Variant report

Variant	nsv611845
Chromosome Location	chr8:107689295-107698966
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:13)
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	BACH1	chr8:107690105-107690122	K562	blood:	n/a	n/a
2	CTCF	chr8:107695205-107695224	K562	blood:	n/a	n/a
3	EBF1	chr8:107697471-107697585	GM12878	blood:	n/a	chr8:107697479-107697488 chr8:107697477-107697490
4	POLR2A	chr8:107694154-107694252	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:107697406-107697784	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:107692936-107692988	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:107693936-107693941	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:107693814-107693829	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:107696130-107696152	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:107692896-107693270	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:107689191-107689334	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:107698339-107698479	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:107696526-107696575	ProgFib	skin:	n/a	n/a
14	POLR2A	chr8:107695324-107695332	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr8:107693830-107693852	MCF-7	breast:	n/a	n/a
16	POLR2A	chr8:107696507-107696508	ProgFib	skin:	n/a	n/a
17	SPI1	chr8:107691103-107691410	HL-60	blood:	n/a	chr8:107691271-107691284
18	SPI1	chr8:107691076-107691517	HL-60	blood:	n/a	chr8:107691271-107691284
19	SPI1	chr8:107691172-107691345	GM12891	blood:	n/a	chr8:107691271-107691284
20	STAT3	chr8:107693236-107693388	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr8:107698530-107698776	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr8:107696035-107696098	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr8:107692419-107692682	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107677870..107679876-chr8:107686793..107689768,2	MCF-7	breast:
2	chr8:107670007..107671645-chr8:107694032..107695827,2	K562	blood:
3	chr8:107670031..107671733-chr8:107690741..107693246,2	MCF-7	breast:
4	chr8:107668570..107671221-chr8:107695666..107698146,4	MCF-7	breast:
5	chr8:107691041..107693905-chr8:107694052..107695605,2	K562	blood:
6	chr8:107682179..107684259-chr8:107690430..107692278,2	MCF-7	breast:
7	chr8:107690055..107691912-chr8:107693867..107696317,2	MCF-7	breast:
8	chr8:107670067..107672090-chr8:107697639..107700027,2	MCF-7	breast:
9	chr8:107691238..107693332-chr8:107727540..107729802,2	K562	blood:
10	chr8:107667927..107672716-chr8:107687873..107691651,4	MCF-7	breast:
11	chr8:107698676..107702176-chr8:107703228..107705586,3	K562	blood:
12	chr8:107675484..107677313-chr8:107687976..107690913,2	K562	blood:
13	chr8:107697168..107698852-chr8:107737587..107739721,2	K562	blood:

No data

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000253582	chromatin interactions
ENSG00000164830	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16875004	chr8:107689295-107689296	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573277103	chr8:107689307-107689308	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535231604	chr8:107689320-107689321	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201740862	chr8:107689411-107689412	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374805767	chr8:107689412-107689413	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11268819	chr8:107689413-107689414	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368911833	chr8:107689415-107689416	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs61564192	chr8:107689418-107689419	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs67923620	chr8:107689419-107689420	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553148436	chr8:107689435-107689436	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148107468	chr8:107689459-107689460	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs59118771	chr8:107689460-107689461	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138864920	chr8:107689480-107689481	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545055436	chr8:107689498-107689499	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557361824	chr8:107689513-107689514	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192657283	chr8:107689528-107689529	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369626676	chr8:107689555-107689556	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28924369	chr8:107689698-107689699	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576146091	chr8:107689727-107689728	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535563232	chr8:107689748-107689749	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577139015	chr8:107689762-107689763	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528231312	chr8:107689818-107689819	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540076951	chr8:107689851-107689852	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150143327	chr8:107689859-107689860	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532260277	chr8:107689865-107689866	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550289781	chr8:107689931-107689932	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562468717	chr8:107689953-107689954	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555493669	chr8:107689973-107689974	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28921392	chr8:107689983-107689984	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144996062	chr8:107689989-107689990	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs72682851	chr8:107689990-107689991	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376594965	chr8:107690122-107690123	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs535229687	chr8:107690157-107690158	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547202791	chr8:107690158-107690159	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571635916	chr8:107690236-107690237	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28921393	chr8:107690246-107690247	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557198190	chr8:107690280-107690281	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575194502	chr8:107690307-107690308	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564783843	chr8:107690320-107690321	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs536256580	chr8:107690361-107690362	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1681885	chr8:107690452-107690453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572848594	chr8:107690475-107690476	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs3101535	chr8:107690492-107690493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540016983	chr8:107690494-107690495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545952044	chr8:107690502-107690503	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559502781	chr8:107690620-107690621	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181818711	chr8:107690649-107690650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544265402	chr8:107690745-107690746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186126103	chr8:107690787-107690788	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560577286	chr8:107690792-107690793	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107671200-107697200	Weak transcription	HSMM	muscle
2	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
3	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
6	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
8	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
9	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
11	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
12	chr8:107681600-107696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:107682200-107696600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:107683600-107692800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
16	chr8:107686000-107697000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:107686000-107709200	Weak transcription	Gastric	stomach
18	chr8:107686200-107709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:107686400-107690000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:107686400-107691200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:107686400-107695200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:107686400-107695800	Weak transcription	Adipose Nuclei	Adipose
23	chr8:107686400-107696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:107686400-107697400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:107686400-107709000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:107686400-107709000	Weak transcription	Esophagus	oesophagus
27	chr8:107686400-107709000	Weak transcription	Spleen	Spleen
28	chr8:107686600-107696000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:107686600-107696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:107686600-107697400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:107686600-107709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:107686600-107709000	Weak transcription	Fetal Stomach	stomach
33	chr8:107686600-107711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:107686800-107696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:107687000-107696000	Weak transcription	Primary T cells from cord blood	blood
36	chr8:107687000-107696400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:107687200-107691200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:107687200-107695800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:107687200-107696000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:107687200-107697400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:107687200-107697400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:107687200-107707600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:107687200-107709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:107687600-107692600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:107687800-107692800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:107687800-107696400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:107688000-107713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:107688400-107689400	Enhancers	Liver	Liver
49	chr8:107688600-107709200	Weak transcription	Aorta	Aorta
50	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach

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