Variant report

Variant	esv3314685
Chromosome Location	chr10:43182607-43186731
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	CTCF	chr10:43186100-43186250	Caco-2	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
2	CTCF	chr10:43185925-43185970	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:43186161-43186225	GM12891	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
4	CTCF	chr10:43186060-43186210	HepG2	liver:	n/a	chr10:43186191-43186209
5	CTCF	chr10:43186120-43186270	HCT-116	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
6	CTCF	chr10:43186120-43186270	Caco-2	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
7	CTCF	chr10:43186100-43186250	WERI-Rb-1	eye:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
8	CTCF	chr10:43186168-43186222	Spleen_OC	spleen:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
9	CTCF	chr10:43186060-43186210	GM12872	blood:	n/a	chr10:43186191-43186209
10	CTCF	chr10:43186100-43186250	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
11	CTCF	chr10:43185925-43186326	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
12	CTCF	chr10:43186120-43186270	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
13	CTCF	chr10:43186160-43186310	A549	lung:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
14	CTCF	chr10:43186100-43186250	HEK293	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
15	CTCF	chr10:43186066-43186279	Gliobla	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
16	CTCF	chr10:43186160-43186310	GM12873	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
17	CTCF	chr10:43186023-43186326	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
18	CTCF	chr10:43185859-43186469	MCF-7	breast:	n/a	chr10:43186347-43186360 chr10:43186191-43186209 chr10:43186193-43186214
19	CTCF	chr10:43185990-43185994	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:43186180-43186330	HEK293	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
21	CTCF	chr10:43186015-43186310	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
22	CTCF	chr10:43186036-43186337	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
23	CTCF	chr10:43186111-43186288	LNCaP	prostate:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
24	CTCF	chr10:43186070-43186305	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
25	CTCF	chr10:43186107-43186267	Hela-S3	cervix:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
26	CTCF	chr10:43185995-43186326	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
27	CTCF	chr10:43186139-43186254	GM12878	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
28	CTCF	chr10:43186140-43186290	WERI-Rb-1	eye:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
29	CTCF	chr10:43186098-43186259	LNCaP	prostate:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
30	CTCF	chr10:43185975-43186315	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
31	CTCF	chr10:43186160-43186310	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
32	CTCF	chr10:43186100-43186250	Hela-S3	cervix:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
33	CTCF	chr10:43186045-43186260	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
34	CTCF	chr10:43185945-43186315	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
35	CTCF	chr10:43185888-43186325	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
36	CTCF	chr10:43186100-43186250	NHEK	skin:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
37	CTCF	chr10:43186220-43186370	GM06990	blood:	n/a	chr10:43186347-43186360
38	CTCF	chr10:43186080-43186230	GM06990	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
39	CTCF	chr10:43185983-43186284	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
40	CTCF	chr10:43185547-43187555	SK-N-SH	brain:	n/a	chr10:43186347-43186360 chr10:43186191-43186209 chr10:43186193-43186214
41	CTCF	chr10:43186088-43186297	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
42	CTCF	chr10:43185820-43185970	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr10:43186066-43186295	A549	lung:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
44	CTCF	chr10:43186054-43186283	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
45	CTCF	chr10:43185800-43185950	HepG2	liver:	n/a	n/a
46	CTCF	chr10:43186080-43186230	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
47	CTCF	chr10:43186120-43186270	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
48	CTCF	chr10:43186108-43186272	H1-hESC	embryonic stem cell:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
49	CTCF	chr10:43185840-43185990	HepG2	liver:	n/a	n/a
50	CTCF	chr10:43186100-43186250	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214

No.	Distal block	Cell Line	Cell type
1	chr10:43132101..43134395-chr10:43180123..43182624,3	K562	blood:
2	chr10:43132526..43135261-chr10:43184647..43186574,3	MCF-7	breast:
3	chr10:43179370..43182447-chr10:43184174..43186310,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-1	chr10:43186181-43186249	NONHSAT139966

Variant related genes	Relation type
ENSG00000234864	TF binding region
ENSG00000272373	chromatin interactions
ENSG00000196693	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191646974	chr10:43182608-43182609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184114178	chr10:43182653-43182654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188854369	chr10:43182683-43182684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79618779	chr10:43182755-43182756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562418366	chr10:43182769-43182770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117744337	chr10:43182787-43182788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77404145	chr10:43182811-43182812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12260958	chr10:43182818-43182819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140257237	chr10:43182828-43182829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576381714	chr10:43182830-43182831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115917007	chr10:43182899-43182900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561829663	chr10:43182974-43182975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114203313	chr10:43183059-43183060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185242630	chr10:43183072-43183073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35745281	chr10:43183101-43183102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116427932	chr10:43183162-43183163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190480470	chr10:43183173-43183174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74418287	chr10:43183179-43183180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557822330	chr10:43183192-43183193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570302466	chr10:43183210-43183211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2473114	chr10:43183225-43183226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs182321207	chr10:43183228-43183229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547046673	chr10:43183244-43183245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530065066	chr10:43183264-43183265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370335047	chr10:43183291-43183292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373878041	chr10:43183296-43183297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530530831	chr10:43183321-43183322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572158147	chr10:43183334-43183335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113418400	chr10:43183338-43183339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370635605	chr10:43183352-43183353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576291279	chr10:43183379-43183380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372396204	chr10:43183395-43183396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186039706	chr10:43183399-43183400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376289143	chr10:43183414-43183415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573710457	chr10:43183424-43183425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188409231	chr10:43183534-43183535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559597288	chr10:43183581-43183582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115790125	chr10:43183652-43183653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529242615	chr10:43183653-43183654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551730253	chr10:43183656-43183657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148015177	chr10:43183719-43183720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531260066	chr10:43183732-43183733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141694026	chr10:43183742-43183743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181173987	chr10:43183768-43183769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528900063	chr10:43183773-43183774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371101630	chr10:43183891-43183892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547464911	chr10:43183893-43183894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565677845	chr10:43183894-43183895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539602566	chr10:43183906-43183907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185592771	chr10:43183909-43183910	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43176200-43183000	Weak transcription	K562	blood
2	chr10:43182800-43184200	Enhancers	Stomach Mucosa	stomach
3	chr10:43183000-43183200	Enhancers	K562	blood
4	chr10:43183200-43183800	Weak transcription	K562	blood
5	chr10:43183800-43184000	Enhancers	K562	blood
6	chr10:43183800-43184200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:43184000-43185200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:43184400-43185000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr10:43184400-43185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:43184600-43185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:43184600-43185600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:43184600-43185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:43185600-43186200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:43185600-43186600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:43185800-43186200	Enhancers	Pancreas	Pancrea
16	chr10:43186200-43190400	Weak transcription	Pancreas	Pancrea
17	chr10:43186600-43187000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links