Variant report

Variant	esv3389270
Chromosome Location	chr2:96656575-96657673
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	chr2:96657356-96657461	HepG2	liver:	n/a	n/a
2	BATF	chr2:96657475-96657892	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:96657495-96657685	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:96657453-96657904	HepG2	liver:	n/a	n/a
5	BRCA1	chr2:96657456-96657485	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr2:96657325-96658290	K562	blood:	n/a	n/a
7	CEBPD	chr2:96657560-96657977	K562	blood:	n/a	n/a
8	CHD1	chr2:96657191-96657571	IMR90	lung:	n/a	n/a
9	CHD2	chr2:96657404-96657454	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:96657509-96659151	A549	lung:	n/a	chr2:96658689-96658697 chr2:96658684-96658702 chr2:96658753-96658769 chr2:96658686-96658707 chr2:96658752-96658770 chr2:96658754-96658775 chr2:96658205-96658218 chr2:96658100-96658113
11	CTCF	chr2:96657584-96657712	A549	lung:	n/a	n/a
12	CTCF	chr2:96657499-96659122	K562	blood:	n/a	chr2:96658689-96658697 chr2:96658684-96658702 chr2:96658753-96658769 chr2:96658686-96658707 chr2:96658752-96658770 chr2:96658754-96658775 chr2:96658205-96658218 chr2:96658100-96658113
13	CTCF	chr2:96657636-96657790	GM10266	blood:	n/a	n/a
14	CTCF	chr2:96657502-96658300	A549	lung:	n/a	chr2:96658205-96658218 chr2:96658100-96658113
15	CTCF	chr2:96657498-96658481	Spleen_OC	spleen:	n/a	chr2:96658205-96658218 chr2:96658100-96658113
16	CTCF	chr2:96657608-96657801	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr2:96657635-96657705	GM19238	blood:	n/a	n/a
18	CTCF	chr2:96657611-96657791	GM10248	blood:	n/a	n/a
19	CTCF	chr2:96657577-96657785	Lung_OC	lung:	n/a	n/a
20	CTCF	chr2:96657643-96657791	GM13977	blood:	n/a	n/a
21	CTCF	chr2:96657597-96657710	Gliobla	brain:	n/a	n/a
22	CTCF	chr2:96657593-96657753	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr2:96657610-96657808	GM13976	blood:	n/a	n/a
24	CTCF	chr2:96657643-96657784	LNCaP	prostate:	n/a	n/a
25	CTCF	chr2:96657437-96658324	A549	lung:	n/a	chr2:96658205-96658218 chr2:96658100-96658113
26	CTCF	chr2:96657659-96657740	GM20000	blood:	n/a	n/a
27	CTCF	chr2:96657629-96657703	Fibrobl	skin:	n/a	n/a
28	CTCF	chr2:96657630-96657673	GM12892	blood:	n/a	n/a
29	CTCF	chr2:96657657-96657797	Medullo	brain:	n/a	n/a
30	CTCF	chr2:96657500-96657824	K562	blood:	n/a	n/a
31	CUX1	chr2:96657338-96657378	GM12878	blood:	n/a	n/a
32	E2F6	chr2:96657352-96658167	K562	blood:	n/a	chr2:96657577-96657588 chr2:96658042-96658052
33	E2F6	chr2:96657454-96657584	K562	blood:	n/a	n/a
34	EBF1	chr2:96657440-96658276	GM12878	blood:	n/a	n/a
35	EBF1	chr2:96657406-96658783	GM12878	blood:	n/a	n/a
36	EP300	chr2:96656614-96656852	GM12878	blood:	n/a	n/a
37	EP300	chr2:96657503-96657698	GM12878	blood:	n/a	n/a
38	FOSL2	chr2:96657347-96657897	HepG2	liver:	n/a	n/a
39	FOSL2	chr2:96656636-96656925	HepG2	liver:	n/a	n/a
40	FOSL2	chr2:96657095-96658908	HepG2	liver:	n/a	n/a
41	FOXA1	chr2:96657392-96658355	HepG2	liver:	n/a	n/a
42	FOXA2	chr2:96657347-96658413	A549	lung:	n/a	n/a
43	FOXM1	chr2:96657224-96658969	GM12878	blood:	n/a	n/a
44	FOXM1	chr2:96657473-96658108	GM12878	blood:	n/a	n/a
45	FOXP2	chr2:96657475-96657843	PFSK-1	brain:	n/a	n/a
46	GABPA	chr2:96657463-96657776	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr2:96657580-96657691	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr2:96657426-96657577	Hela-S3	cervix:	n/a	n/a
49	HA-E2F1	chr2:96657288-96658010	MCF-7	breast:	n/a	n/a
50	HEY1	chr2:96657091-96658746	K562	blood:	n/a	chr2:96658458-96658473 chr2:96658194-96658209 chr2:96658478-96658487 chr2:96658146-96658161 chr2:96657728-96657743 chr2:96657730-96657745

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96657403-96657453	HRCEpiC	kidney:	n/a
2	chr2:96657403-96657453	A549	lung:	n/a
3	chr2:96657499-96657549	ProgFib	skin:	n/a
4	chr2:96657403-96657453	HL-60	blood:	n/a
5	chr2:96657403-96657453	SK-N-SH_RA	brain:	n/a
6	chr2:96657499-96657549	AG09319	gingival:	n/a
