Variant report

Variant	nsv458022
Chromosome Location	chr18:8417484-8471457
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	ARID3A	chr18:8444536-8444553	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:8462966-8463037	HepG2	liver:	n/a	n/a
3	ATF3	chr18:8431135-8431270	K562	blood:	n/a	n/a
4	BHLHE40	chr18:8421051-8421251	K562	blood:	n/a	chr18:8421154-8421163
5	CEBPB	chr18:8442317-8442575	A549	lung:	n/a	n/a
6	CEBPB	chr18:8469847-8470026	IMR90	lung:	n/a	n/a
7	CEBPB	chr18:8425421-8425746	IMR90	lung:	n/a	n/a
8	CEBPB	chr18:8461724-8461757	K562	blood:	n/a	n/a
9	CEBPB	chr18:8442367-8442556	HepG2	liver:	n/a	n/a
10	CEBPB	chr18:8467790-8467914	A549	lung:	n/a	n/a
11	CEBPB	chr18:8442421-8442441	K562	blood:	n/a	n/a
12	CEBPB	chr18:8461543-8461785	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr18:8419620-8419828	K562	blood:	n/a	n/a
14	CTCF	chr18:8426579-8426594	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr18:8425620-8425770	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr18:8449912-8450321	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr18:8450040-8450190	AG04449	skin:	n/a	n/a
18	CTCF	chr18:8425460-8425610	AG09309	skin:	n/a	n/a
19	CTCF	chr18:8450040-8450190	BE2_C	brain:	n/a	n/a
20	CTCF	chr18:8450020-8450170	HVMF	connective:	n/a	n/a
21	CTCF	chr18:8450020-8450170	GM12872	blood:	n/a	n/a
22	CTCF	chr18:8425618-8425629	Fibrobl	skin:	n/a	n/a
23	CTCF	chr18:8426520-8426670	HCFaa	heart:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
24	CTCF	chr18:8426440-8426590	WERI-Rb-1	eye:	n/a	chr18:8426573-8426586 chr18:8426576-8426589 chr18:8426576-8426585
25	CTCF	chr18:8426520-8426670	GM12870	blood:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
26	CTCF	chr18:8426500-8426650	NB4	blood:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
27	CTCF	chr18:8450011-8450205	GM12891	blood:	n/a	n/a
28	CTCF	chr18:8461700-8461850	AG04449	skin:	n/a	n/a
29	CTCF	chr18:8426413-8426733	K562	blood:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
30	CTCF	chr18:8450095-8450102	Lung_OC	lung:	n/a	n/a
31	CTCF	chr18:8450040-8450190	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr18:8449789-8450261	A549	lung:	n/a	n/a
33	CTCF	chr18:8426120-8426270	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr18:8450020-8450170	HAc	cerebellar:	n/a	n/a
35	CTCF	chr18:8461708-8461811	ProgFib	skin:	n/a	n/a
36	CTCF	chr18:8450040-8450190	HMEC	breast:	n/a	n/a
37	CTCF	chr18:8426440-8426590	GM12865	blood:	n/a	chr18:8426573-8426586 chr18:8426576-8426589 chr18:8426576-8426585
38	CTCF	chr18:8461700-8461850	AG09319	gingival:	n/a	n/a
39	CTCF	chr18:8451417-8451600	H1-hESC	embryonic stem cell:	n/a	chr18:8451538-8451547
40	CTCF	chr18:8449979-8450267	A549	lung:	n/a	n/a
41	CTCF	chr18:8450060-8450210	GM12875	blood:	n/a	n/a
42	CTCF	chr18:8426480-8426630	AG09319	gingival:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
43	CTCF	chr18:8426480-8426630	RPTEC	kidney:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
44	CTCF	chr18:8449991-8450214	Fibrobl	skin:	n/a	n/a
45	CTCF	chr18:8426470-8426674	HepG2	liver:	n/a	chr18:8426573-8426591 chr18:8426573-8426586 chr18:8426575-8426596 chr18:8426576-8426589 chr18:8426576-8426585
46	CTCF	chr18:8426440-8426590	AG09309	skin:	n/a	chr18:8426573-8426586 chr18:8426576-8426589 chr18:8426576-8426585
47	CTCF	chr18:8449980-8450130	RPTEC	kidney:	n/a	n/a
48	CTCF	chr18:8450020-8450170	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr18:8449740-8449890	AG09309	skin:	n/a	n/a
50	CTCF	chr18:8425580-8425730	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:8449752..8451278-chr18:8456093..8457635,2	K562	blood:
2	chr18:8462977..8465187-chr18:8466352..8468131,2	K562	blood:
3	chr18:8449475..8452045-chr18:8456806..8459364,2	MCF-7	breast:
4	chr18:8426144..8427070-chr18:8480205..8481117,3	MCF-7	breast:
5	chr18:8449752..8451278-chr18:8456093..8457635,2	K562	blood:
6	chr18:8426103..8426648-chr18:8460801..8461328,2	MCF-7	breast:
7	chr17:41466144..41467700-chr18:8416464..8417984,3	MCF-7	breast:
8	chr18:8449475..8452045-chr18:8456806..8459364,2	MCF-7	breast:
9	chr18:8425527..8427205-chr18:8429443..8431122,2	MCF-7	breast:
10	chr18:8426103..8426648-chr18:8460801..8461328,2	MCF-7	breast:
11	chr18:8425527..8427205-chr18:8429443..8431122,2	MCF-7	breast:
12	chr18:8417024..8419314-chr18:8479374..8481193,2	MCF-7	breast:
13	chr18:8462977..8465187-chr18:8466352..8468131,2	K562	blood:

