Variant report

Variant	nsv1032899
Chromosome Location	chr6:20170426-20197881
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:20168910..20174410-chr6:20402241..20406110,6	K562	blood:
2	chr6:20195556..20197935-chr6:20198781..20201333,3	K562	blood:
3	chr6:20172910..20175572-chr6:20404331..20406110,2	K562	blood:
4	chr6:20191179..20194543-chr6:20403421..20406919,3	K562	blood:
5	chr6:20182072..20183869-chr6:20199499..20201801,2	MCF-7	breast:
6	chr6:20187779..20190051-chr6:20192227..20194447,3	K562	blood:
7	chr6:20183379..20185644-chr6:20202802..20204808,2	K562	blood:
8	chr6:20180620..20182528-chr6:20211714..20213883,2	MCF-7	breast:
9	chr6:20180367..20182417-chr6:20185255..20186876,2	K562	blood:
10	chr6:20182528..20185367-chr6:20211623..20214381,4	MCF-7	breast:
11	chr6:20169254..20171041-chr6:20174729..20177688,2	K562	blood:
12	chr6:20182772..20184848-chr6:20210896..20212586,2	K562	blood:
13	chr6:20180367..20182417-chr6:20185255..20186876,2	K562	blood:
14	chr6:20180103..20182906-chr6:20201581..20203746,2	K562	blood:
15	chr6:20193176..20194693-chr6:20195772..20197789,2	K562	blood:
16	chr6:20193176..20194693-chr6:20195772..20197789,2	K562	blood:
17	chr6:20187779..20190051-chr6:20192227..20194447,3	K562	blood:
18	chr6:20183085..20183879-chr6:20210423..20210990,2	MCF-7	breast:
19	chr6:20169254..20171041-chr6:20174729..20177688,2	K562	blood:
20	chr6:20183095..20185161-chr6:20211169..20213539,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112242	chromatin interactions
ENSG00000172197	chromatin interactions
ENSG00000227803	chromatin interactions

Extended variants
information (count: 1128 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576385729	chr6:20170432-20170433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186294902	chr6:20170464-20170465	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113794980	chr6:20170537-20170538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149774767	chr6:20170579-20170580	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369001566	chr6:20170580-20170581	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548223314	chr6:20170646-20170647	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567199858	chr6:20170650-20170651	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144728033	chr6:20170682-20170683	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114933672	chr6:20170697-20170698	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571439411	chr6:20170714-20170715	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538306606	chr6:20170826-20170827	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557026778	chr6:20170833-20170834	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190854307	chr6:20170862-20170863	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139650711	chr6:20170946-20170947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112184013	chr6:20170971-20170972	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181692079	chr6:20170976-20170977	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540939502	chr6:20170988-20170989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185778252	chr6:20171003-20171004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116334143	chr6:20171007-20171008	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191313473	chr6:20171023-20171024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562633597	chr6:20171033-20171034	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144086922	chr6:20171045-20171046	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541805991	chr6:20171055-20171056	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9465643	chr6:20171056-20171057	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528344294	chr6:20171069-20171070	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs36129397	chr6:20171124-20171125	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373423749	chr6:20171158-20171159	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536409360	chr6:20171159-20171160	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546873195	chr6:20171169-20171170	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112361855	chr6:20171176-20171177	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571312265	chr6:20171266-20171267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9465644	chr6:20171267-20171268	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs76927130	chr6:20171268-20171269	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568953228	chr6:20171296-20171297	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536389233	chr6:20171350-20171351	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554573581	chr6:20171357-20171358	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183320298	chr6:20171394-20171395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs17565285	chr6:20171421-20171422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546748689	chr6:20171433-20171434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146497693	chr6:20171487-20171488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577509478	chr6:20171497-20171498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544769279	chr6:20171499-20171500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556373493	chr6:20171536-20171537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574557979	chr6:20171541-20171542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139927959	chr6:20171572-20171573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376496199	chr6:20171613-20171614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34821586	chr6:20171614-20171615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556824684	chr6:20171619-20171620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553895060	chr6:20171628-20171629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs56041777	chr6:20171634-20171635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20139400-20173400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:20139600-20201200	Weak transcription	Fetal Lung	lung
3	chr6:20151600-20173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:20152000-20173800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:20152200-20173200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:20152200-20173800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:20152200-20183200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:20152400-20173000	Weak transcription	Dnd41	blood
9	chr6:20152400-20173800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:20153000-20181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:20154400-20173800	Weak transcription	Fetal Intestine Large	intestine
12	chr6:20155600-20174200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:20157400-20171400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:20157600-20174400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:20161400-20179400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:20162000-20180600	Weak transcription	Pancreas	Pancrea
17	chr6:20162800-20193000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:20163800-20183200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:20166800-20170800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:20167000-20173000	Weak transcription	GM12878-XiMat	blood
21	chr6:20167200-20172400	Weak transcription	Fetal Intestine Small	intestine
22	chr6:20167200-20173800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:20167200-20173800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:20167200-20182800	Weak transcription	Fetal Stomach	stomach
25	chr6:20168400-20174200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:20168600-20171000	Enhancers	Right Atrium	heart
27	chr6:20168800-20171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:20169200-20170600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:20169200-20171000	Enhancers	K562	blood
30	chr6:20169200-20171400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:20169200-20180400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:20169200-20186600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:20169400-20170600	Enhancers	Colon Smooth Muscle	Colon
34	chr6:20169400-20170800	Enhancers	Small Intestine	intestine
35	chr6:20169400-20171400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:20169600-20170600	Enhancers	Ovary	ovary
37	chr6:20169600-20176200	Weak transcription	Stomach Mucosa	stomach
38	chr6:20169800-20170800	Weak transcription	Primary T cells from cord blood	blood
39	chr6:20169800-20174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:20170000-20170600	Enhancers	Esophagus	oesophagus
41	chr6:20170000-20171400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:20170000-20174200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:20170200-20170600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:20170200-20170600	Enhancers	Aorta	Aorta
45	chr6:20170200-20170600	Enhancers	Left Ventricle	heart
46	chr6:20170200-20170600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:20170200-20170600	Enhancers	Spleen	Spleen
48	chr6:20170200-20171000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:20170200-20171000	Enhancers	Gastric	stomach
50	chr6:20170200-20171000	Enhancers	Lung	lung

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