Variant report

Variant	esv18370
Chromosome Location	chr4:7971253-7974932
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7943385..7945490-chr4:7973996..7976275,2	MCF-7	breast:
2	chr4:7972328..7974698-chr4:7988025..7989740,2	MCF-7	breast:
3	chr4:7974598..7977296-chr4:7995967..7999387,3	MCF-7	breast:
4	chr4:7940228..7942732-chr4:7972694..7975678,3	MCF-7	breast:
5	chr4:7938506..7945813-chr4:7968503..7977501,21	MCF-7	breast:
6	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
7	chr4:7965044..7967214-chr4:7970387..7972613,2	MCF-7	breast:
8	chr20:30192785..30193307-chr4:7971401..7972325,2	Hela-S3	cervix:
9	chr4:7968293..7969808-chr4:7972289..7974865,2	MCF-7	breast:
10	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
11	chr4:7941236..7944392-chr4:7970174..7972613,4	MCF-7	breast:
12	chr4:7966853..7969531-chr4:7971692..7973616,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228919	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000196526	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs13134821	chr4:7971303-7971304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370807251	chr4:7971304-7971305	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs13152312	chr4:7971312-7971313	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13106165	chr4:7971316-7971317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552926630	chr4:7971353-7971354	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566001182	chr4:7971422-7971423	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201799958	chr4:7971458-7971459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs56236019	chr4:7971491-7971492	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs61565301	chr4:7971493-7971494	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs60311683	chr4:7971496-7971497	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs370825172	chr4:7971498-7971499	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574692169	chr4:7971534-7971535	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369678896	chr4:7971551-7971552	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539824350	chr4:7971556-7971557	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs184193286	chr4:7971645-7971646	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs188726503	chr4:7971685-7971686	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs192802954	chr4:7971709-7971710	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs182579340	chr4:7971713-7971714	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs377679568	chr4:7971733-7971734	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs115699126	chr4:7971770-7971771	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549927448	chr4:7971787-7971788	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs143317415	chr4:7971788-7971789	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs373414318	chr4:7971811-7971812	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs562109311	chr4:7971819-7971820	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574727789	chr4:7971821-7971822	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs529569350	chr4:7971825-7971826	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs555732888	chr4:7971834-7971835	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs186628476	chr4:7971853-7971854	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569181690	chr4:7971865-7971866	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs539649116	chr4:7971869-7971870	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs79514341	chr4:7971917-7971918	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138969797	chr4:7971925-7971926	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375600428	chr4:7971926-7971927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs534714621	chr4:7971927-7971928	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs552723343	chr4:7971939-7971940	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs574360745	chr4:7971954-7971955	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs535404775	chr4:7971962-7971963	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs557312422	chr4:7971966-7971967	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs575561008	chr4:7971969-7971970	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs546027763	chr4:7972035-7972036	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs141628535	chr4:7972053-7972054	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527323610	chr4:7972059-7972060	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs368879670	chr4:7972076-7972077	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573302683	chr4:7972080-7972081	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540699334	chr4:7972111-7972112	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs191833163	chr4:7972134-7972135	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs529272012	chr4:7972173-7972174	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs544154262	chr4:7972192-7972193	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs562852300	chr4:7972222-7972223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533436970	chr4:7972228-7972229	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7959400-7971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:7963000-7971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:7963200-7971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:7963200-7971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7963400-7975400	Weak transcription	Aorta	Aorta
6	chr4:7964400-7971600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr4:7966000-7971600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
9	chr4:7968200-7972000	Enhancers	Fetal Intestine Large	intestine
10	chr4:7968600-7972000	Enhancers	Spleen	Spleen
11	chr4:7969000-7971600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr4:7969000-7972000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:7969000-7975600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:7969200-7971600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:7969200-7972000	Enhancers	Stomach Mucosa	stomach
16	chr4:7969200-7972400	Enhancers	Colon Smooth Muscle	Colon
17	chr4:7969200-7973400	Enhancers	Right Ventricle	heart
18	chr4:7969200-7974400	Enhancers	Fetal Muscle Leg	muscle
19	chr4:7969200-7975600	Enhancers	Fetal Thymus	thymus
20	chr4:7969200-7975800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7969400-7971600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:7969400-7971600	Enhancers	Hela-S3	cervix
23	chr4:7969400-7971800	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:7969400-7972000	Enhancers	Placenta	Placenta
25	chr4:7969400-7972000	Enhancers	Fetal Stomach	stomach
26	chr4:7969400-7972400	Enhancers	Fetal Muscle Trunk	muscle
27	chr4:7969400-7972400	Enhancers	NHDF-Ad	bronchial
28	chr4:7969400-7972600	Enhancers	Left Ventricle	heart
29	chr4:7969400-7972800	Enhancers	Right Atrium	heart
30	chr4:7969400-7973200	Enhancers	NHLF	lung
31	chr4:7969400-7974800	Enhancers	Lung	lung
32	chr4:7969400-7975800	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:7969400-7976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:7969600-7971400	Weak transcription	Pancreas	Pancrea
35	chr4:7969600-7971400	Enhancers	HepG2	liver
36	chr4:7969600-7971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:7969600-7971600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:7969600-7971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:7969600-7971800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:7969600-7972000	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:7969600-7975800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:7969800-7971400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr4:7969800-7971600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:7969800-7971600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:7969800-7972000	Enhancers	Fetal Intestine Small	intestine
46	chr4:7969800-7972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:7969800-7973600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7970000-7971600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:7970000-7971600	Weak transcription	HSMMtube	muscle
50	chr4:7970000-7971800	Weak transcription	Esophagus	oesophagus

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