Variant report

Variant	esv3474472
Chromosome Location	chr6:31191573-31196171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 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	E2F6	chr6:31192506-31193237	H1-hESC	embryonic stem cell:	n/a	chr6:31192992-31193004
4	E2F6	chr6:31192791-31193210	H1-hESC	embryonic stem cell:	n/a	chr6:31192992-31193004
5	FOXA1	chr6:31193504-31193822	T-47D	breast:	n/a	n/a
6	FOXA1	chr6:31193515-31193926	T-47D	breast:	n/a	n/a
7	FOXA2	chr6:31193586-31193779	HepG2	liver:	n/a	n/a
8	GATA3	chr6:31193518-31194205	T-47D	breast:	n/a	n/a
9	GATA3	chr6:31193679-31194224	MCF-7	breast:	n/a	n/a
10	GATA3	chr6:31193513-31194205	T-47D	breast:	n/a	n/a
11	MYC	chr6:31192180-31192210	HUVEC	blood vessel:	n/a	n/a
12	NFATC1	chr6:31193737-31194175	GM12878	blood:	n/a	n/a
13	PBX3	chr6:31193861-31194105	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:31192262-31192397	K562	blood:	n/a	n/a
15	POLR2A	chr6:31192123-31192392	ProgFib	skin:	n/a	n/a
16	POLR2A	chr6:31192263-31192296	MCF-7	breast:	n/a	n/a
17	POLR2A	chr6:31192054-31192468	GM12892	blood:	n/a	n/a
18	POLR2A	chr6:31192106-31192351	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:31192273-31192547	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:31192059-31192456	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:31192128-31192317	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:31192110-31192315	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:31192077-31192456	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 199 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs117321340	chr6:31191633-31191634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1639110	chr6:31191636-31191637	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs567836009	chr6:31191642-31191643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9281267	chr6:31191657-31191658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150398191	chr6:31191671-31191672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193105366	chr6:31191691-31191692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3130518	chr6:31191709-31191710	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs149162659	chr6:31191744-31191745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146782361	chr6:31191785-31191786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546674956	chr6:31191852-31191853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3130949	chr6:31191867-31191868	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs535265851	chr6:31191905-31191906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557133709	chr6:31191919-31191920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575427955	chr6:31191929-31191930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117322540	chr6:31191932-31191933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9501525	chr6:31191978-31191979	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531187013	chr6:31192012-31192013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572861286	chr6:31192033-31192034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540238715	chr6:31192053-31192054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562016224	chr6:31192057-31192058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200854305	chr6:31192058-31192059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150285531	chr6:31192063-31192064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552905490	chr6:31192064-31192065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374331827	chr6:31192066-31192067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115878234	chr6:31192110-31192111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563124287	chr6:31192117-31192118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1793895	chr6:31192192-31192193	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550030867	chr6:31192201-31192202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9263990	chr6:31192215-31192216	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145568104	chr6:31192228-31192229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138522297	chr6:31192229-31192230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535967223	chr6:31192236-31192237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528044815	chr6:31192243-31192244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200200901	chr6:31192310-31192311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79925243	chr6:31192336-31192337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202079233	chr6:31192362-31192363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143342069	chr6:31192365-31192366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568027275	chr6:31192371-31192372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114573401	chr6:31192383-31192384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533954276	chr6:31192414-31192415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569074828	chr6:31192455-31192456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147106027	chr6:31192462-31192463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373006059	chr6:31192465-31192466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185499096	chr6:31192493-31192494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9263991	chr6:31192509-31192510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533901880	chr6:31192510-31192511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190070360	chr6:31192520-31192521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200216133	chr6:31192566-31192567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9263992	chr6:31192587-31192588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539827890	chr6:31192644-31192645	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:32 , 50 per page) page: 1

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	chr6:31189000-31196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:31190000-31192800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:31190400-31191600	Enhancers	Fetal Stomach	stomach
6	chr6:31190800-31197600	Weak transcription	Right Atrium	heart
7	chr6:31191000-31193000	Weak transcription	Colonic Mucosa	Colon
8	chr6:31192400-31193200	Enhancers	Pancreas	Pancrea
9	chr6:31192600-31192800	Enhancers	Spleen	Spleen
10	chr6:31192800-31193000	Enhancers	Placenta	Placenta
11	chr6:31192800-31193200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:31193000-31193200	Enhancers	Colonic Mucosa	Colon
16	chr6:31193000-31193400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:31193200-31196400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:31193200-31196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:31193200-31196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:31193200-31196600	Weak transcription	Colonic Mucosa	Colon
21	chr6:31193200-31201600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:31193400-31193800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:31193800-31194000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:31194000-31196400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:31194800-31195000	Weak transcription	Left Ventricle	heart
26	chr6:31195000-31195200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:31195000-31195200	Enhancers	Left Ventricle	heart
28	chr6:31195000-31195200	Enhancers	Right Ventricle	heart
29	chr6:31195200-31195400	Enhancers	Fetal Lung	lung
30	chr6:31195200-31195400	Bivalent Enhancer	K562	blood
31	chr6:31195200-31196200	Weak transcription	Left Ventricle	heart
32	chr6:31195400-31196400	Weak transcription	Right Ventricle	heart

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