Variant report

Variant	esv18724
Chromosome Location	chr6:30715634-30716191
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	BCL3	chr6:30715983-30717583	A549	lung:	n/a	n/a
2	CEBPB	chr6:30715731-30716026	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:30715637-30716387	A549	lung:	n/a	chr6:30715647-30715658 chr6:30715647-30715658
4	CEBPB	chr6:30715550-30716058	Hela-S3	cervix:	n/a	chr6:30715647-30715658 chr6:30715647-30715658
5	CEBPB	chr6:30715539-30716074	IMR90	lung:	n/a	chr6:30715647-30715658 chr6:30715647-30715658
6	CEBPB	chr6:30715822-30715938	K562	blood:	n/a	n/a
7	EP300	chr6:30716005-30717903	A549	lung:	n/a	chr6:30717434-30717444
8	EP300	chr6:30716017-30717782	A549	lung:	n/a	chr6:30717434-30717444
9	FOS	chr6:30715914-30717553	HUVEC	blood vessel:	n/a	chr6:30716903-30716914 chr6:30717470-30717481
10	FOS	chr6:30715842-30716367	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:30715916-30716296	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:30715713-30716444	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr6:30715981-30716361	A549	lung:	n/a	n/a
14	FOXA1	chr6:30716086-30716450	T-47D	breast:	n/a	n/a
15	FOXA1	chr6:30715999-30716528	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:30715983-30716581	HepG2	liver:	n/a	n/a
17	FOXA1	chr6:30715917-30716574	HepG2	liver:	n/a	n/a
18	FOXA1	chr6:30716047-30716464	T-47D	breast:	n/a	n/a
19	FOXA1	chr6:30716169-30716468	HepG2	liver:	n/a	n/a
20	FOXA2	chr6:30716076-30716618	A549	lung:	n/a	n/a
21	FOXA2	chr6:30716115-30716475	HepG2	liver:	n/a	n/a
22	FOXA2	chr6:30716084-30717787	A549	lung:	n/a	n/a
23	GATA2	chr6:30715095-30717366	HUVEC	blood vessel:	n/a	chr6:30716241-30716248 chr6:30716237-30716253 chr6:30716237-30716253 chr6:30716241-30716248 chr6:30715588-30715597 chr6:30716519-30716527 chr6:30716241-30716248 chr6:30716234-30716255 chr6:30716242-30716259
24	GATA3	chr6:30716008-30717883	A549	lung:	n/a	chr6:30716241-30716248 chr6:30716237-30716253 chr6:30716237-30716253 chr6:30716241-30716248 chr6:30716519-30716527 chr6:30717569-30717578 chr6:30716241-30716248 chr6:30716234-30716255 chr6:30716242-30716259
25	GATA3	chr6:30716082-30716439	T-47D	breast:	n/a	chr6:30716241-30716248 chr6:30716237-30716253 chr6:30716237-30716253 chr6:30716241-30716248 chr6:30716241-30716248 chr6:30716234-30716255 chr6:30716242-30716259
26	HEY1	chr6:30715836-30717970	HepG2	liver:	n/a	n/a
27	JUN	chr6:30716061-30717362	HUVEC	blood vessel:	n/a	n/a
28	JUN	chr6:30715831-30715962	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr6:30716014-30717899	A549	lung:	n/a	chr6:30716416-30716425
30	MAX	chr6:30716132-30716455	A549	lung:	n/a	chr6:30716416-30716425
31	MAX	chr6:30715895-30715902	HepG2	liver:	n/a	n/a
32	MAX	chr6:30716014-30716625	A549	lung:	n/a	chr6:30716416-30716425
33	MBD4	chr6:30716131-30717537	HepG2	liver:	n/a	n/a
34	MBD4	chr6:30716036-30718053	HepG2	liver:	n/a	n/a
35	MYBL2	chr6:30716126-30718078	HepG2	liver:	n/a	n/a
36	MYBL2	chr6:30715926-30717717	HepG2	liver:	n/a	n/a
37	MYC	chr6:30715752-30716174	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr6:30715728-30716061	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr6:30716167-30716383	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr6:30716046-30716424	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr6:30716108-30717236	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr6:30715731-30717841	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:30715059-30717511	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr6:30716171-30716180	IMR90	lung:	n/a	n/a
45	POLR2A	chr6:30715755-30717556	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr6:30716132-30716505	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:30715860-30718096	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:30714974-30717727	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr6:30716089-30716090	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr6:30715958-30716082	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
2	chr6:30580426..30582836-chr6:30715158..30716772,2	MCF-7	breast:
3	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:
4	chr6:30715564..30717790-chr6:30842191..30844765,2	K562	blood:
5	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
6	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
7	chr6:30715944..30717540-chr6:30787940..30790254,2	K562	blood:

