Variant report

Variant	nsv884136
Chromosome Location	chr6:31036783-31044522
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	chr6:30881840..30883838-chr6:31042578..31044110,2	MCF-7	breast:
2	chr6:30581752..30584952-chr6:31036204..31040339,4	K562	blood:
3	chr6:30789776..30790473-chr6:31036346..31037323,4	K562	blood:
4	chr6:30881653..30882509-chr6:31036542..31037231,3	MCF-7	breast:
5	chr6:30883149..30883983-chr6:31038127..31038765,2	MCF-7	breast:
6	chr6:30710754..30713406-chr6:31035181..31039052,3	MCF-7	breast:
7	chr6:30850647..30851535-chr6:31038324..31038929,2	MCF-7	breast:
8	chr6:30581752..30584952-chr6:31036534..31040339,3	K562	blood:
9	chr6:30883157..30884656-chr6:31038088..31039166,6	MCF-7	breast:
10	chr6:30906546..30909468-chr6:31036144..31038096,2	K562	blood:
11	chr6:30796728..30798385-chr6:31036794..31038711,2	MCF-7	breast:
12	chr6:30881624..30883657-chr6:31036918..31039973,3	MCF-7	breast:
13	chr6:31026121..31026747-chr6:31038216..31039119,3	MCF-7	breast:
14	chr6:31037450..31039191-chr6:31044569..31047052,2	K562	blood:
15	chr6:30883455..30884220-chr6:31036364..31037359,3	K562	blood:
16	chr6:30882873..30883896-chr6:31038173..31038772,3	K562	blood:
17	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
18	chr6:30795970..30796922-chr6:31036758..31037281,2	K562	blood:
19	chr6:30852224..30854652-chr6:31035119..31038739,4	MCF-7	breast:
20	chr6:30845624..30847125-chr6:31037029..31038938,2	MCF-7	breast:
21	chr6:30796286..30797094-chr6:31038583..31039101,2	MCF-7	breast:
22	chr6:31027525..31029714-chr6:31040492..31042279,2	K562	blood:
23	chr6:30882000..30883400-chr6:31036317..31037327,3	K562	blood:
24	chr6:30880976..30884128-chr6:31034595..31037027,3	MCF-7	breast:

No data

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

Extended variants
information (count: 279 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2517497	chr6:31036783-31036784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548201664	chr6:31036829-31036830	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs569601089	chr6:31036854-31036855	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs564987982	chr6:31036855-31036856	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs536875093	chr6:31036863-31036864	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs558330353	chr6:31036866-31036867	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs76835143	chr6:31036867-31036868	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs372930093	chr6:31036870-31036871	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs62399063	chr6:31036878-31036879	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112237482	chr6:31036883-31036884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs554192556	chr6:31036935-31036936	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs181225283	chr6:31036979-31036980	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs377075370	chr6:31037061-31037062	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs548199571	chr6:31037078-31037079	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs186206290	chr6:31037093-31037094	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs140926507	chr6:31037094-31037095	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs62399064	chr6:31037176-31037177	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149802588	chr6:31037253-31037254	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs534835915	chr6:31037278-31037279	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs114561028	chr6:31037296-31037297	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs561450098	chr6:31037318-31037319	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs574976003	chr6:31037322-31037323	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs41315179	chr6:31037324-31037325	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs112462617	chr6:31037325-31037326	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs201022240	chr6:31037326-31037327	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs557707924	chr6:31037328-31037329	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs200046384	chr6:31037338-31037339	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs543426558	chr6:31037361-31037362	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs376489186	chr6:31037368-31037369	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs560884000	chr6:31037388-31037389	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs146807784	chr6:31037400-31037401	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs576804541	chr6:31037414-31037415	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs72270157	chr6:31037415-31037416	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs9257038	chr6:31037416-31037417	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs113348967	chr6:31037421-31037422	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs60823229	chr6:31037455-31037456	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565485551	chr6:31037474-31037475	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs540807134	chr6:31037503-31037504	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs559456967	chr6:31037519-31037520	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs200237606	chr6:31037534-31037535	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs114486441	chr6:31037562-31037563	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs563259433	chr6:31037635-31037636	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs140664321	chr6:31037716-31037717	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs552131015	chr6:31037718-31037719	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs570559454	chr6:31037723-31037724	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs182350643	chr6:31037747-31037748	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs546789783	chr6:31037751-31037752	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs115866253	chr6:31037766-31037767	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs2844641	chr6:31037794-31037795	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs113498686	chr6:31037806-31037807	Weak transcription Enhancers	Chromatin interactive region	5 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:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31026200-31038000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:31033600-31038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:31033800-31040200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:31034200-31040000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:31034400-31040200	Weak transcription	HSMMtube	muscle
7	chr6:31034800-31037000	Enhancers	Fetal Brain Male	brain
8	chr6:31035000-31040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:31036000-31036800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:31036000-31038400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:31036000-31040000	Weak transcription	HSMM	muscle
12	chr6:31036000-31041000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:31036200-31036800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr6:31036200-31036800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr6:31036200-31036800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr6:31036200-31037000	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr6:31036200-31037000	Enhancers	Fetal Kidney	kidney
18	chr6:31036200-31037000	Enhancers	Fetal Stomach	stomach
19	chr6:31036200-31037200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:31036200-31038600	Enhancers	Brain Angular Gyrus	brain
21	chr6:31036200-31039000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:31036400-31036800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:31036400-31036800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:31036400-31037000	Enhancers	NHDF-Ad	bronchial
25	chr6:31036400-31037200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:31036400-31038200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:31036400-31038200	Weak transcription	HMEC	breast
28	chr6:31036400-31038400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:31036600-31036800	Enhancers	Primary T cells from cord blood	blood
30	chr6:31036600-31037200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:31036600-31038200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:31036600-31038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:31036600-31038400	Weak transcription	NH-A	brain
34	chr6:31036600-31038400	Weak transcription	NHLF	lung
35	chr6:31036800-31037000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:31036800-31037000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:31036800-31037000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:31036800-31037000	Enhancers	Fetal Heart	heart
39	chr6:31036800-31037000	Enhancers	Right Atrium	heart
40	chr6:31036800-31037200	Enhancers	Brain Cingulate Gyrus	brain
41	chr6:31036800-31037800	Enhancers	Brain Anterior Caudate	brain
42	chr6:31036800-31038000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:31036800-31038200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:31036800-31039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:31036800-31039000	Enhancers	Brain Hippocampus Middle	brain
46	chr6:31037000-31037200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:31037000-31037200	Enhancers	Brain Substantia Nigra	brain
48	chr6:31037000-31037600	Enhancers	K562	blood
49	chr6:31037000-31038200	Weak transcription	Fetal Brain Male	brain
50	chr6:31037000-31038200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links