Variant report

Variant	esv2756288
Chromosome Location	chr10:55169541-55237139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr10:55236413-55237624	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:55217223-55217233	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr10:55191987-55192023	GM12878	blood:	n/a	n/a
4	BHLHE40	chr10:55190762-55191068	GM12878	blood:	n/a	n/a
5	BRCA1	chr10:55236620-55237424	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr10:55233744-55234036	HepG2	liver:	n/a	chr10:55233869-55233880
7	CEBPB	chr10:55188572-55188772	HepG2	liver:	n/a	n/a
8	CHD1	chr10:55236611-55237504	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr10:55213075-55213175	LNCaP	prostate:	n/a	chr10:55213102-55213110
10	CTCF	chr10:55213060-55213210	GM12870	blood:	n/a	chr10:55213102-55213110
11	CTCF	chr10:55219020-55219170	BE2_C	brain:	n/a	n/a
12	CTCF	chr10:55213077-55213241	GM12878	blood:	n/a	chr10:55213102-55213110
13	CTCF	chr10:55213060-55213210	GM12871	blood:	n/a	chr10:55213102-55213110
14	CTCF	chr10:55182380-55182530	HEK293	kidney:	n/a	n/a
15	CTCF	chr10:55213100-55213250	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
16	CTCF	chr10:55213040-55213190	SAEC	small airway:	n/a	chr10:55213102-55213110
17	CTCF	chr10:55174899-55174937	GM13976	blood:	n/a	n/a
18	CTCF	chr10:55213055-55213253	Gliobla	brain:	n/a	chr10:55213102-55213110
19	CTCF	chr10:55213063-55213254	HUVEC	blood vessel:	n/a	chr10:55213102-55213110
20	CTCF	chr10:55182960-55183110	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr10:55212976-55213339	GM12878	blood:	n/a	chr10:55213102-55213110
22	CTCF	chr10:55213100-55213250	HEK293	kidney:	n/a	chr10:55213102-55213110
23	CTCF	chr10:55212963-55213275	HepG2	liver:	n/a	chr10:55213102-55213110
24	CTCF	chr10:55213060-55213210	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
25	CTCF	chr10:55213097-55213196	GM10266	blood:	n/a	chr10:55213102-55213110
26	CTCF	chr10:55213080-55213230	A549	lung:	n/a	chr10:55213102-55213110
27	CTCF	chr10:55213080-55213230	Caco-2	colon:	n/a	chr10:55213102-55213110
28	CTCF	chr10:55213142-55213181	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:55213100-55213250	MCF-7	breast:	n/a	chr10:55213102-55213110
30	CTCF	chr10:55213060-55213210	HPF	lung:	n/a	chr10:55213102-55213110
31	CTCF	chr10:55213093-55213215	LNCaP	prostate:	n/a	chr10:55213102-55213110
32	CTCF	chr10:55213060-55213210	GM12865	blood:	n/a	chr10:55213102-55213110
33	CTCF	chr10:55213080-55213230	HMEC	breast:	n/a	chr10:55213102-55213110
34	CTCF	chr10:55182380-55182530	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr10:55213080-55213230	HepG2	liver:	n/a	chr10:55213102-55213110
36	CTCF	chr10:55213140-55213290	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr10:55213060-55213210	AG04450	lung:	n/a	chr10:55213102-55213110
38	CTCF	chr10:55175467-55175555	GM13976	blood:	n/a	n/a
39	CTCF	chr10:55212920-55213070	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr10:55213060-55213210	HRPEpiC	eye:	n/a	chr10:55213102-55213110
41	CTCF	chr10:55213000-55213150	HEEpiC	esophagus:	n/a	chr10:55213102-55213110
42	CTCF	chr10:55213120-55213270	GM12865	blood:	n/a	n/a
43	CTCF	chr10:55213075-55213236	MCF-7	breast:	n/a	chr10:55213102-55213110
44	CTCF	chr10:55213040-55213190	RPTEC	kidney:	n/a	chr10:55213102-55213110
45	CTCF	chr10:55182340-55182490	Caco-2	colon:	n/a	n/a
46	CTCF	chr10:55213000-55213150	HMEC	breast:	n/a	chr10:55213102-55213110
47	CTCF	chr10:55213100-55213250	HUVEC	blood vessel:	n/a	chr10:55213102-55213110
48	CTCF	chr10:55213100-55213250	HRE	kidney:	n/a	chr10:55213102-55213110
49	CTCF	chr10:55212740-55212890	SAEC	small airway:	n/a	n/a
50	CTCF	chr10:55212980-55213130	HAc	cerebellar:	n/a	chr10:55213102-55213110

