Variant report

Variant	esv3361659
Chromosome Location	chr6:36417875-36418257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36410473..36414235-chr6:36416429..36423107,7	MCF-7	breast:
2	chr6:36410141..36412394-chr6:36417085..36418973,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179165	chromatin interactions
ENSG00000112078	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377544213	chr6:36417885-36417886	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573042519	chr6:36417890-36417891	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376028029	chr6:36417891-36417892	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9296183	chr6:36417920-36417921	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs576681021	chr6:36417941-36417942	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555005352	chr6:36417987-36417988	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs149432053	chr6:36418065-36418066	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192947426	chr6:36418071-36418072	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185142632	chr6:36418081-36418082	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190523257	chr6:36418085-36418086	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550151391	chr6:36418086-36418087	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546503997	chr6:36418100-36418101	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541702707	chr6:36418124-36418125	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182293082	chr6:36418128-36418129	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143804544	chr6:36418147-36418148	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546885972	chr6:36418188-36418189	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9462185	chr6:36418237-36418238	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Lung cancer	19153074	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36411600-36439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:36411600-36476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:36411800-36439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:36412200-36449200	Weak transcription	Esophagus	oesophagus
5	chr6:36412400-36437800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:36412400-36438400	Weak transcription	Lung	lung
7	chr6:36412600-36418800	Weak transcription	Pancreas	Pancrea
8	chr6:36412600-36420200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:36412600-36422800	Weak transcription	Left Ventricle	heart
10	chr6:36412600-36427200	Weak transcription	Fetal Kidney	kidney
11	chr6:36412600-36429600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:36412600-36430600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:36412600-36430800	Weak transcription	Small Intestine	intestine
14	chr6:36412600-36438600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:36412600-36439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:36412600-36449000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:36412800-36418000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:36412800-36422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:36412800-36430800	Weak transcription	Brain Substantia Nigra	brain
20	chr6:36412800-36430800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:36412800-36443400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:36412800-36447000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:36412800-36448600	Weak transcription	HMEC	breast
24	chr6:36413000-36423000	Weak transcription	Psoas Muscle	Psoas
25	chr6:36413000-36423200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:36413400-36419200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:36413400-36419400	Weak transcription	Fetal Intestine Large	intestine
28	chr6:36413400-36420200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:36413400-36421400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:36413400-36427000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:36413400-36427400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:36413400-36429600	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:36413400-36431200	Weak transcription	NHEK	skin
34	chr6:36413400-36431400	Weak transcription	A549	lung
35	chr6:36413400-36437800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr6:36413400-36439200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:36413600-36419200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:36413600-36419400	Weak transcription	HepG2	liver
39	chr6:36413600-36423000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:36413600-36427200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:36413600-36428400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:36413600-36429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:36413600-36430800	Weak transcription	NHDF-Ad	bronchial
44	chr6:36413600-36437800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:36413800-36423400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:36413800-36423400	Weak transcription	NH-A	brain
47	chr6:36413800-36427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:36413800-36429200	Weak transcription	HUVEC	blood vessel
49	chr6:36413800-36429400	Weak transcription	Fetal Heart	heart
50	chr6:36413800-36436800	Weak transcription	Fetal Lung	lung

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