Variant related genes	Relation type
IER3	TF binding region
RN7SL353P	TF binding region
ENSG00000237775	chromatin interactions
ENSG00000214894	chromatin interactions
ENSG00000204580	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542519363	chr6:30715637-30715638	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs534530345	chr6:30715677-30715678	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs190015287	chr6:30715707-30715708	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs138279392	chr6:30715709-30715710	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs549133479	chr6:30715790-30715791	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs556437127	chr6:30715843-30715844	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs192042613	chr6:30715875-30715876	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs535568907	chr6:30715917-30715918	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs534439799	chr6:30716040-30716041	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs561043473	chr6:30716076-30716077	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs149603340	chr6:30716092-30716093	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs4713358	chr6:30716117-30716118	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs58384987	chr6:30716154-30716155	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs73432769	chr6:30716170-30716171	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184104262	chr6:30716171-30716172	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs188494350	chr6:30716177-30716178	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30712200-30719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:30712400-30715800	Weak transcription	Lung	lung
3	chr6:30712600-30715800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:30712600-30715800	Weak transcription	Left Ventricle	heart
5	chr6:30712600-30715800	Weak transcription	Thymus	Thymus
6	chr6:30712600-30715800	Enhancers	NHEK	skin
7	chr6:30712600-30716200	Weak transcription	HSMMtube	muscle
8	chr6:30712600-30716400	Weak transcription	Ovary	ovary
9	chr6:30712600-30716400	Enhancers	Stomach Mucosa	stomach
10	chr6:30712600-30716400	Enhancers	HUVEC	blood vessel
11	chr6:30712600-30719400	Weak transcription	Brain Anterior Caudate	brain
12	chr6:30712600-30719400	Weak transcription	Psoas Muscle	Psoas
13	chr6:30712600-30719600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:30712600-30719600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:30712600-30724000	Enhancers	HMEC	breast
16	chr6:30712800-30716400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:30712800-30716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:30712800-30716400	Weak transcription	Fetal Lung	lung
19	chr6:30712800-30716600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:30712800-30716600	Weak transcription	Liver	Liver
21	chr6:30712800-30716600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:30712800-30717600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:30712800-30718400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:30712800-30719400	Weak transcription	Right Ventricle	heart
25	chr6:30712800-30720000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:30713000-30715800	Weak transcription	Right Atrium	heart
27	chr6:30713000-30716000	Enhancers	A549	lung
28	chr6:30713000-30717600	Weak transcription	Adipose Nuclei	Adipose
29	chr6:30713000-30719400	Weak transcription	Fetal Stomach	stomach
30	chr6:30713200-30715800	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:30713200-30716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:30713200-30716000	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:30713200-30716600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:30713200-30716600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:30713200-30716600	Enhancers	Hela-S3	cervix
36	chr6:30713200-30716800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:30713200-30719200	Weak transcription	Fetal Heart	heart
38	chr6:30713200-30719200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:30713400-30716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:30713400-30716400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:30713400-30716600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:30713400-30717200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:30714200-30721200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:30714400-30716200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:30714400-30718600	Enhancers	Pancreas	Pancrea
46	chr6:30714600-30716000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:30714600-30716400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:30714600-30717200	Enhancers	Placenta	Placenta
49	chr6:30714800-30719600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:30715000-30717200	Enhancers	NHLF	lung

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