Variant report

Variant	nsv596415
Chromosome Location	chr4:187163732-187168563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:187165329-187165708	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:187167786-187168560	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr4:187167865-187168978	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:187164423-187164838	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:187164166-187164972	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:187165144-187167561	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr4:187164273-187164920	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr4:187165142-187170727	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr4:187165837-187166153	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr4:187164416-187164825	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr4:187166443-187166818	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr4:187167906-187168481	H1-hESC	embryonic stem cell:	n/a	n/a
13	GTF2F1	chr4:187164717-187164820	H1-hESC	embryonic stem cell:	n/a	n/a
14	GTF2F1	chr4:187168300-187168832	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr4:187166531-187166723	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr4:187166003-187166239	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr4:187164594-187164779	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr4:187164438-187164559	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr4:187167885-187167987	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:187163597-187163800	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:187164078-187166924	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:187166975-187167587	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:187161444-187169424	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:187161346-187169451	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:187167672-187168774	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:187161509-187168891	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:187161418-187168880	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3A	chr4:187165791-187166256	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3A	chr4:187168185-187168824	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3A	chr4:187167840-187167972	H1-hESC	embryonic stem cell:	n/a	n/a
31	SP1	chr4:187168187-187168845	H1-hESC	embryonic stem cell:	n/a	chr4:187168486-187168497
32	SP1	chr4:187168077-187168512	H1-hESC	embryonic stem cell:	n/a	chr4:187168486-187168497
33	SP4	chr4:187166124-187166420	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP4	chr4:187164341-187164811	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr4:187167168-187167521	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr4:187167758-187168855	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr4:187166439-187166833	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr4:187167791-187168845	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr4:187167097-187167552	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr4:187166454-187166907	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF7	chr4:187164082-187164969	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF7	chr4:187167785-187168501	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF7	chr4:187167162-187167559	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF7	chr4:187167805-187168569	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF7	chr4:187166434-187166770	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF7	chr4:187165094-187167560	H1-hESC	embryonic stem cell:	n/a	n/a
47	TBP	chr4:187166794-187166795	H1-hESC	embryonic stem cell:	n/a	n/a
48	TBP	chr4:187167896-187168949	H1-hESC	embryonic stem cell:	n/a	n/a
49	TBP	chr4:187167350-187167497	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr4:187168463-187168875	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
KLKB1	TF binding region

Extended variants
information (count: 236 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4253275	chr4:187163732-187163733	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188034230	chr4:187163747-187163748	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189746013	chr4:187163817-187163818	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546556613	chr4:187163841-187163842	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4253276	chr4:187163859-187163860	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4253277	chr4:187163881-187163882	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574734628	chr4:187163911-187163912	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182372345	chr4:187163972-187163973	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542245146	chr4:187164009-187164010	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187089885	chr4:187164010-187164011	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555050332	chr4:187164011-187164012	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4253360	chr4:187164023-187164024	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564186543	chr4:187164036-187164037	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531050573	chr4:187164039-187164040	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191944451	chr4:187164057-187164058	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4253278	chr4:187164068-187164069	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4253279	chr4:187164069-187164070	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546376626	chr4:187164072-187164073	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139569090	chr4:187164077-187164078	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61000956	chr4:187164081-187164082	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145610660	chr4:187164087-187164088	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28821522	chr4:187164091-187164092	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28822377	chr4:187164101-187164102	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28881297	chr4:187164105-187164106	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529635906	chr4:187164127-187164128	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533879974	chr4:187164140-187164141	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184447178	chr4:187164148-187164149	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576946858	chr4:187164153-187164154	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539416585	chr4:187164154-187164155	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35650351	chr4:187164177-187164178	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556095520	chr4:187164183-187164184	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576677967	chr4:187164207-187164208	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542467814	chr4:187164212-187164213	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142075807	chr4:187164243-187164244	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145861841	chr4:187164279-187164280	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369683960	chr4:187164280-187164281	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541169167	chr4:187164282-187164283	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558821038	chr4:187164293-187164294	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4253361	chr4:187164294-187164295	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543475849	chr4:187164310-187164311	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536761257	chr4:187164313-187164314	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4253280	chr4:187164346-187164347	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4253281	chr4:187164349-187164350	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548420580	chr4:187164368-187164369	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4253362	chr4:187164370-187164371	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193297578	chr4:187164388-187164389	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184301701	chr4:187164390-187164391	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4253282	chr4:187164399-187164400	ZNF genes & repeats Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570581573	chr4:187164403-187164404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539484095	chr4:187164405-187164406	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:187146400-187172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:187148000-187173000	Weak transcription	Psoas Muscle	Psoas
4	chr4:187148200-187179200	Weak transcription	Lung	lung
5	chr4:187148400-187164600	Weak transcription	Right Ventricle	heart
6	chr4:187148400-187172600	Weak transcription	Brain Anterior Caudate	brain
7	chr4:187148400-187179400	Weak transcription	Pancreas	Pancrea
8	chr4:187149800-187181600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:187151800-187173000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:187152000-187179400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:187152200-187169800	Weak transcription	Brain Substantia Nigra	brain
15	chr4:187154000-187182000	Weak transcription	Primary T cells from cord blood	blood
16	chr4:187156800-187179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:187158000-187173000	Weak transcription	Left Ventricle	heart
18	chr4:187158400-187181400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:187159800-187164800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:187159800-187172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:187161000-187165200	Strong transcription	Liver	Liver
22	chr4:187162200-187164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:187162400-187164400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187162600-187164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:187163000-187164400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:187163000-187164400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:187163200-187164200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:187163200-187164200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:187163200-187164200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:187163200-187164400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:187163200-187164400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:187163200-187164400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:187163400-187163800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:187163600-187163800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:187163800-187164400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:187163800-187164400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr4:187164000-187164200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:187164200-187164400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:187164200-187164400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:187164200-187164600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:187164200-187164800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr4:187164200-187168400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr4:187164400-187164800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:187164400-187164800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
45	chr4:187164400-187164800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:187164400-187164800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:187164400-187164800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr4:187164400-187164800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr4:187164400-187166000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:187164400-187166800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell

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