Variant related genes	Relation type
RN7SL50P	TF binding region
ENSG00000188825	chromatin interactions

Extended variants
information (count: 2451 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2451 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs652669	chr18:8417484-8417485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372090064	chr18:8417492-8417493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564783530	chr18:8417500-8417501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577671166	chr18:8417520-8417521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545139766	chr18:8417553-8417554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12957274	chr18:8417597-8417598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547141759	chr18:8417598-8417599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569065113	chr18:8417612-8417613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572269211	chr18:8417641-8417642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs5823010	chr18:8417731-8417732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200639658	chr18:8417732-8417733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs398059029	chr18:8417733-8417734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536398693	chr18:8417773-8417774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529487873	chr18:8417803-8417804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34138166	chr18:8417862-8417863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75426324	chr18:8417958-8417959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1380220	chr18:8418008-8418009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146858131	chr18:8418025-8418026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117662434	chr18:8418036-8418037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369224675	chr18:8418041-8418042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190731575	chr18:8418054-8418055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs683976	chr18:8418060-8418061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs58714972	chr18:8418119-8418120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35342699	chr18:8418207-8418208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs687608	chr18:8418210-8418211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs687602	chr18:8418215-8418216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184170894	chr18:8418244-8418245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568083300	chr18:8418267-8418268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555740060	chr18:8418301-8418302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577637199	chr18:8418314-8418315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373286259	chr18:8418346-8418347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs686797	chr18:8418356-8418357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs638153	chr18:8418406-8418407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs637785	chr18:8418443-8418444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187791345	chr18:8418472-8418473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376424306	chr18:8418481-8418482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35984141	chr18:8418515-8418516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192228824	chr18:8418523-8418524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182891569	chr18:8418524-8418525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139685211	chr18:8418526-8418527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62086601	chr18:8418591-8418592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34603898	chr18:8418593-8418594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565151723	chr18:8418604-8418605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17570985	chr18:8418606-8418607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187189018	chr18:8418616-8418617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373533571	chr18:8418630-8418631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559893867	chr18:8418660-8418661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117385058	chr18:8418673-8418674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144559426	chr18:8418679-8418680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540309468	chr18:8418689-8418690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8412600-8423000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8415600-8417800	Enhancers	Placenta	Placenta
3	chr18:8416400-8422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:8417000-8420200	Weak transcription	HepG2	liver
5	chr18:8417000-8423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8417400-8423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:8420200-8420600	Enhancers	HepG2	liver
8	chr18:8420600-8423000	Weak transcription	HepG2	liver
9	chr18:8422400-8423600	Enhancers	Adipose Nuclei	Adipose
10	chr18:8422400-8426000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:8422600-8423600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:8422600-8424200	Enhancers	NHEK	skin
13	chr18:8422800-8423200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr18:8422800-8423800	Enhancers	HMEC	breast
15	chr18:8423000-8423200	Enhancers	HepG2	liver
16	chr18:8423000-8423600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:8423000-8423600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr18:8423000-8423600	Enhancers	HSMMtube	muscle
19	chr18:8423000-8423800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr18:8423000-8423800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8423000-8423800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:8423000-8423800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:8423000-8423800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:8423000-8423800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:8423000-8423800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:8423000-8423800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:8423000-8423800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:8423000-8423800	Enhancers	Fetal Muscle Leg	muscle
29	chr18:8423000-8423800	Enhancers	HSMM	muscle
30	chr18:8423000-8423800	Enhancers	NHDF-Ad	bronchial
31	chr18:8423000-8423800	Enhancers	Osteobl	bone
32	chr18:8423000-8424000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:8423000-8424000	Enhancers	Fetal Muscle Trunk	muscle
34	chr18:8423000-8424000	Enhancers	NH-A	brain
35	chr18:8423000-8426400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:8423200-8423400	Flanking Active TSS	HepG2	liver
37	chr18:8423200-8423800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:8423200-8424000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:8423200-8425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:8423200-8426200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:8423400-8423600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr18:8423400-8423600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr18:8423400-8423600	Enhancers	Right Atrium	heart
44	chr18:8423400-8423600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr18:8423400-8423800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr18:8423600-8424600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr18:8423600-8424600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:8423600-8425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:8423600-8425000	Weak transcription	HSMMtube	muscle
50	chr18:8423600-8425400	Weak transcription	Muscle Satellite Cultured Cells	--

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