Variant report

Variant	esv3356908
Chromosome Location	chr6:31088323-31089571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:306)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:31087903-31088722	MCF-7	breast:	n/a	chr6:31088353-31088366
2	GATA3	chr6:31088352-31088552	MCF-7	breast:	n/a	chr6:31088353-31088366
3	HDAC2	chr6:31088110-31088575	MCF-7	breast:	n/a	n/a
4	MYC	chr6:31088134-31088535	MCF-7	breast:	n/a	chr6:31088419-31088428
5	MYC	chr6:31088483-31088485	MCF-7	breast:	n/a	n/a
6	MYC	chr6:31088225-31088481	MCF-7	breast:	n/a	chr6:31088419-31088428
7	POLR2A	chr6:31087974-31088630	MCF-7	breast:	n/a	n/a
8	POLR2A	chr6:31088059-31088516	MCF-7	breast:	n/a	n/a
9	POLR2A	chr6:31089070-31089284	MCF10A-Er-Src	breast:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31088352-31088402	T-47D	breast:	n/a
2	chr6:31088352-31088402	T-47D	breast:	n/a
3	chr6:31088434-31088484	PrEC	prostate:	n/a
4	chr6:31088343-31088393	SAEC	small airway:	n/a
5	chr6:31088343-31088393	BJ	skin:	n/a
6	chr6:31089293-31089343	RPTEC	kidney:	n/a
7	chr6:31089157-31089207	HRE	kidney:	n/a
8	chr6:31089157-31089207	SK-N-SH_RA	brain:	n/a
9	chr6:31088352-31088402	Jurkat	blood:	n/a
10	chr6:31088352-31088402	AG04449	skin:	fetal
11	chr6:31089293-31089343	HRCEpiC	kidney:	n/a
12	chr6:31088352-31088402	NT2-D1	testis:	n/a
13	chr6:31088343-31088393	Jurkat	blood:	n/a
14	chr6:31089157-31089207	RPTEC	kidney:	n/a
15	chr6:31089293-31089343	T-47D	breast:	n/a
16	chr6:31088352-31088402	SKMC	muscle:	n/a
17	chr6:31088352-31088402	HCF	heart:	n/a
18	chr6:31089293-31089343	A549	lung:	n/a
19	chr6:31088352-31088402	HAEpiC	amniotic membrane:	n/a
20	chr6:31088352-31088402	SK-N-MC	brain:	n/a
21	chr6:31088343-31088393	K562	blood:	n/a
22	chr6:31088343-31088393	AG10803	skin:	n/a
23	chr6:31088352-31088402	NHDF-neo	bronchial:	n/a
24	chr6:31088434-31088484	T-47D	breast:	n/a
25	chr6:31088352-31088402	A549	lung:	n/a
26	chr6:31088352-31088402	Caco-2	colon:	n/a
27	chr6:31089293-31089343	AG04449	skin:	fetal
28	chr6:31089157-31089207	HCM	heart:	n/a
29	chr6:31088434-31088484	HCM	heart:	n/a
30	chr6:31088352-31088402	ProgFib	skin:	n/a
31	chr6:31088434-31088484	PFSK-1	brain:	n/a
32	chr6:31088434-31088484	H1-hESC	embryonic stem cell:	embryo
33	chr6:31088434-31088484	AG04450	lung:	fetal
34	chr6:31088434-31088484	ProgFib	skin:	n/a
35	chr6:31088434-31088484	Caco-2	colon:	n/a
36	chr6:31088352-31088402	HCT-116	colon:	n/a
37	chr6:31088434-31088484	SK-N-SH_RA	brain:	n/a
38	chr6:31088352-31088402	GM06990	blood:	n/a
39	chr6:31089157-31089207	HUVEC	blood vessel:	n/a
40	chr6:31088343-31088393	NHBE	bronchial:	n/a
41	chr6:31089293-31089343	NHBE	bronchial:	n/a
42	chr6:31089157-31089207	HAEpiC	amniotic membrane:	n/a
43	chr6:31088343-31088393	AG09309	skin:	n/a
44	chr6:31089293-31089343	CMK	blood:	n/a
45	chr6:31088343-31088393	IMR90	lung:	fetal
46	chr6:31088434-31088484	NHDF-neo	bronchial:	n/a
47	chr6:31088352-31088402	HMEC	breast:	n/a
48	chr6:31088434-31088484	Hepatocyte	liver:	n/a
49	chr6:31089293-31089343	LNCaP	prostate:	n/a
50	chr6:31088352-31088402	HCPEpiC	choroid plexus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31088553..31090174-chr6:31161493..31163049,2	K562	blood:
2	chr6:31082053..31084455-chr6:31089530..31091861,4	MCF-7	breast:
3	chr6:31080693..31083957-chr6:31087484..31089976,3	K562	blood:
4	chr6:31079457..31085209-chr6:31085850..31092700,13	MCF-7	breast:

