Variant report

Variant	nsv601492
Chromosome Location	chr6:31188654-31204008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr6:31193764-31194173	GM12878	blood:	n/a	n/a
2	BCL3	chr6:31193853-31194184	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:31203235-31203266	IMR90	lung:	n/a	n/a
4	CTCF	chr6:31198260-31198410	HEK293	kidney:	n/a	n/a
5	CTCF	chr6:31197919-31197992	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr6:31190360-31190510	GM06990	blood:	n/a	n/a
7	E2F6	chr6:31192791-31193210	H1-hESC	embryonic stem cell:	n/a	chr6:31192992-31193004
8	E2F6	chr6:31192506-31193237	H1-hESC	embryonic stem cell:	n/a	chr6:31192992-31193004
9	EBF1	chr6:31190369-31190609	GM12878	blood:	n/a	chr6:31190508-31190519
10	EBF1	chr6:31190335-31190663	GM12878	blood:	n/a	chr6:31190508-31190519
11	FOXA1	chr6:31193515-31193926	T-47D	breast:	n/a	n/a
12	FOXA1	chr6:31193504-31193822	T-47D	breast:	n/a	n/a
13	FOXA2	chr6:31193586-31193779	HepG2	liver:	n/a	n/a
14	GATA3	chr6:31193679-31194224	MCF-7	breast:	n/a	n/a
15	GATA3	chr6:31193513-31194205	T-47D	breast:	n/a	n/a
16	GATA3	chr6:31200137-31200482	MCF-7	breast:	n/a	n/a
17	GATA3	chr6:31193518-31194205	T-47D	breast:	n/a	n/a
18	HDAC2	chr6:31197840-31198000	K562	blood:	n/a	n/a
19	MYC	chr6:31192180-31192210	HUVEC	blood vessel:	n/a	n/a
20	NFATC1	chr6:31193737-31194175	GM12878	blood:	n/a	n/a
21	PBX3	chr6:31193861-31194105	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:31192262-31192397	K562	blood:	n/a	n/a
23	POLR2A	chr6:31192077-31192456	GM12892	blood:	n/a	n/a
24	POLR2A	chr6:31192263-31192296	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:31192110-31192315	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:31192106-31192351	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:31192054-31192468	GM12892	blood:	n/a	n/a
28	POLR2A	chr6:31192123-31192392	ProgFib	skin:	n/a	n/a
29	POLR2A	chr6:31192128-31192317	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:31192273-31192547	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:31192059-31192456	GM12878	blood:	n/a	n/a
32	RCOR1	chr6:31197849-31197881	K562	blood:	n/a	n/a
33	RELA	chr6:31190305-31190628	GM19099	blood:	n/a	chr6:31190467-31190476 chr6:31190467-31190476
34	SIN3AK20	chr6:31199959-31200063	HepG2	liver:	n/a	n/a
35	SPI1	chr6:31197028-31197357	HL-60	blood:	n/a	chr6:31197139-31197152
36	SPI1	chr6:31197034-31197350	HL-60	blood:	n/a	chr6:31197139-31197152
37	TAL1	chr6:31197758-31197986	K562	blood:	n/a	n/a
38	ZNF217	chr6:31200219-31200471	MCF-7	breast:	n/a	n/a
39	ZNF384	chr6:31197682-31197968	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31187490..31190169-chr6:31217260..31219687,2	K562	blood:
2	chr6:31190078..31192585-chr6:31195743..31198639,3	K562	blood:
3	chr6:31195002..31197168-chr6:31331435..31333390,2	K562	blood:
4	chr6:31190775..31192642-chr6:31491584..31493924,2	K562	blood:
5	chr6:31190770..31192305-chr6:31497957..31500169,2	K562	blood:
6	chr6:31169209..31171865-chr6:31193364..31195422,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCF19-1	chr6:31196383-31196425	XLOC_005244

No data

Variant related genes	Relation type
ENSG00000255899	TF binding region
ENSG00000255726	TF binding region
ENSG00000271821	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000255726	chromatin interactions
ENSG00000198563	chromatin interactions

