Variant report

Variant	esv2762724
Chromosome Location	chr8:8578794-8630642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8579801..8581466-chr8:8590103..8593043,2	MCF-7	breast:
2	chr8:8630359..8632288-chr8:8847032..8849956,2	MCF-7	breast:
3	chr8:8608326..8608981-chr8:9195964..9196742,2	MCF-7	breast:
4	chr8:8617914..8619415-chr8:8620497..8623459,2	K562	blood:
5	chr8:8599224..8601341-chr8:8748933..8751645,2	MCF-7	breast:
6	chr8:8608085..8608900-chr8:8846417..8847265,2	MCF-7	breast:
7	chr8:8607912..8608860-chr8:8887402..8888108,2	K562	blood:
8	chr8:8607817..8608748-chr8:9007897..9008818,2	MCF-7	breast:
9	chr8:8527797..8529806-chr8:8592444..8595839,3	MCF-7	breast:
10	chr8:8527493..8529178-chr8:8594079..8595134,11	MCF-7	breast:
11	chr8:8527839..8528754-chr8:8592246..8592999,2	K562	blood:
12	chr8:8622225..8624957-chr8:8625009..8627132,2	MCF-7	breast:
13	chr8:8607965..8608861-chr8:8846540..8847483,5	K562	blood:
14	chr8:8607923..8608592-chr8:9007837..9008750,3	K562	blood:
15	chr8:8622225..8624957-chr8:8625009..8627132,2	MCF-7	breast:
16	chr8:8579801..8581466-chr8:8590103..8593043,2	MCF-7	breast:
17	chr8:8527332..8529283-chr8:8594084..8595110,9	K562	blood:
18	chr8:8617914..8619415-chr8:8620497..8623459,2	K562	blood:
19	chr8:8608069..8609942-chr8:8861282..8862933,2	MCF-7	breast:
20	chr8:8538997..8539534-chr8:8594174..8595039,2	MCF-7	breast:
21	chr8:8242378..8243902-chr8:8594357..8596139,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFHAS1-1	chr8:8611510-8611618	ENSG00000254367
2	lnc-MFHAS1-1	chr8:8581203-8581244	ENSG00000254367
3	lnc-MFHAS1-1	chr8:8614686-8614826	ENSG00000254367

No data

Variant related genes	Relation type
ENSG00000147324	chromatin interactions
ENSG00000173281	chromatin interactions

Extended variants
information (count: 2500 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:2500 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572366	chr8:8578794-8578795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552628050	chr8:8578801-8578802	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs572307	chr8:8578811-8578812	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs376783714	chr8:8578840-8578841	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373704095	chr8:8578868-8578869	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs567577193	chr8:8578880-8578881	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs561472997	chr8:8578892-8578893	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs114098080	chr8:8578897-8578898	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546499774	chr8:8578919-8578920	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566643608	chr8:8578925-8578926	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs190278394	chr8:8578939-8578940	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs530333209	chr8:8579010-8579011	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs550023091	chr8:8579035-8579036	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs182101146	chr8:8579067-8579068	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs558615088	chr8:8579096-8579097	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs574946445	chr8:8579099-8579100	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537456219	chr8:8579135-8579136	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs554108373	chr8:8579170-8579171	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs574812496	chr8:8579245-8579246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540896625	chr8:8579251-8579252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560558948	chr8:8579285-8579286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186768769	chr8:8579299-8579300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549523837	chr8:8579308-8579309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546029544	chr8:8579320-8579321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149855709	chr8:8579321-8579322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531799315	chr8:8579343-8579344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369654060	chr8:8579368-8579369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147948719	chr8:8579394-8579395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552286097	chr8:8579406-8579407	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs73511834	chr8:8579407-8579408	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546863026	chr8:8579440-8579441	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs566596366	chr8:8579443-8579444	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs538829011	chr8:8579463-8579464	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs141832424	chr8:8579469-8579470	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs569252998	chr8:8579470-8579471	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs568626206	chr8:8579475-8579476	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs189998562	chr8:8579482-8579483	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs183800477	chr8:8579485-8579486	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs566154054	chr8:8579496-8579497	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs574081783	chr8:8579499-8579500	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs534754064	chr8:8579532-8579533	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs534267793	chr8:8579557-8579558	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs554446118	chr8:8579560-8579561	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs577418940	chr8:8579563-8579564	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs145588301	chr8:8579582-8579583	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs79664634	chr8:8579597-8579598	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs576631901	chr8:8579606-8579607	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542321854	chr8:8579627-8579628	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs505710	chr8:8579641-8579642	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs527680231	chr8:8579691-8579692	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8578200-8580200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:8578400-8579200	Enhancers	GM12878-XiMat	blood
3	chr8:8578400-8580000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:8578600-8580000	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:8578800-8579000	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr8:8578800-8579200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:8579200-8579400	Weak transcription	GM12878-XiMat	blood
8	chr8:8579400-8579600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:8579600-8580400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr8:8580000-8580600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
11	chr8:8580000-8581400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr8:8580200-8580400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr8:8580200-8580400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:8580200-8580400	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr8:8580200-8580600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:8580200-8581000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr8:8580200-8581200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:8580200-8581400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:8580200-8581400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:8580200-8581600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:8580200-8581600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr8:8580400-8580600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr8:8580400-8580600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:8580400-8580600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:8580400-8580600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:8580400-8580600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr8:8580400-8580600	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
31	chr8:8580400-8580800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr8:8580400-8580800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr8:8580400-8580800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr8:8580400-8581000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr8:8580400-8581000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr8:8580400-8581000	Enhancers	Spleen	Spleen
37	chr8:8580400-8581200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:8580400-8581400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr8:8580400-8581400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:8580400-8581400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:8580600-8580800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:8580600-8580800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:8580600-8580800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:8580600-8580800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:8580600-8580800	Bivalent Enhancer	Adipose Nuclei	Adipose
46	chr8:8580600-8580800	Enhancers	Liver	Liver
47	chr8:8580600-8580800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr8:8580600-8580800	Bivalent Enhancer	Fetal Brain Female	brain
49	chr8:8580600-8580800	Enhancers	Pancreas	Pancrea
50	chr8:8580600-8580800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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