No data

Variant related genes	Relation type
CDSN	TF binding region
CDSN	CpG island
ENSG00000204542	chromatin interactions
ENSG00000204540	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386564365	chr6:31088325-31088326	Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs186630661	chr6:31088423-31088424	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567699625	chr6:31088434-31088435	Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573633731	chr6:31088492-31088493	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369172404	chr6:31088499-31088500	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs544236343	chr6:31088505-31088506	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540151006	chr6:31088579-31088580	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs118054930	chr6:31088612-31088613	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs551218544	chr6:31088656-31088657	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs558149109	chr6:31088671-31088672	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527527364	chr6:31088682-31088683	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548816903	chr6:31088823-31088824	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567230255	chr6:31088834-31088835	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537810743	chr6:31088835-31088836	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550170519	chr6:31088852-31088853	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573422310	chr6:31088856-31088857	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539105969	chr6:31088898-31088899	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115924418	chr6:31088944-31088945	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143856169	chr6:31088950-31088951	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573798277	chr6:31089037-31089038	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143246031	chr6:31089058-31089059	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374846853	chr6:31089067-31089068	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553317370	chr6:31089125-31089126	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs562485121	chr6:31089157-31089158	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs386496332	chr6:31089204-31089205	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs545082189	chr6:31089213-31089214	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs146736651	chr6:31089257-31089258	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs72858945	chr6:31089317-31089318	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551694633	chr6:31089388-31089389	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2239522	chr6:31089389-31089390	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531480513	chr6:31089403-31089404	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368140223	chr6:31089412-31089413	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369167314	chr6:31089417-31089418	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190886587	chr6:31089447-31089448	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571605582	chr6:31089465-31089466	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375383421	chr6:31089497-31089498	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548774566	chr6:31089507-31089508	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371322918	chr6:31089540-31089541	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs143614596	chr6:31089562-31089563	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31082600-31092800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:31082800-31093000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:31083200-31092800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:31083200-31094200	Weak transcription	Aorta	Aorta
5	chr6:31083200-31105400	Weak transcription	Spleen	Spleen
6	chr6:31083400-31090000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:31083400-31093400	Weak transcription	HSMMtube	muscle
8	chr6:31083600-31091000	Weak transcription	A549	lung
9	chr6:31083600-31092600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:31083800-31089600	Weak transcription	HUVEC	blood vessel
11	chr6:31083800-31090000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:31083800-31090200	Weak transcription	HSMM	muscle
13	chr6:31083800-31093600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:31084400-31089200	Weak transcription	Gastric	stomach
15	chr6:31085200-31090000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:31085400-31090000	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:31085400-31090000	Weak transcription	Right Ventricle	heart
18	chr6:31085400-31090000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:31085400-31090200	Weak transcription	Esophagus	oesophagus
20	chr6:31085400-31090200	Weak transcription	Left Ventricle	heart
21	chr6:31085400-31090200	Weak transcription	Ovary	ovary
22	chr6:31085400-31090600	Weak transcription	Brain Substantia Nigra	brain
23	chr6:31085400-31090600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:31085400-31090600	Weak transcription	Pancreas	Pancrea
25	chr6:31085400-31090600	Weak transcription	Stomach Mucosa	stomach
26	chr6:31085600-31090600	Weak transcription	Right Atrium	heart
27	chr6:31085600-31093200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:31086400-31089800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:31087800-31089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:31088000-31088400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:31088000-31088400	Enhancers	NHEK	skin
32	chr6:31088000-31088600	Enhancers	Lung	lung
33	chr6:31088000-31094200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:31088000-31094800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:31088000-31095000	Enhancers	HMEC	breast
36	chr6:31088200-31088600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:31088200-31088600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:31088200-31095000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:31088400-31089000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:31088400-31089600	Weak transcription	NHEK	skin
41	chr6:31088600-31089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:31088600-31089000	Weak transcription	Lung	lung
43	chr6:31088600-31089200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:31089000-31089200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:31089000-31089400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:31089000-31089600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:31089000-31091400	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:31089000-31096200	Enhancers	Lung	lung
49	chr6:31089200-31089400	Enhancers	Gastric	stomach
50	chr6:31089200-31089600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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