-34267244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565263932	chr6:34267247-34267248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532648135	chr6:34267302-34267303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547737215	chr6:34267369-34267370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372205424	chr6:34267372-34267373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147548768	chr6:34267378-34267379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192612659	chr6:34267420-34267421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34074664	chr6:34267440-34267441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147687050	chr6:34267509-34267510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548274873	chr6:34267537-34267538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569759716	chr6:34267539-34267540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115717619	chr6:34267545-34267546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116128469	chr6:34267556-34267557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570794313	chr6:34267609-34267610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534934888	chr6:34267645-34267646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527665276	chr6:34267678-34267679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199545048	chr6:34267684-34267685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552968133	chr6:34267690-34267691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146466723	chr6:34267693-34267694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572409764	chr6:34267695-34267696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150190086	chr6:34267821-34267822	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62399898	chr6:34267837-34267838	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554688777	chr6:34267887-34267888	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576104508	chr6:34267915-34267916	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376621469	chr6:34267916-34267917	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541692738	chr6:34267941-34267942	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543640122	chr6:34268022-34268023	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565150527	chr6:34268031-34268032	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs16885998	chr6:34268107-34268108	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs541714420	chr6:34268141-34268142	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530454377	chr6:34268284-34268285	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377491702	chr6:34268295-34268296	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529734112	chr6:34268299-34268300	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369206975	chr6:34268304-34268305	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548978683	chr6:34268350-34268351	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183575228	chr6:34268353-34268354	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188312318	chr6:34268404-34268405	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577892527	chr6:34268433-34268434	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138749653	chr6:34268441-34268442	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570684250	chr6:34268450-34268451	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	22522925	CNVD

Chromatin state (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34240600-34269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:34244400-34273400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:34251000-34283200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:34253600-34271200	Weak transcription	Stomach Mucosa	stomach
5	chr6:34260200-34272800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:34261400-34269000	Weak transcription	NHDF-Ad	bronchial
7	chr6:34261400-34269200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:34261400-34269400	Weak transcription	NHLF	lung
9	chr6:34261400-34273400	Weak transcription	Fetal Kidney	kidney
10	chr6:34261400-34276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:34261600-34268600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:34261600-34269200	Weak transcription	NH-A	brain
13	chr6:34261600-34269200	Weak transcription	Osteobl	bone
14	chr6:34261600-34273400	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:34261600-34276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:34261800-34268000	Weak transcription	Placenta	Placenta
17	chr6:34261800-34269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:34261800-34269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:34261800-34269200	Weak transcription	Brain Germinal Matrix	brain
20	chr6:34261800-34269400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:34261800-34271200	Weak transcription	HUVEC	blood vessel
22	chr6:34261800-34273600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:34261800-34275200	Weak transcription	Aorta	Aorta
24	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:34262000-34267800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:34262000-34268200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:34262000-34268400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:34262000-34269000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:34262000-34269000	Weak transcription	Brain Angular Gyrus	brain
30	chr6:34262000-34269000	Weak transcription	Fetal Lung	lung
31	chr6:34262000-34269200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:34262000-34269200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:34262000-34269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:34262000-34269200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:34262000-34269200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:34262000-34269400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:34262000-34274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:34262000-34276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:34262000-34282600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:34262000-34282800	Weak transcription	Primary T cells from cord blood	blood
41	chr6:34262000-34283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:34262000-34284600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:34262000-34286600	Weak transcription	Gastric	stomach
44	chr6:34262000-34289000	Weak transcription	Hela-S3	cervix
45	chr6:34262000-34292800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:34262200-34268000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:34262200-34269200	Weak transcription	Adipose Nuclei	Adipose
48	chr6:34262200-34269200	Weak transcription	Ovary	ovary
49	chr6:34262200-34269400	Weak transcription	Liver	Liver
50	chr6:34262200-34273400	Weak transcription	Fetal Brain Female	brain

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