Variant report

Variant	esv3421532
Chromosome Location	chr7:104571416-104575714
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	ATF1	chr7:104573480-104573680	K562	blood:	n/a	n/a
2	BACH1	chr7:104574229-104574236	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:104571637-104571639	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr7:104573457-104573866	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:104573937-104574189	GM12878	blood:	n/a	n/a
6	CTCF	chr7:104572040-104572190	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:104573546-104573667	GM19239	blood:	n/a	n/a
8	CTCF	chr7:104571640-104571790	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr7:104573503-104573581	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:104571640-104571790	HepG2	liver:	n/a	n/a
11	CTCF	chr7:104571740-104571890	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr7:104571700-104571850	GM12872	blood:	n/a	n/a
13	EBF1	chr7:104574099-104574211	GM12878	blood:	n/a	chr7:104574149-104574160
14	EP300	chr7:104571306-104572531	SK-N-SH	brain:	n/a	n/a
15	EP300	chr7:104574907-104575533	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr7:104571356-104572298	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr7:104571508-104572409	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr7:104573931-104574722	ECC-1	luminal epithelium:	n/a	chr7:104574121-104574135 chr7:104574309-104574322 chr7:104574444-104574458
19	EP300	chr7:104571770-104572352	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr7:104573995-104574632	ECC-1	luminal epithelium:	n/a	chr7:104574121-104574135 chr7:104574309-104574322 chr7:104574444-104574458
21	EP300	chr7:104571855-104572262	SK-N-SH_RA	brain:	n/a	n/a
22	GATA2	chr7:104571461-104572300	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr7:104571788-104572349	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr7:104571913-104572192	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:104571902-104572389	SK-N-SH	brain:	n/a	n/a
26	JUN	chr7:104571766-104571811	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr7:104573425-104574186	NB4	blood:	n/a	chr7:104573654-104573664
28	MAX	chr7:104573639-104573782	K562	blood:	n/a	chr7:104573654-104573664
29	MAZ	chr7:104573511-104573571	K562	blood:	n/a	n/a
30	MYC	chr7:104573488-104573641	MCF-7	breast:	n/a	n/a
31	NFIC	chr7:104571378-104572324	ECC-1	luminal epithelium:	n/a	n/a
32	NFIC	chr7:104571449-104572197	ECC-1	luminal epithelium:	n/a	n/a
33	NR2C2	chr7:104573305-104573847	GM12878	blood:	n/a	n/a
34	NRF1	chr7:104572956-104573024	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:104573697-104573794	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:104573514-104573529	Gliobla	brain:	n/a	n/a
37	POLR2A	chr7:104573538-104573586	Gliobla	brain:	n/a	n/a
38	POLR2A	chr7:104572028-104572234	SK-N-MC	brain:	n/a	n/a
39	POU2F2	chr7:104573278-104573786	GM12891	blood:	n/a	n/a
40	RAD21	chr7:104571880-104572278	SK-N-SH_RA	brain:	n/a	n/a
41	RAD21	chr7:104572030-104572228	SK-N-SH_RA	brain:	n/a	n/a
42	REST	chr7:104571953-104572253	SK-N-SH	brain:	n/a	n/a
43	RXRA	chr7:104571673-104572223	H1-hESC	embryonic stem cell:	n/a	chr7:104571842-104571858 chr7:104571814-104571828 chr7:104571882-104571898
44	SIN3A	chr7:104571850-104572160	H1-hESC	embryonic stem cell:	n/a	n/a
45	SPI1	chr7:104573912-104574203	GM12878	blood:	n/a	chr7:104574067-104574080
46	SPI1	chr7:104574014-104574272	GM12891	blood:	n/a	chr7:104574067-104574080 chr7:104574238-104574251
47	SPI1	chr7:104573863-104574355	HL-60	blood:	n/a	chr7:104574067-104574080 chr7:104574238-104574251
48	SPI1	chr7:104575680-104575943	HL-60	blood:	n/a	n/a
49	SUZ12	chr7:104573406-104573839	H1-hESC	embryonic stem cell:	n/a	n/a
50	TCF12	chr7:104571378-104572262	ECC-1	luminal epithelium:	n/a	chr7:104572010-104572020 chr7:104571676-104571683 chr7:104571934-104571944 chr7:104572014-104572021 chr7:104571935-104571942

No.	Distal block	Cell Line	Cell type
1	chr7:104571846..104574043-chr7:104575811..104577393,2	K562	blood:
2	chr7:104571186..104579198-chr7:104651179..104656823,10	K562	blood:
3	chr7:104570950..104573413-chr7:104580025..104582292,3	K562	blood:
4	chr7:104569608..104571154-chr7:104573802..104576090,2	K562	blood:
5	chr7:104572713..104579198-chr7:104651179..104657046,8	K562	blood:
6	chr7:104570597..104573173-chr7:104577411..104579738,2	K562	blood:
7	chr7:104575620..104578348-chr7:104578696..104581663,3	MCF-7	breast:
8	chr7:104575632..104577873-chr7:104582930..104585448,3	K562	blood:
9	chr7:104566756..104568600-chr7:104570794..104572852,2	K562	blood:
10	chr7:104571417..104573413-chr7:104580025..104582244,2	K562	blood:
11	chr7:104568830..104571108-chr7:104573802..104575373,2	K562	blood:
12	chr7:104573476..104576599-chr7:104652408..104655277,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-3	chr7:104574987-104575139	NONHSAT122582

