Variant report

Variant	nsv825373
Chromosome Location	chr10:49616204-49617680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49613380..49617347-chr10:49637674..49642930,5	K562	blood:
2	chr10:49615597..49618030-chr10:49714235..49716218,3	K562	blood:
3	chr10:49615995..49618408-chr10:49619011..49621814,2	K562	blood:
4	chr10:49613649..49616466-chr10:49619116..49621899,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373449664	chr10:49616213-49616214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139163679	chr10:49616217-49616218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529136039	chr10:49616266-49616267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532061158	chr10:49616351-49616352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572916976	chr10:49616353-49616354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550468264	chr10:49616405-49616406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186474940	chr10:49616414-49616415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529495571	chr10:49616415-49616416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547512161	chr10:49616416-49616417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372681223	chr10:49616456-49616457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565637750	chr10:49616468-49616469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191012482	chr10:49616501-49616502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551100393	chr10:49616559-49616560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569272529	chr10:49616564-49616565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536968149	chr10:49616628-49616629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182726648	chr10:49616656-49616657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567156558	chr10:49616686-49616687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534508178	chr10:49616721-49616722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530796916	chr10:49616742-49616743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554288761	chr10:49616749-49616750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188891904	chr10:49616761-49616762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145235065	chr10:49616766-49616767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193121890	chr10:49616853-49616854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182768454	chr10:49616873-49616874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76346027	chr10:49616990-49616991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562360076	chr10:49616991-49616992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61838697	chr10:49616992-49616993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541272364	chr10:49617023-49617024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559859213	chr10:49617028-49617029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77080412	chr10:49617029-49617030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147494546	chr10:49617032-49617033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369023469	chr10:49617097-49617098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530407562	chr10:49617106-49617107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75573802	chr10:49617120-49617121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200617116	chr10:49617133-49617134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139935578	chr10:49617184-49617185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534869800	chr10:49617185-49617186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552900697	chr10:49617217-49617218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571392955	chr10:49617273-49617274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145352878	chr10:49617285-49617286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558268355	chr10:49617294-49617295	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539984292	chr10:49617302-49617303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73309914	chr10:49617323-49617324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543837459	chr10:49617324-49617325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192221562	chr10:49617341-49617342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183983655	chr10:49617342-49617343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541678741	chr10:49617347-49617348	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559717457	chr10:49617396-49617397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114324167	chr10:49617408-49617409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73309915	chr10:49617428-49617429	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:49599200-49622200	Weak transcription	HepG2	liver
3	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:49600200-49617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:49600400-49616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:49605200-49618000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:49606800-49619800	Weak transcription	Fetal Stomach	stomach
11	chr10:49607600-49616600	Weak transcription	Fetal Thymus	thymus
12	chr10:49607600-49616800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:49607600-49618000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:49607600-49619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:49607600-49619600	Weak transcription	Colonic Mucosa	Colon
16	chr10:49607600-49619600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:49607600-49624200	Weak transcription	Gastric	stomach
18	chr10:49607600-49624200	Weak transcription	Lung	lung
19	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:49607800-49616800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:49607800-49620400	Weak transcription	Stomach Mucosa	stomach
23	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr10:49608200-49618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:49608200-49618200	Weak transcription	Fetal Kidney	kidney
26	chr10:49608200-49619400	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
28	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:49608400-49618200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:49608600-49620200	Weak transcription	Right Ventricle	heart
31	chr10:49608800-49616800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:49608800-49618000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:49608800-49618200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:49608800-49618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:49609000-49617800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:49609000-49620000	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:49609000-49620600	Weak transcription	Hela-S3	cervix
38	chr10:49609200-49616800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:49609200-49618000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:49609200-49618000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:49609200-49618000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:49609200-49618000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:49609200-49618000	Weak transcription	Brain Anterior Caudate	brain
44	chr10:49609200-49618000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr10:49609200-49618000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:49609200-49618200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:49609200-49620000	Weak transcription	GM12878-XiMat	blood
48	chr10:49609200-49620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:49609400-49618200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:49609400-49618800	Weak transcription	Fetal Brain Male	brain

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