7	chr2:96657499-96657549	GM12892	blood:	n/a
8	chr2:96657403-96657453	NT2-D1	testis:	n/a
9	chr2:96657403-96657453	HCM	heart:	n/a
10	chr2:96657403-96657453	GM06990	blood:	n/a
11	chr2:96657499-96657549	HRPEpiC	eye:	n/a
12	chr2:96657403-96657453	AG04450	lung:	fetal
13	chr2:96657403-96657453	BE2_C	brain:	n/a
14	chr2:96657403-96657453	GM12891	blood:	n/a
15	chr2:96657403-96657453	Hela-S3	cervix:	n/a
16	chr2:96657499-96657549	HRE	kidney:	n/a
17	chr2:96657499-96657549	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:96657499-96657549	K562	blood:	n/a
19	chr2:96657403-96657453	HepG2	liver:	n/a
20	chr2:96657403-96657453	HRE	kidney:	n/a
21	chr2:96657403-96657453	HNPCEpiC	eye:	n/a
22	chr2:96657499-96657549	GM12878	blood:	n/a
23	chr2:96657499-96657549	BE2_C	brain:	n/a
24	chr2:96657403-96657453	MCF-7	breast:	n/a
25	chr2:96657499-96657549	Caco-2	colon:	n/a
26	chr2:96657499-96657549	AG04450	lung:	fetal
27	chr2:96657403-96657453	NHBE	bronchial:	n/a
28	chr2:96657403-96657453	SK-N-SH	brain:	n/a
29	chr2:96657403-96657453	NB4	blood:	n/a
30	chr2:96657403-96657453	HUVEC	blood vessel:	n/a
31	chr2:96657499-96657549	HL-60	blood:	n/a
32	chr2:96657403-96657453	AG09309	skin:	n/a
33	chr2:96657499-96657549	AG09309	skin:	n/a
34	chr2:96657499-96657549	CMK	blood:	n/a
35	chr2:96657403-96657453	CMK	blood:	n/a
36	chr2:96657403-96657453	ECC-1	luminal epithelium:	n/a
37	chr2:96657403-96657453	HEK293	kidney:	embryo
38	chr2:96657403-96657453	IMR90	lung:	fetal
39	chr2:96657403-96657453	MCF10A-Er-Src	breast:	n/a
40	chr2:96657499-96657549	A549	lung:	n/a
41	chr2:96657403-96657453	K562	blood:	n/a
42	chr2:96657403-96657453	AG09319	gingival:	n/a
43	chr2:96657403-96657453	H1-hESC	embryonic stem cell:	embryo
44	chr2:96657499-96657549	HCM	heart:	n/a
45	chr2:96657499-96657549	PANC-1	pancreas:	n/a
46	chr2:96657403-96657453	Hepatocyte	liver:	n/a
47	chr2:96657403-96657453	HAEpiC	amniotic membrane:	n/a
48	chr2:96657403-96657453	HIPEpiC	eye:	n/a
49	chr2:96657499-96657549	Hela-S3	cervix:	n/a
50	chr2:96657499-96657549	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96656483..96658831-chr2:96781728..96784486,2	K562	blood:
2	chr2:96656872..96660081-chr2:96874473..96876452,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD36C	TF binding region
ANKRD36C	CpG island
ENSG00000084090	chromatin interactions
ENSG00000222040	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574487828	chr2:96656576-96656577	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2260905	chr2:96656630-96656631	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553959191	chr2:96656634-96656635	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182248191	chr2:96656639-96656640	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546159585	chr2:96656650-96656651	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552686412	chr2:96656822-96656823	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562778766	chr2:96657106-96657107	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2918820	chr2:96657154-96657155	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2251264	chr2:96657196-96657197	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576358671	chr2:96657251-96657252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542264689	chr2:96657310-96657311	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115480888	chr2:96657360-96657361	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527820949	chr2:96657371-96657372	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs547552481	chr2:96657379-96657380	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564749169	chr2:96657424-96657425	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533343234	chr2:96657488-96657489	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549923319	chr2:96657521-96657522	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570020355	chr2:96657526-96657527	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535721784	