Variant report

Variant	nsv884135
Chromosome Location	chr6:31034264-31044522
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30852224..30854652-chr6:31035119..31038739,4	MCF-7	breast:
2	chr6:30882873..30883896-chr6:31038173..31038772,3	K562	blood:
3	chr6:30795970..30796922-chr6:31036758..31037281,2	K562	blood:
4	chr6:30850647..30851535-chr6:31038324..31038929,2	MCF-7	breast:
5	chr6:30883149..30883983-chr6:31038127..31038765,2	MCF-7	breast:
6	chr6:30881624..30883657-chr6:31036918..31039973,3	MCF-7	breast:
7	chr6:31037450..31039191-chr6:31044569..31047052,2	K562	blood:
8	chr6:30906546..30909468-chr6:31036144..31038096,2	K562	blood:
9	chr6:30581752..30584952-chr6:31036534..31040339,3	K562	blood:
10	chr6:31026121..31026747-chr6:31038216..31039119,3	MCF-7	breast:
11	chr6:30883455..30884220-chr6:31036364..31037359,3	K562	blood:
12	chr6:30581752..30584952-chr6:31036204..31040339,4	K562	blood:
13	chr6:30880976..30884128-chr6:31034595..31037027,3	MCF-7	breast:
14	chr6:30796286..30797094-chr6:31038583..31039101,2	MCF-7	breast:
15	chr6:31027525..31029714-chr6:31040492..31042279,2	K562	blood:
16	chr6:30882000..30883400-chr6:31036317..31037327,3	K562	blood:
17	chr6:30796728..30798385-chr6:31036794..31038711,2	MCF-7	breast:
18	chr6:30881840..30883838-chr6:31042578..31044110,2	MCF-7	breast:
19	chr6:30883157..30884656-chr6:31038088..31039166,6	MCF-7	breast:
20	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
21	chr6:30789776..30790473-chr6:31036346..31037323,4	K562	blood:
22	chr6:30710754..30713406-chr6:31035181..31039052,3	MCF-7	breast:
23	chr6:30845624..30847125-chr6:31037029..31038938,2	MCF-7	breast:
24	chr6:30881653..30882509-chr6:31036542..31037231,3	MCF-7	breast:

No data

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

Extended variants
information (count: 430 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62399061	chr6:31034265-31034266	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369223033	chr6:31034285-31034286	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75056122	chr6:31034331-31034332	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180907211	chr6:31034351-31034352	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201600756	chr6:31034373-31034374	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367560142	chr6:31034380-31034381	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200690275	chr6:31034383-31034384	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200152584	chr6:31034384-31034385	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186046252	chr6:31034385-31034386	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9262657	chr6:31034426-31034427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9262658	chr6:31034427-31034428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370208415	chr6:31034429-31034430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535127949	chr6:31034456-31034457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7754869	chr6:31034525-31034526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371073455	chr6:31034536-31034537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9262659	chr6:31034573-31034574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557520758	chr6:31034578-31034579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9262660	chr6:31034589-31034590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9262661	chr6:31034592-31034593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs9262662	chr6:31034593-31034594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3094089	chr6:31034595-31034596	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562900250	chr6:31034596-31034597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533464437	chr6:31034629-31034630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551948009	chr6:31034630-31034631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182299258	chr6:31034648-31034649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527884756	chr6:31034662-31034663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7755184	chr6:31034688-31034689	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567881016	chr6:31034689-31034690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538566124	chr6:31034691-31034692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556534332	chr6:31034692-31034693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568551454	chr6:31034713-31034714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186917765	chr6:31034723-31034724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190566531	chr6:31034734-31034735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375848238	chr6:31034769-31034770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112973572	chr6:31034770-31034771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373868045	chr6:31034771-31034772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573834046	chr6:31034816-31034817	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201919132	chr6:31034826-31034827	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146388906	chr6:31034840-31034841	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533377111	chr6:31034862-31034863	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545472517	chr6:31034869-31034870	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139820499	chr6:31034874-31034875	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527854091	chr6:31034875-31034876	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549296434	chr6:31034881-31034882	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9262667	chr6:31034896-31034897	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542441567	chr6:31034900-31034901	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144496610	chr6:31034903-31034904	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550071801	chr6:31034918-31034919	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148418023	chr6:31034920-31034921	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539066392	chr6:31034948-31034949	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 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:322 , 50 per page) page: 1 2 3 4 5 6 7

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	chr6:31032800-31034400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:31033600-31034400	Enhancers	HSMMtube	muscle
8	chr6:31033600-31038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:31033800-31036200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:31033800-31040200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:31034000-31034800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:31034000-31035400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:31034000-31035600	Weak transcription	Brain Anterior Caudate	brain
14	chr6:31034000-31036200	Weak transcription	Fetal Kidney	kidney
15	chr6:31034200-31034400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:31034200-31034400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:31034200-31034800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:31034200-31036200	Weak transcription	Brain Substantia Nigra	brain
19	chr6:31034200-31040000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:31034400-31036000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:31034400-31036000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:31034400-31040200	Weak transcription	HSMMtube	muscle
23	chr6:31034800-31035000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:31034800-31036200	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:31034800-31036200	Active TSS	Brain Hippocampus Middle	brain
26	chr6:31034800-31037000	Enhancers	Fetal Brain Male	brain
27	chr6:31035000-31040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:31035400-31036000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:31035600-31036200	Active TSS	Brain Anterior Caudate	brain
30	chr6:31035800-31036000	Enhancers	HSMM	muscle
31	chr6:31035800-31036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:31036000-31036200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:31036000-31036200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr6:31036000-31036800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:31036000-31038400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:31036000-31040000	Weak transcription	HSMM	muscle
37	chr6:31036000-31041000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:31036200-31036400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:31036200-31036400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:31036200-31036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:31036200-31036400	Enhancers	HMEC	breast
42	chr6:31036200-31036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:31036200-31036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:31036200-31036600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:31036200-31036600	Active TSS	Fetal Brain Female	brain
46	chr6:31036200-31036600	Enhancers	NHLF	lung
47	chr6:31036200-31036800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr6:31036200-31036800	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr6:31036200-31036800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr6:31036200-31037000	Flanking Active TSS	Brain Substantia Nigra	brain

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