Variant report

Variant	esv3417763
Chromosome Location	chr2:169744606-169746654
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	BACH1	chr2:169746453-169746544	K562	blood:	n/a	n/a
2	CBX3	chr2:169746085-169747364	K562	blood:	n/a	chr2:169746470-169746481
3	CEBPB	chr2:169746602-169747228	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:169746561-169747327	K562	blood:	n/a	n/a
5	CEBPB	chr2:169746600-169747089	K562	blood:	n/a	n/a
6	CEBPD	chr2:169746495-169747268	K562	blood:	n/a	n/a
7	CEBPD	chr2:169746599-169746984	HepG2	liver:	n/a	n/a
8	CHD2	chr2:169746497-169747318	GM12878	blood:	n/a	n/a
9	CHD2	chr2:169746529-169747449	K562	blood:	n/a	n/a
10	CHD2	chr2:169746583-169747298	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr2:169746467-169747257	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr2:169746628-169747233	GM12878	blood:	n/a	n/a
13	CREB1	chr2:169746616-169747363	HepG2	liver:	n/a	n/a
14	CTCF	chr2:169746500-169746650	GM12872	blood:	n/a	n/a
15	E2F4	chr2:169746550-169747309	GM12878	blood:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
16	E2F4	chr2:169746323-169747444	Hela-S3	cervix:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
17	E2F4	chr2:169746431-169747282	K562	blood:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
18	E2F4	chr2:169745245-169748180	MCF10A-Er-Src	breast:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
19	E2F6	chr2:169746379-169747269	K562	blood:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
20	E2F6	chr2:169746635-169747112	K562	blood:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
21	EGR1	chr2:169746638-169747345	K562	blood:	n/a	chr2:169747287-169747302 chr2:169746871-169746881
22	ELF1	chr2:169746562-169747110	GM12878	blood:	n/a	n/a
23	ELF1	chr2:169746612-169747195	GM12878	blood:	n/a	n/a
24	ELK1	chr2:169746587-169746717	K562	blood:	n/a	n/a
25	ETS1	chr2:169746646-169747308	A549	lung:	n/a	chr2:169746949-169746960
26	ETS1	chr2:169746606-169747271	K562	blood:	n/a	chr2:169746949-169746960
27	ETS1	chr2:169746601-169747185	GM12878	blood:	n/a	chr2:169746949-169746960
28	FOXM1	chr2:169746438-169747473	ECC-1	luminal epithelium:	n/a	n/a
29	FOXM1	chr2:169746507-169747297	GM12878	blood:	n/a	n/a
30	GABPA	chr2:169746643-169747325	SK-N-SH	brain:	n/a	n/a
31	GABPA	chr2:169746576-169747145	K562	blood:	n/a	n/a
32	GABPA	chr2:169746639-169747316	MCF-7	breast:	n/a	n/a
33	GABPA	chr2:169746586-169747327	A549	lung:	n/a	n/a
34	HA-E2F1	chr2:169746452-169747336	MCF-7	breast:	n/a	chr2:169746952-169746964 chr2:169746990-169746999
35	HCFC1	chr2:169746145-169747542	K562	blood:	n/a	n/a
36	HCFC1	chr2:169746526-169747487	Hela-S3	cervix:	n/a	n/a
37	HDAC2	chr2:169746623-169747129	HepG2	liver:	n/a	n/a
38	HEY1	chr2:169746262-169746553	HepG2	liver:	n/a	n/a
39	HEY1	chr2:169746585-169747078	K562	blood:	n/a	n/a
40	HEY1	chr2:169746652-169747131	K562	blood:	n/a	n/a
41	HMGN3	chr2:169746494-169747079	K562	blood:	n/a	n/a
42	HNF4A	chr2:169746190-169746436	HepG2	liver:	n/a	chr2:169746292-169746307
43	HNF4G	chr2:169746112-169746524	HepG2	liver:	n/a	chr2:169746292-169746307
44	IRF1	chr2:169745802-169745921	K562	blood:	n/a	chr2:169745804-169745814 chr2:169745802-169745816 chr2:169745804-169745818
45	IRF1	chr2:169746526-169747431	K562	blood:	n/a	chr2:169746925-169746942 chr2:169746990-169746999 chr2:169746766-169746780 chr2:169746760-169746777
46	MAX	chr2:169746643-169747186	MCF-7	breast:	n/a	n/a
47	MAX	chr2:169746471-169747317	A549	lung:	n/a	n/a
48	MAX	chr2:169746425-169747212	K562	blood:	n/a	n/a
49	MAX	chr2:169746576-169747281	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr2:169746591-169747207	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169743474..169745505-chr2:169745561..169748258,2	K562	blood:

Variant related genes	Relation type
SPC25	TF binding region
ENSG00000152253	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117836618	chr2:169744614-169744615	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567977741	chr2:169744646-169744647	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530598408	chr2:169744659-169744660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550379617	chr2:169744719-169744720	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113465169	chr2:169744778-169744779	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373065742	chr2:169744780-169744781	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191238758	chr2:169744805-169744806	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539225539	chr2:169744827-169744828	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184805419	chr2:169744832-169744833	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566328094	chr2:169744848-169744849	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535346091	chr2:169744867-169744868	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554921623	chr2:169744871-169744872	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187706233	chr2:169744886-169744887	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111811373	chr2:169744902-169744903	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557165843	chr2:169744944-169744945	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539879649	chr2:169744973-169744974	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369993653	chr2:169744995-169744996	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373206897	chr2:169744997-169744998	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377383212	chr2:169745022-169745023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561705757	chr2:169745027-169745028	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559134130	chr2:169745033-169745034	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528334355	chr2:169745060-169745061	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541742620	chr2:169745075-169745076	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562040297	chr2:169745076-169745077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530407301	chr2:169745131-169745132	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116805006	chr2:169745133-169745134	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142395609	chr2:169745187-169745188	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370932324	chr2:169745224-169745225	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533062664	chr2:169745239-169745240	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542715338	chr2:169745248-169745249	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552762565	chr2:169745261-169745262	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs193170782	chr2:169745267-169745268	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1467278	chr2:169745275-169745276	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs116503111	chr2:169745278-169745279	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111587117	chr2:169745285-169745286	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199623255	chr2:169745299-169745300	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185061116	chr2:169745308-169745309	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557331173	chr2:169745309-169745310	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576888633	chr2:169745386-169745387	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375198489	chr2:169745434-169745435	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368369206	chr2:169745435-169745436	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189867869	chr2:169745465-169745466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181136220	chr2:169745467-169745468	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570636185	chr2:169745471-169745472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59025301	chr2:169745477-169745478	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201367692	chr2:169745480-169745481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572773262	chr2:169745482-169745483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200453757	chr2:169745483-169745484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552718755	chr2:169745494-169745495	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111561721	chr2:169745501-169745502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Breast cancer	22522925	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:169716000-169745800	Weak transcription	HSMM	muscle
3	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
5	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
6	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:169729600-169745800	Weak transcription	Thymus	Thymus
11	chr2:169730200-169745800	Weak transcription	HUVEC	blood vessel
12	chr2:169731600-169746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:169731800-169746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:169732000-169745800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:169733800-169745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:169734000-169746200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:169734200-169745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:169737600-169745800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:169737800-169745800	Weak transcription	Fetal Heart	heart
20	chr2:169738000-169746000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:169739400-169746400	Weak transcription	Primary T cells from cord blood	blood
22	chr2:169739600-169746000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:169740000-169745200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:169740400-169744800	Strong transcription	Fetal Thymus	thymus
25	chr2:169740600-169744800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:169740600-169745200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:169740600-169745200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:169740600-169745200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:169740600-169745200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:169740600-169745200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:169741000-169744800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:169741200-169744800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:169741400-169745000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:169741600-169744800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:169741600-169745800	Weak transcription	Osteobl	bone
36	chr2:169742000-169745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:169742000-169745800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:169742000-169745800	Weak transcription	NHDF-Ad	bronchial
39	chr2:169742200-169745200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:169742200-169745800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:169742200-169745800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:169742200-169745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:169742200-169745800	Weak transcription	Fetal Kidney	kidney
44	chr2:169742200-169745800	Weak transcription	A549	lung
45	chr2:169742200-169745800	Weak transcription	HMEC	breast
46	chr2:169742400-169746000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:169742600-169745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:169742600-169745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:169742600-169745800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:169742600-169745800	Weak transcription	NHEK	skin

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