Extended variants
information (count: 675 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28360997	chr6:31188654-31188655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527397553	chr6:31188701-31188702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548748626	chr6:31188702-31188703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115320563	chr6:31188708-31188709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531503366	chr6:31188738-31188739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571458595	chr6:31188749-31188750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538997426	chr6:31188775-31188776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566163067	chr6:31188808-31188809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182145325	chr6:31188842-31188843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548141873	chr6:31188878-31188879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186447903	chr6:31188884-31188885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376638514	chr6:31188889-31188890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191940708	chr6:31188908-31188909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115057643	chr6:31188995-31188996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59462755	chr6:31189017-31189018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528006097	chr6:31189057-31189058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146524910	chr6:31189095-31189096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531869581	chr6:31189098-31189099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569564467	chr6:31189202-31189203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113774306	chr6:31189231-31189232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531492117	chr6:31189267-31189268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58802690	chr6:31189313-31189314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551857909	chr6:31189324-31189325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183899397	chr6:31189333-31189334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188392157	chr6:31189377-31189378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566128378	chr6:31189418-31189419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371292855	chr6:31189441-31189442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145021772	chr6:31189460-31189461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs564523040	chr6:31189503-31189504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112673890	chr6:31189515-31189516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28361001	chr6:31189521-31189522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376166930	chr6:31189525-31189526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376262339	chr6:31189531-31189532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72863830	chr6:31189541-31189542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541351119	chr6:31189624-31189625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553348192	chr6:31189666-31189667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571747801	chr6:31189699-31189700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148955857	chr6:31189760-31189761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193057316	chr6:31189768-31189769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543588158	chr6:31189853-31189854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143694757	chr6:31189856-31189857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182735823	chr6:31189870-31189871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565371316	chr6:31189940-31189941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3130950	chr6:31189952-31189953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs9263982	chr6:31189985-31189986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548315416	chr6:31190019-31190020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373534064	chr6:31190030-31190031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373966294	chr6:31190036-31190037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59847960	chr6:31190108-31190109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373675483	chr6:31190116-31190117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31179200-31195000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:31183200-31192600	Weak transcription	Spleen	Spleen
3	chr6:31187200-31188800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:31187200-31189800	Weak transcription	GM12878-XiMat	blood
5	chr6:31188800-31189000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:31188800-31190000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:31189000-31196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:31189800-31191000	Enhancers	GM12878-XiMat	blood
9	chr6:31190000-31192800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:31190400-31190600	Weak transcription	Right Atrium	heart
11	chr6:31190400-31191000	Enhancers	Fetal Lung	lung
12	chr6:31190400-31191600	Enhancers	Fetal Stomach	stomach
13	chr6:31190600-31190800	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr6:31190600-31190800	Enhancers	Left Ventricle	heart
15	chr6:31190600-31190800	Enhancers	Right Atrium	heart
16	chr6:31190600-31191000	Enhancers	Lung	lung
17	chr6:31190800-31191000	Enhancers	Colonic Mucosa	Colon
18	chr6:31190800-31191200	Bivalent Enhancer	Placenta	Placenta
19	chr6:31190800-31197600	Weak transcription	Right Atrium	heart
20	chr6:31191000-31193000	Weak transcription	Colonic Mucosa	Colon
21	chr6:31192400-31193200	Enhancers	Pancreas	Pancrea
22	chr6:31192600-31192800	Enhancers	Spleen	Spleen
23	chr6:31192800-31193000	Enhancers	Placenta	Placenta
24	chr6:31192800-31193200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:31193000-31193200	Enhancers	Colonic Mucosa	Colon
29	chr6:31193000-31193400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:31193200-31196400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:31193200-31196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:31193200-31196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:31193200-31196600	Weak transcription	Colonic Mucosa	Colon
34	chr6:31193200-31201600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:31193400-31193800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:31193800-31194000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:31194000-31196400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:31194800-31195000	Weak transcription	Left Ventricle	heart
39	chr6:31195000-31195200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:31195000-31195200	Enhancers	Left Ventricle	heart
41	chr6:31195000-31195200	Enhancers	Right Ventricle	heart
42	chr6:31195200-31195400	Enhancers	Fetal Lung	lung
43	chr6:31195200-31195400	Bivalent Enhancer	K562	blood
44	chr6:31195200-31196200	Weak transcription	Left Ventricle	heart
45	chr6:31195400-31196400	Weak transcription	Right Ventricle	heart
46	chr6:31196200-31196800	Enhancers	Left Ventricle	heart
47	chr6:31196400-31196600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:31196400-31196800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:31196400-31196800	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:31196400-31196800	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links