Variant report

Variant	esv3450114
Chromosome Location	chr1:223883808-223884305
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	BHLHE40	chr1:223884166-223884495	K562	blood:	n/a	n/a
2	CBX3	chr1:223884040-223884553	K562	blood:	n/a	n/a
3	CCNT2	chr1:223884223-223884403	K562	blood:	n/a	n/a
4	CHD2	chr1:223884085-223884369	K562	blood:	n/a	n/a
5	CTCF	chr1:223884240-223884390	HCT-116	colon:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
6	CTCF	chr1:223884270-223884425	GM20000	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
7	CTCF	chr1:223884118-223884480	H1-hESC	embryonic stem cell:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
8	CTCF	chr1:223884205-223884455	GM10248	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
9	CTCF	chr1:223884240-223884406	Lung_OC	lung:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
10	CTCF	chr1:223884260-223884410	GM12878	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
11	CTCF	chr1:223884240-223884390	HMEC	breast:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
12	CTCF	chr1:223884220-223884370	HBMEC	blood vessel:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
13	CTCF	chr1:223883840-223883990	GM12865	blood:	n/a	n/a
14	CTCF	chr1:223884240-223884390	NHLF	lung:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
15	CTCF	chr1:223884260-223884410	HMF	breast:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
16	CTCF	chr1:223884240-223884390	WERI-Rb-1	eye:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
17	CTCF	chr1:223884181-223884447	GM10266	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
18	CTCF	chr1:223883720-223883870	HCM	heart:	n/a	n/a
19	CTCF	chr1:223884200-223884350	HCPEpiC	choroid plexus:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
20	CTCF	chr1:223884240-223884390	WI-38	lung:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
21	CTCF	chr1:223883820-223883970	GM06990	blood:	n/a	n/a
22	CTCF	chr1:223884240-223884390	HRPEpiC	eye:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
23	CTCF	chr1:223884280-223884430	AG09309	skin:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
24	CTCF	chr1:223884300-223884450	Hela-S3	cervix:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319
25	CTCF	chr1:223884160-223884457	GM19240	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
26	CTCF	chr1:223884220-223884370	RPTEC	kidney:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
27	CTCF	chr1:223884260-223884410	GM12864	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
28	CTCF	chr1:223884105-223884461	Fibrobl	skin:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
29	CTCF	chr1:223884220-223884370	SK-N-SH_RA	brain:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
30	CTCF	chr1:223884220-223884370	Caco-2	colon:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
31	CTCF	chr1:223884013-223884116	GM19238	blood:	n/a	n/a
32	CTCF	chr1:223884169-223884470	Gliobla	brain:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
33	CTCF	chr1:223884200-223884350	HAc	cerebellar:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
34	CTCF	chr1:223884220-223884370	AG04449	skin:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
35	CTCF	chr1:223884139-223884478	GM19238	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
36	CTCF	chr1:223883760-223883910	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr1:223884200-223884350	HCT-116	colon:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
38	CTCF	chr1:223884200-223884350	HCM	heart:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
39	CTCF	chr1:223884218-223884420	Kidney_OC	kidney:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
40	CTCF	chr1:223884280-223884430	HEEpiC	esophagus:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
41	CTCF	chr1:223884220-223884370	BJ	skin:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
42	CTCF	chr1:223884140-223884290	A549	lung:	n/a	n/a
43	CTCF	chr1:223884240-223884390	SAEC	small airway:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
44	CTCF	chr1:223884220-223884370	GM12873	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
45	CTCF	chr1:223884210-223884363	SK-N-SH_RA	brain:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
46	CTCF	chr1:223884240-223884390	GM12875	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
47	CTCF	chr1:223884205-223884431	SK-N-SH_RA	brain:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
48	CTCF	chr1:223884220-223884370	GM12867	blood:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
49	CTCF	chr1:223884220-223884370	AG09319	gingival:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320
50	CTCF	chr1:223883970-223884680	A549	lung:	n/a	chr1:223884310-223884319 chr1:223884304-223884322 chr1:223884306-223884319 chr1:223884299-223884320

No.	Distal block	Cell Line	Cell type
1	chr1:223882722..223885299-chr1:223910440..223912763,2	K562	blood:
2	chr1:223882393..223884567-chr1:223898139..223900023,2	MCF-7	breast:
3	chr1:223882685..223886008-chr1:223887424..223890701,3	MCF-7	breast:

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000162909	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557427419	chr1:223883830-223883831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10799550	chr1:223883868-223883869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs374351604	chr1:223883933-223883934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187679573	chr1:223883936-223883937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs78735301	chr1:223883974-223883975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574266506	chr1:223884036-223884037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544959987	chr1:223884091-223884092	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563169067	chr1:223884097-223884098	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527595033	chr1:223884101-223884102	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61823964	chr1:223884232-223884233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs564405905	chr1:223884279-223884280	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566364941	chr1:223884287-223884288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545396969	chr1:223884289-223884290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223876400-223885600	Weak transcription	A549	lung
2	chr1:223878800-223884000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:223881400-223884200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:223881800-223887000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:223882800-223884400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223883600-223884200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:223883600-223887800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:223883800-223884200	Enhancers	Osteobl	bone
9	chr1:223883800-223884400	Enhancers	K562	blood
10	chr1:223883800-223884600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:223883800-223887600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:223884000-223884200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:223884000-223884200	Enhancers	HSMM	muscle
14	chr1:223884000-223884200	Enhancers	NH-A	brain
15	chr1:223884000-223884200	Enhancers	NHLF	lung
16	chr1:223884000-223884400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:223884000-223884400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:223884000-223884400	Enhancers	Pancreas	Pancrea
19	chr1:223884000-223888400	Weak transcription	Right Atrium	heart
20	chr1:223884200-223884400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:223884200-223884400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:223884200-223884400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:223884200-223884400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:223884200-223884400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:223884200-223884400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:223884200-223885600	Weak transcription	NHLF	lung
27	chr1:223884200-223885800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:223884200-223885800	Weak transcription	HSMM	muscle
29	chr1:223884200-223885800	Weak transcription	Osteobl	bone
30	chr1:223884200-223886200	Weak transcription	NH-A	brain
31	chr1:223884200-223887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:223884200-223888000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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