Variant report

Variant	esv3422350
Chromosome Location	chr6:35054024-35056822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35050342..35053093-chr6:35053123..35054813,2	K562	blood:
2	chr6:35053514..35055094-chr6:35107527..35110019,2	K562	blood:
3	chr6:34977724..34979255-chr6:35054061..35055761,2	K562	blood:
4	chr6:35052520..35054027-chr6:35226819..35228676,2	K562	blood:
5	chr6:35045958..35049879-chr6:35052642..35055370,3	K562	blood:
6	chr6:35054576..35057054-chr6:35059180..35061237,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124678	chromatin interactions
ENSG00000065029	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368410999	chr6:35054052-35054053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2820241	chr6:35054055-35054056	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2820242	chr6:35054056-35054057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557084083	chr6:35054059-35054060	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575661216	chr6:35054062-35054063	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546566520	chr6:35054066-35054067	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112598986	chr6:35054069-35054070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150043621	chr6:35054102-35054103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186338039	chr6:35054115-35054116	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200912957	chr6:35054117-35054118	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562281470	chr6:35054148-35054149	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528996737	chr6:35054154-35054155	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13216424	chr6:35054185-35054186	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs374817996	chr6:35054188-35054189	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145345174	chr6:35054215-35054216	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551305706	chr6:35054222-35054223	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566415088	chr6:35054224-35054225	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552903648	chr6:35054266-35054267	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191582248	chr6:35054277-35054278	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148310776	chr6:35054294-35054295	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527265595	chr6:35054303-35054304	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555284964	chr6:35054306-35054307	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367677321	chr6:35054309-35054310	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567411635	chr6:35054356-35054357	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148860436	chr6:35054385-35054386	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547047524	chr6:35054419-35054420	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553269367	chr6:35054420-35054421	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs367801223	chr6:35054457-35054458	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535923957	chr6:35054467-35054468	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546202640	chr6:35054492-35054493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71567479	chr6:35054530-35054531	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371631558	chr6:35054560-35054561	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558515993	chr6:35054574-35054575	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573600959	chr6:35054590-35054591	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540888116	chr6:35054595-35054596	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562155002	chr6:35054631-35054632	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574132738	chr6:35054638-35054639	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375044922	chr6:35054659-35054660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199703127	chr6:35054661-35054662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4276486	chr6:35054672-35054673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368736100	chr6:35054690-35054691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532802145	chr6:35054723-35054724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550943175	chr6:35054725-35054726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200759331	chr6:35054738-35054739	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150867713	chr6:35054745-35054746	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372946772	chr6:35054764-35054765	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549211171	chr6:35054829-35054830	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377223452	chr6:35054870-35054871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567393061	chr6:35054896-35054897	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183547354	chr6:35054897-35054898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
2	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
4	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:35021800-35055400	Weak transcription	HSMM	muscle
6	chr6:35024800-35062000	Weak transcription	A549	lung
7	chr6:35025600-35056000	Strong transcription	Liver	Liver
8	chr6:35026600-35059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:35028600-35060000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:35036200-35059200	Strong transcription	Primary T cells from cord blood	blood
11	chr6:35036800-35056200	Strong transcription	Fetal Stomach	stomach
12	chr6:35037000-35061800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:35039400-35060600	Strong transcription	Fetal Intestine Large	intestine
14	chr6:35040000-35057000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:35041800-35056800	Weak transcription	Fetal Heart	heart
16	chr6:35042200-35059200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:35044400-35058800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr6:35044600-35057600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:35044600-35058200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:35044800-35055600	Strong transcription	Aorta	Aorta
21	chr6:35044800-35056800	Strong transcription	Rectal Smooth Muscle	rectum
22	chr6:35044800-35057800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr6:35044800-35058800	Strong transcription	Gastric	stomach
24	chr6:35044800-35059000	Strong transcription	Left Ventricle	heart
25	chr6:35045000-35057000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:35045000-35057000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:35045000-35057800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:35045000-35059000	Strong transcription	Pancreas	Pancrea
29	chr6:35045200-35057000	Strong transcription	Fetal Brain Female	brain
30	chr6:35045200-35057400	Strong transcription	Ovary	ovary
31	chr6:35045200-35057800	Strong transcription	Brain Germinal Matrix	brain
32	chr6:35045200-35059400	Strong transcription	Thymus	Thymus
33	chr6:35045400-35056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:35045600-35057200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:35046200-35055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:35046400-35057800	Strong transcription	Fetal Lung	lung
37	chr6:35049200-35056800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:35049600-35058800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr6:35049600-35060200	Weak transcription	Psoas Muscle	Psoas
40	chr6:35049800-35055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:35049800-35056600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:35050000-35054200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:35050000-35055800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:35050000-35056800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:35050000-35057200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:35050000-35059800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:35050000-35063800	Weak transcription	HUVEC	blood vessel
48	chr6:35050200-35054600	Strong transcription	Right Ventricle	heart
49	chr6:35050200-35056000	Strong transcription	Esophagus	oesophagus
50	chr6:35050200-35056600	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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