Variant related genes	Relation type
ENSG00000225329	TF binding region
ENSG00000239569	chromatin interactions
ENSG00000237513	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000225329	chromatin interactions
ENSG00000005483	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369412197	chr7:104571426-104571427	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs182965776	chr7:104571450-104571451	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs77245555	chr7:104571490-104571491	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs116446293	chr7:104571517-104571518	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs188717929	chr7:104571555-104571556	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs547527679	chr7:104571576-104571577	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs368414946	chr7:104571583-104571584	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs558847694	chr7:104571589-104571590	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs572266986	chr7:104571622-104571623	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs28628424	chr7:104571623-104571624	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs183471197	chr7:104571721-104571722	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs574551991	chr7:104571722-104571723	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs142363534	chr7:104571739-104571740	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs569816596	chr7:104571741-104571742	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs187366059	chr7:104571779-104571780	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs192188931	chr7:104571791-104571792	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs546162748	chr7:104571840-104571841	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs559959472	chr7:104571860-104571861	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs569975421	chr7:104571874-104571875	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs117079129	chr7:104571901-104571902	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs140464058	chr7:104571934-104571935	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs145339009	chr7:104571955-104571956	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs529813539	chr7:104572052-104572053	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs549932931	chr7:104572079-104572080	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs12333765	chr7:104572121-104572122	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532301437	chr7:104572186-104572187	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs566086970	chr7:104572226-104572227	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs34814427	chr7:104572291-104572292	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs535055521	chr7:104572294-104572295	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs549168310	chr7:104572308-104572309	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs147757661	chr7:104572370-104572371	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs142630392	chr7:104572486-104572487	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs184705444	chr7:104572533-104572534	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs146893013	chr7:104572548-104572549	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs12333819	chr7:104572549-104572550	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138893951	chr7:104572616-104572617	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs369503526	chr7:104572692-104572693	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs576937979	chr7:104572716-104572717	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs546347056	chr7:104572788-104572789	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs553291311	chr7:104572802-104572803	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs573475448	chr7:104572803-104572804	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs188447587	chr7:104572811-104572812	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs148973473	chr7:104572812-104572813	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs143087216	chr7:104572841-104572842	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs543459124	chr7:104572844-104572845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs563345654	chr7:104572846-104572847	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs192229437	chr7:104572949-104572950	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs79801547	chr7:104572961-104572962	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs565777457	chr7:104572962-104572963	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs373007342	chr7:104573006-104573007	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104558400-104571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104562600-104571800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:104563800-104571800	Weak transcription	Fetal Heart	heart
4	chr7:104563800-104571800	Weak transcription	Right Atrium	heart
5	chr7:104563800-104571800	Weak transcription	Hela-S3	cervix
6	chr7:104563800-104573400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:104564000-104571800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:104564000-104571800	Weak transcription	Lung	lung
9	chr7:104564000-104572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:104564000-104574600	Weak transcription	HSMM	muscle
11	chr7:104567200-104575200	Enhancers	Fetal Intestine Small	intestine
12	chr7:104568000-104571600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:104568000-104571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:104568000-104571600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:104568000-104571600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:104568000-104571600	Weak transcription	Pancreas	Pancrea
17	chr7:104568000-104573400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:104568200-104571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:104568200-104571600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:104568200-104571600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:104568200-104571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:104568200-104571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:104568200-104573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:104568400-104571600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:104568400-104571600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:104569400-104571600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:104569800-104571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:104569800-104571600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:104569800-104571600	Weak transcription	Gastric	stomach
30	chr7:104569800-104571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:104569800-104580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
33	chr7:104570000-104573400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:104570200-104574400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:104570400-104572200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:104570400-104575400	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:104570600-104571600	Weak transcription	Spleen	Spleen
40	chr7:104570600-104572800	Enhancers	Primary B cells from cord blood	blood
41	chr7:104570600-104575400	Enhancers	Stomach Mucosa	stomach
42	chr7:104570800-104571800	Weak transcription	Small Intestine	intestine
43	chr7:104571000-104572200	Enhancers	HepG2	liver
44	chr7:104571200-104573000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:104571400-104572000	Enhancers	Fetal Kidney	kidney
46	chr7:104571400-104572200	Enhancers	Fetal Muscle Leg	muscle
47	chr7:104571400-104572200	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:104571400-104572400	Enhancers	Colonic Mucosa	Colon
49	chr7:104571400-104574200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr7:104571400-104575200	Enhancers	Fetal Intestine Large	intestine

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