Variant report

Variant	esv3418321
Chromosome Location	chr6:31034773-31037171
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30852224..30854652-chr6:31035119..31038739,4	MCF-7	breast:
2	chr6:30880976..30884128-chr6:31034595..31037027,3	MCF-7	breast:
3	chr6:30882000..30883400-chr6:31036317..31037327,3	K562	blood:
4	chr6:30881624..30883657-chr6:31036918..31039973,3	MCF-7	breast:
5	chr6:30581752..30584952-chr6:31036534..31040339,3	K562	blood:
6	chr6:30795970..30796922-chr6:31036758..31037281,2	K562	blood:
7	chr6:30789776..30790473-chr6:31036346..31037323,4	K562	blood:
8	chr6:30710754..30713406-chr6:31035181..31039052,3	MCF-7	breast:
9	chr6:30845624..30847125-chr6:31037029..31038938,2	MCF-7	breast:
10	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
11	chr6:30881653..30882509-chr6:31036542..31037231,3	MCF-7	breast:
12	chr6:30883455..30884220-chr6:31036364..31037359,3	K562	blood:
13	chr6:30906546..30909468-chr6:31036144..31038096,2	K562	blood:
14	chr6:30796728..30798385-chr6:31036794..31038711,2	MCF-7	breast:
15	chr6:30581752..30584952-chr6:31036204..31040339,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222894	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000168631	chromatin interactions
ENSG00000137411	chromatin interactions
ENSG00000137331	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573834046	chr6:31034816-31034817	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201919132	chr6:31034826-31034827	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146388906	chr6:31034840-31034841	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533377111	chr6:31034862-31034863	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545472517	chr6:31034869-31034870	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139820499	chr6:31034874-31034875	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527854091	chr6:31034875-31034876	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549296434	chr6:31034881-31034882	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9262667	chr6:31034896-31034897	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542441567	chr6:31034900-31034901	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144496610	chr6:31034903-31034904	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550071801	chr6:31034918-31034919	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148418023	chr6:31034920-31034921	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539066392	chr6:31034948-31034949	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374108792	chr6:31034974-31034975	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9262669	chr6:31034986-31034987	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9262670	chr6:31034990-31034991	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555270607	chr6:31034999-31035000	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538472562	chr6:31035011-31035012	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75755128	chr6:31035012-31035013	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538100305	chr6:31035024-31035025	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144556185	chr6:31035033-31035034	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147841910	chr6:31035038-31035039	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567021135	chr6:31035045-31035046	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141568085	chr6:31035054-31035055	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556503743	chr6:31035067-31035068	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578051073	chr6:31035073-31035074	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549292065	chr6:31035084-31035085	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545433877	chr6:31035088-31035089	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182787809	chr6:31035112-31035113	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185490114	chr6:31035118-31035119	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543147036	chr6:31035120-31035121	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561283699	chr6:31035121-31035122	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs9262676	chr6:31035122-31035123	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550033097	chr6:31035152-31035153	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565249853	chr6:31035156-31035157	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs3132567	chr6:31035191-31035192	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs9501045	chr6:31035198-31035199	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566510898	chr6:31035200-31035201	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538603979	chr6:31035210-31035211	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189954259	chr6:31035265-31035266	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs143277513	chr6:31035274-31035275	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs141759545	chr6:31035290-31035291	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
44	rs556463073	chr6:31035313-31035314	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs577987658	chr6:31035314-31035315	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs138979990	chr6:31035315-31035316	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576143956	chr6:31035330-31035331	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs140645738	chr6:31035334-31035335	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572412042	chr6:31035337-31035338	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs9262688	chr6:31035343-31035344	Weak transcription Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	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
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31026000-31034800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:31026200-31036200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:31026200-31038000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:31028200-31036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:31033600-31038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:31033800-31036200	Weak transcription	Brain Angular Gyrus	brain
8	chr6:31033800-31040200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:31034000-31034800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:31034000-31035400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:31034000-31035600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:31034000-31036200	Weak transcription	Fetal Kidney	kidney
13	chr6:31034200-31034800	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:31034200-31036200	Weak transcription	Brain Substantia Nigra	brain
15	chr6:31034200-31040000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:31034400-31036000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:31034400-31036000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:31034400-31040200	Weak transcription	HSMMtube	muscle
19	chr6:31034800-31035000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:31034800-31036200	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:31034800-31036200	Active TSS	Brain Hippocampus Middle	brain
22	chr6:31034800-31037000	Enhancers	Fetal Brain Male	brain
23	chr6:31035000-31040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:31035400-31036000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:31035600-31036200	Active TSS	Brain Anterior Caudate	brain
26	chr6:31035800-31036000	Enhancers	HSMM	muscle
27	chr6:31035800-31036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:31036000-31036200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:31036000-31036200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:31036000-31036800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:31036000-31038400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:31036000-31040000	Weak transcription	HSMM	muscle
33	chr6:31036000-31041000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:31036200-31036400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:31036200-31036400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:31036200-31036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:31036200-31036400	Enhancers	HMEC	breast
38	chr6:31036200-31036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:31036200-31036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:31036200-31036600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:31036200-31036600	Active TSS	Fetal Brain Female	brain
42	chr6:31036200-31036600	Enhancers	NHLF	lung
43	chr6:31036200-31036800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr6:31036200-31036800	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr6:31036200-31036800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr6:31036200-31037000	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr6:31036200-31037000	Enhancers	Fetal Kidney	kidney
48	chr6:31036200-31037000	Enhancers	Fetal Stomach	stomach
49	chr6:31036200-31037200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:31036200-31038600	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links