Variant report

Variant	nsv978607
Chromosome Location	chr18:12449630-12451710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:12449829-12449883	Lung_OC	lung:	n/a	n/a
2	CTCF	chr18:12451157-12451298	K562	blood:	n/a	n/a
3	MAX	chr18:12451505-12451789	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr18:12451436-12451767	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr18:12451610-12451615	MCF-7	breast:	n/a	n/a
6	POLR2A	chr18:12451303-12451307	K562	blood:	n/a	n/a
7	POLR2A	chr18:12451543-12451681	MCF-7	breast:	n/a	n/a
8	POLR2A	chr18:12449617-12449660	MCF-7	breast:	n/a	n/a
9	POLR2A	chr18:12451587-12451633	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12448427..12450836-chr18:12453121..12454748,2	K562	blood:
2	chr18:12431522..12433489-chr18:12448330..12450426,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267515	TF binding region
ENSG00000256786	chromatin interactions
ENSG00000267108	chromatin interactions
ENSG00000134278	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140445247	chr18:12449632-12449633	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs369820393	chr18:12449633-12449634	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs530309556	chr18:12449647-12449648	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs371469566	chr18:12449652-12449653	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs374653540	chr18:12449676-12449677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs372747655	chr18:12449688-12449689	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376041494	chr18:12449696-12449697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs577239034	chr18:12449699-12449700	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201864753	chr18:12449725-12449726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373605651	chr18:12449742-12449743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs61750780	chr18:12449750-12449751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574553529	chr18:12449810-12449811	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs201168955	chr18:12449815-12449816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370670115	chr18:12449862-12449863	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561269456	chr18:12449867-12449868	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs150234249	chr18:12449880-12449881	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs531826049	chr18:12449889-12449890	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs472968	chr18:12449909-12449910	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs377068863	chr18:12449925-12449926	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200491799	chr18:12449936-12449937	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543448401	chr18:12449938-12449939	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs564917868	chr18:12449968-12449969	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs35442495	chr18:12449985-12449986	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs397859007	chr18:12449986-12449987	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567150856	chr18:12449998-12449999	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs532345474	chr18:12450026-12450027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs35847007	chr18:12450034-12450035	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs397858095	chr18:12450040-12450041	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs180845685	chr18:12450047-12450048	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs566322546	chr18:12450069-12450070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs185450206	chr18:12450101-12450102	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs111972012	chr18:12450112-12450113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs571277339	chr18:12450116-12450117	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs191340317	chr18:12450152-12450153	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs569683909	chr18:12450174-12450175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552289494	chr18:12450192-12450193	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs75446304	chr18:12450208-12450209	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs57438729	chr18:12450209-12450210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs78384364	chr18:12450210-12450211	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538681779	chr18:12450261-12450262	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537120309	chr18:12450274-12450275	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558656715	chr18:12450282-12450283	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs570477076	chr18:12450345-12450346	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs534556872	chr18:12450346-12450347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs552992929	chr18:12450395-12450396	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574670040	chr18:12450398-12450399	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs541701566	chr18:12450408-12450409	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs80122072	chr18:12450412-12450413	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556888236	chr18:12450430-12450431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181182060	chr18:12450435-12450436	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
3	chr18:12433200-12450200	Weak transcription	Thymus	Thymus
4	chr18:12433200-12464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:12433400-12458600	Weak transcription	HepG2	liver
6	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
7	chr18:12439400-12468200	Weak transcription	K562	blood
8	chr18:12441600-12452200	Weak transcription	Hela-S3	cervix
9	chr18:12442000-12459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:12443200-12457400	Strong transcription	HSMM	muscle
11	chr18:12443600-12454600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:12444000-12460200	Weak transcription	Fetal Intestine Large	intestine
13	chr18:12444000-12467400	Weak transcription	A549	lung
14	chr18:12444200-12463200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr18:12444400-12453400	Weak transcription	Small Intestine	intestine
16	chr18:12444400-12458600	Weak transcription	Fetal Heart	heart
17	chr18:12444400-12465800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:12444600-12450200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:12444600-12455800	Weak transcription	Fetal Kidney	kidney
20	chr18:12444600-12457600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:12444600-12459400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr18:12444800-12450400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr18:12444800-12450800	Strong transcription	Fetal Brain Female	brain
25	chr18:12445000-12450000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:12445000-12454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr18:12445600-12459200	Weak transcription	Fetal Intestine Small	intestine
28	chr18:12445600-12460800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:12445800-12459000	Weak transcription	Placenta	Placenta
30	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:12446600-12452000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:12446800-12450000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:12446800-12452800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:12446800-12455000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:12447000-12449800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr18:12447000-12449800	Strong transcription	Left Ventricle	heart
37	chr18:12447000-12450400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr18:12447000-12452800	Strong transcription	Brain Germinal Matrix	brain
39	chr18:12447000-12454600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:12447000-12454800	Strong transcription	Fetal Muscle Leg	muscle
41	chr18:12447000-12460800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr18:12447200-12452400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr18:12447200-12453000	Strong transcription	HSMMtube	muscle
44	chr18:12447600-12450000	Strong transcription	NH-A	brain
45	chr18:12447800-12449800	Strong transcription	NHEK	skin
46	chr18:12447800-12454600	Weak transcription	Brain Substantia Nigra	brain
47	chr18:12447800-12459200	Weak transcription	Fetal Lung	lung
48	chr18:12447800-12461200	Weak transcription	Colon Smooth Muscle	Colon
49	chr18:12448000-12450000	Strong transcription	Brain Hippocampus Middle	brain
50	chr18:12448000-12463000	Weak transcription	Psoas Muscle	Psoas

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