Variant report

Variant	esv3359311
Chromosome Location	chr10:50960150-50960722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50957936..50960804-chr10:50966325..50969524,4	K562	blood:
2	chr10:50953032..50956319-chr10:50959013..50960896,3	K562	blood:
3	chr10:50960158..50963082-chr10:50966138..50968051,2	K562	blood:

Variant related genes	Relation type
ENSG00000197444	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2304635	chr10:50960166-50960167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148782910	chr10:50960178-50960179	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141198160	chr10:50960186-50960187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571841376	chr10:50960187-50960188	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150734131	chr10:50960190-50960191	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1258184	chr10:50960209-50960210	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs575553781	chr10:50960215-50960216	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149870355	chr10:50960230-50960231	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147143536	chr10:50960231-50960232	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201458076	chr10:50960232-50960233	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140591945	chr10:50960247-50960248	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144548346	chr10:50960257-50960258	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76889077	chr10:50960281-50960282	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181675764	chr10:50960288-50960289	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377261243	chr10:50960308-50960309	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187088707	chr10:50960309-50960310	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs41281983	chr10:50960314-50960315	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376266906	chr10:50960320-50960321	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562555846	chr10:50960321-50960322	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112975216	chr10:50960330-50960331	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376257321	chr10:50960335-50960336	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2304636	chr10:50960354-50960355	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs561451930	chr10:50960367-50960368	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528803803	chr10:50960484-50960485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547283376	chr10:50960506-50960507	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113236933	chr10:50960514-50960515	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79841511	chr10:50960524-50960525	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551144109	chr10:50960551-50960552	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191170439	chr10:50960574-50960575	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2304637	chr10:50960581-50960582	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs554925309	chr10:50960600-50960601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111840840	chr10:50960606-50960607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574218293	chr10:50960607-50960608	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182821240	chr10:50960621-50960622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533850748	chr10:50960629-50960630	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370392079	chr10:50960635-50960636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11415019	chr10:50960648-50960649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74671228	chr10:50960651-50960652	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189671975	chr10:50960664-50960665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376457953	chr10:50960679-50960680	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374354530	chr10:50960717-50960718	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145063180	chr10:50960718-50960719	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	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	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50940600-50966000	Strong transcription	Liver	Liver
2	chr10:50941200-50965400	Weak transcription	Brain Germinal Matrix	brain
3	chr10:50943200-50969400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:50944000-50969400	Weak transcription	Brain Substantia Nigra	brain
5	chr10:50947800-50960400	Strong transcription	Brain Angular Gyrus	brain
6	chr10:50951600-50969200	Weak transcription	Fetal Intestine Large	intestine
7	chr10:50952600-50968800	Weak transcription	Pancreas	Pancrea
8	chr10:50953400-50969400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:50954400-50962400	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:50955000-50967800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:50955000-50969000	Weak transcription	Ovary	ovary
12	chr10:50955000-50969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:50955200-50964200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:50955400-50960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:50957000-50960800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:50957200-50960400	Strong transcription	Brain Cingulate Gyrus	brain
17	chr10:50957200-50960800	Strong transcription	Brain Anterior Caudate	brain
18	chr10:50957600-50960200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:50957600-50960800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:50957600-50961000	Strong transcription	Fetal Intestine Small	intestine
21	chr10:50958200-50961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:50958400-50960600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:50958600-50960200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:50958800-50960400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:50958800-50960800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:50959400-50960400	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr10:50960000-50960800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:50960000-50962600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:50960000-50964600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:50960000-50969200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:50960200-50960400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr10:50960200-50960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:50960200-50964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:50960400-50960600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:50960400-50964000	Weak transcription	Brain Angular Gyrus	brain
36	chr10:50960400-50965400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:50960400-50968000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:50960600-50963400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:50960600-50964200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:50960600-50969400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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