Variant report

Variant	esv3497577
Chromosome Location	chr10:97206312-97209110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97208296..97210918-chr10:97214931..97216781,2	K562	blood:
2	chr10:97204685..97206327-chr10:97285189..97287313,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542207312	chr10:97206340-97206341	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370139459	chr10:97206347-97206348	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561704231	chr10:97206367-97206368	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530925440	chr10:97206372-97206373	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550630547	chr10:97206393-97206394	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563969780	chr10:97206420-97206421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576990325	chr10:97206476-97206477	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544428303	chr10:97206493-97206494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533136457	chr10:97206536-97206537	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546622081	chr10:97206552-97206553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76677138	chr10:97206578-97206579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367837785	chr10:97206579-97206580	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529128951	chr10:97206597-97206598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs9633700	chr10:97206619-97206620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568837491	chr10:97206630-97206631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561311303	chr10:97206631-97206632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143384907	chr10:97206646-97206647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73321259	chr10:97206675-97206676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571097510	chr10:97206701-97206702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540019762	chr10:97206713-97206714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375640980	chr10:97206743-97206744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575301190	chr10:97206770-97206771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148689107	chr10:97206785-97206786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542122346	chr10:97206804-97206805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555360595	chr10:97206829-97206830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575214721	chr10:97206830-97206831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563000630	chr10:97206852-97206853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147169071	chr10:97206858-97206859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4917689	chr10:97206869-97206870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533028235	chr10:97206897-97206898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540425956	chr10:97206909-97206910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560049411	chr10:97206915-97206916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113703525	chr10:97206917-97206918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201460914	chr10:97206919-97206920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199900255	chr10:97206920-97206921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373020225	chr10:97206921-97206922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549271024	chr10:97206925-97206926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568904094	chr10:97206926-97206927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200903806	chr10:97206958-97206959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547010384	chr10:97207010-97207011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551548645	chr10:97207058-97207059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571322315	chr10:97207097-97207098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533609200	chr10:97207143-97207144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73321260	chr10:97207152-97207153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560816412	chr10:97207169-97207170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550042384	chr10:97207228-97207229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558452448	chr10:97207249-97207250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368222290	chr10:97207268-97207269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142114184	chr10:97207270-97207271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535772529	chr10:97207330-97207331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97171000-97208000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:97190200-97207200	Weak transcription	Colonic Mucosa	Colon
3	chr10:97190800-97208200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:97193400-97210800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:97193800-97208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:97197600-97207400	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:97197600-97207600	Weak transcription	Brain Germinal Matrix	brain
8	chr10:97198400-97207600	Weak transcription	Fetal Brain Female	brain
9	chr10:97200200-97208800	Enhancers	Colon Smooth Muscle	Colon
10	chr10:97200800-97206800	Enhancers	HepG2	liver
11	chr10:97201400-97207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:97201600-97207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:97202800-97209200	Enhancers	Fetal Muscle Leg	muscle
14	chr10:97203200-97208400	Enhancers	Liver	Liver
15	chr10:97203800-97209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:97204000-97208600	Enhancers	Left Ventricle	heart
17	chr10:97204400-97206400	Enhancers	Brain Angular Gyrus	brain
18	chr10:97204600-97206400	Enhancers	Brain Cingulate Gyrus	brain
19	chr10:97204600-97208200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr10:97204600-97208200	Enhancers	Placenta	Placenta
21	chr10:97204600-97208200	Enhancers	Lung	lung
22	chr10:97204600-97208600	Enhancers	Adipose Nuclei	Adipose
23	chr10:97204600-97208600	Enhancers	Fetal Stomach	stomach
24	chr10:97204600-97208800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr10:97204800-97206600	Enhancers	Ovary	ovary
26	chr10:97204800-97206600	Enhancers	Pancreas	Pancrea
27	chr10:97204800-97206600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr10:97204800-97207400	Enhancers	Stomach Mucosa	stomach
29	chr10:97204800-97208200	Enhancers	Fetal Lung	lung
30	chr10:97204800-97208600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:97204800-97209200	Enhancers	Right Atrium	heart
32	chr10:97204800-97209200	Enhancers	Right Ventricle	heart
33	chr10:97205000-97206600	Enhancers	Small Intestine	intestine
34	chr10:97205000-97208200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:97205200-97206400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr10:97205200-97206600	Enhancers	Fetal Intestine Small	intestine
37	chr10:97205200-97211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:97205400-97206600	Enhancers	K562	blood
39	chr10:97205400-97206800	Weak transcription	Fetal Kidney	kidney
40	chr10:97205400-97206800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:97205400-97208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:97205600-97206600	Weak transcription	Psoas Muscle	Psoas
43	chr10:97205600-97206600	Weak transcription	Spleen	Spleen
44	chr10:97205600-97207400	Weak transcription	NHLF	lung
45	chr10:97205600-97207800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:97205600-97208200	Enhancers	HUVEC	blood vessel
47	chr10:97205600-97209000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:97205600-97210200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:97205800-97206600	Enhancers	Fetal Intestine Large	intestine
50	chr10:97205800-97206600	Flanking Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links