No.	Distal block	Cell Line	Cell type
1	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:
2	chr10:55171490..55173538-chr10:55175367..55178317,2	K562	blood:
3	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:
4	chr10:55171490..55173538-chr10:55175367..55178317,2	K562	blood:

Variant related genes	Relation type
RNA5SP318	TF binding region

Extended variants
information (count: 2420 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2420 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12412561	chr10:55169541-55169542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561267253	chr10:55169596-55169597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530174835	chr10:55169600-55169601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371197449	chr10:55169606-55169607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181610164	chr10:55169660-55169661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545608146	chr10:55169683-55169684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567025528	chr10:55169694-55169695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532574946	chr10:55169757-55169758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552771585	chr10:55169765-55169766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569447973	chr10:55169785-55169786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565076259	chr10:55169829-55169830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538152603	chr10:55169869-55169870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143804939	chr10:55169870-55169871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12412576	chr10:55169871-55169872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199499840	chr10:55169872-55169873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200908168	chr10:55169873-55169874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12413790	chr10:55169899-55169900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567340980	chr10:55169903-55169904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56012814	chr10:55169907-55169908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185397307	chr10:55169976-55169977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199803367	chr10:55170023-55170024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375572706	chr10:55170024-55170025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553567619	chr10:55170042-55170043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531983302	chr10:55170057-55170058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548896947	chr10:55170069-55170070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545667672	chr10:55170100-55170101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556367930	chr10:55170102-55170103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576356610	chr10:55170125-55170126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74134579	chr10:55170222-55170223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374606898	chr10:55170263-55170264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561230352	chr10:55170273-55170274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530138699	chr10:55170360-55170361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540650116	chr10:55170380-55170381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560366880	chr10:55170457-55170458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532686327	chr10:55170547-55170548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190328859	chr10:55170558-55170559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547493117	chr10:55170567-55170568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531852144	chr10:55170596-55170597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76318897	chr10:55176031-55176032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs116118613	chr10:55176038-55176039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551113654	chr10:55176056-55176057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs567792347	chr10:55176068-55176069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530217776	chr10:55176080-55176081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547214958	chr10:55176112-55176113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141593293	chr10:55176140-55176141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112580043	chr10:55176162-55176163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147104525	chr10:55176193-55176194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs374664044	chr10:55176408-55176409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530908385	chr10:55176418-55176419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs118047050	chr10:55176448-55176449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55167000-55170000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:55170000-55170600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:55176000-55176200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr10:55176400-55176600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr10:55176600-55179000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:55176600-55185600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:55179000-55182400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:55181800-55182600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr10:55182000-55182200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:55182000-55182600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:55182200-55184400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:55182400-55183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:55182400-55200400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55182600-55186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:55184400-55184600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55184600-55200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:55185600-55186200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr10:55186000-55206600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:55188400-55189400	Enhancers	Liver	Liver
20	chr10:55188800-55189000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr10:55189200-55190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:55190000-55190400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:55190000-55190800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:55190000-55190800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:55190200-55190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:55190400-55190600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr10:55190400-55194000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:55190600-55198600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:55190600-55199200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:55191200-55191400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr10:55191400-55192000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:55192000-55192200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:55192200-55194600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:55194000-55194200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr10:55194200-55194800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr10:55194600-55195200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:55194800-55195000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr10:55194800-55195000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr10:55195200-55198800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:55198600-55199400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:55198600-55199400	Enhancers	Fetal Kidney	kidney
42	chr10:55198800-55199200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:55198800-55199200	Enhancers	Placenta	Placenta
44	chr10:55198800-55199200	Active TSS	Fetal Stomach	stomach
45	chr10:55198800-55199400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr10:55198800-55199400	Enhancers	Fetal Heart	heart
47	chr10:55199200-55199400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr10:55199200-55199600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr10:55199400-55200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:55199400-55206800	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links