chr2:96657542-96657543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs2579524	chr2:96657551-96657552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548200158	chr2:96657555-96657556	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2579523	chr2:96657561-96657562	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs2579522	chr2:96657565-96657566	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs62155511	chr2:96657575-96657576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs553575719	chr2:96657589-96657590	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs2579521	chr2:96657592-96657593	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs539645776	chr2:96657634-96657635	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556365678	chr2:96657652-96657653	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:96586000-96657200	Weak transcription	Ovary	ovary
4	chr2:96587800-96656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:96611000-96656600	Weak transcription	Osteobl	bone
9	chr2:96611400-96657200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:96616800-96657200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:96617000-96656600	Weak transcription	Fetal Stomach	stomach
12	chr2:96617000-96656800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:96617200-96656800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:96617800-96656600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:96621800-96657200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:96624000-96658200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:96624400-96656600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:96625200-96656600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:96626200-96656600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:96628000-96657200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:96628200-96657200	Weak transcription	Left Ventricle	heart
22	chr2:96641600-96657200	Weak transcription	Fetal Heart	heart
23	chr2:96644000-96656800	Weak transcription	Right Ventricle	heart
24	chr2:96644200-96656600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:96644800-96657200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:96645400-96656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:96645600-96656800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:96645800-96657200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:96645800-96657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:96646000-96656600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:96646000-96657200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:96646400-96656600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:96646400-96656600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:96646400-96656600	Weak transcription	A549	lung
35	chr2:96646400-96656600	Weak transcription	HSMM	muscle
36	chr2:96646400-96657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:96646600-96657200	Weak transcription	Primary T cells from cord blood	blood
38	chr2:96646600-96657200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:96646600-96657200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:96646600-96657200	Weak transcription	Liver	Liver
41	chr2:96646800-96656800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:96646800-96657200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:96648000-96656600	Weak transcription	NHDF-Ad	bronchial
44	chr2:96648400-96656600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:96651200-96656600	Weak transcription	Fetal Thymus	thymus
46	chr2:96652800-96656600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:96653600-96657200	Weak transcription	Fetal Brain Male	brain
48	chr2:96655800-96656600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:96655800-96658400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:96655800-96658600	Active TSS	Fetal Brain Female	brain

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