Variant report

Variant	esv15061
Chromosome Location	chr4:187162949-187168923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:187161516-187163596	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:187165144-187167561	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr4:187168595-187169103	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:187165329-187165708	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:187167865-187168978	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:187164166-187164972	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:187167786-187168560	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:187161672-187163517	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:187164423-187164838	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr4:187168912-187169588	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr4:187165142-187170727	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr4:187161706-187163174	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr4:187164273-187164920	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr4:187164416-187164825	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr4:187167906-187168481	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr4:187161540-187163325	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr4:187165837-187166153	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr4:187166443-187166818	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr4:187161677-187163205	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:187163128-187163164	GM10248	blood:	n/a	n/a
21	GTF2F1	chr4:187164717-187164820	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2F1	chr4:187161955-187162958	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr4:187168300-187168832	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr4:187166531-187166723	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr4:187166003-187166239	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr4:187164438-187164559	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr4:187163221-187163333	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr4:187167885-187167987	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr4:187164594-187164779	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:187166975-187167587	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:187164078-187166924	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:187163597-187163800	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:187161444-187169424	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:187163043-187163478	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:187167672-187168774	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:187162817-187163017	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:187161418-187168880	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:187161509-187168891	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:187161346-187169451	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3A	chr4:187165791-187166256	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr4:187168185-187168824	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3A	chr4:187167840-187167972	H1-hESC	embryonic stem cell:	n/a	n/a
43	SP1	chr4:187168592-187168869	H1-hESC	embryonic stem cell:	n/a	n/a
44	SP1	chr4:187168187-187168845	H1-hESC	embryonic stem cell:	n/a	chr4:187168486-187168497
45	SP1	chr4:187162959-187163301	H1-hESC	embryonic stem cell:	n/a	chr4:187163224-187163235
46	SP1	chr4:187168077-187168512	H1-hESC	embryonic stem cell:	n/a	chr4:187168486-187168497
47	SP1	chr4:187162977-187163425	H1-hESC	embryonic stem cell:	n/a	chr4:187163224-187163235
48	SP4	chr4:187166124-187166420	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP4	chr4:187164341-187164811	H1-hESC	embryonic stem cell:	n/a	n/a
50	SP4	chr4:187161627-187163181	H1-hESC	embryonic stem cell:	n/a	chr4:187162254-187162270

No data

Variant related genes	Relation type
KLKB1	TF binding region

Extended variants
information (count: 295 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569320627	chr4:187163120-187163121	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4253262	chr4:187163163-187163164	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs4253263	chr4:187163167-187163168	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4253357	chr4:187163192-187163193	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4253264	chr4:187163201-187163202	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200625336	chr4:187163235-187163236	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533923121	chr4:187163236-187163237	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13126698	chr4:187163268-187163269	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs190536474	chr4:187163279-187163280	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538510349	chr4:187163284-187163285	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558340401	chr4:187163295-187163296	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4253358	chr4:187163296-187163297	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181660060	chr4:187163298-187163299	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4253265	chr4:187163306-187163307	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4253266	chr4:187163369-187163370	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs4253359	chr4:187163370-187163371	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540213822	chr4:187163392-187163393	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368967811	chr4:187163407-187163408	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4253267	chr4:187163414-187163415	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187133740	chr4:187163421-187163422	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138250120	chr4:187163449-187163450	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4253268	chr4:187163471-187163472	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4253269	chr4:187163511-187163512	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs192416884	chr4:187163515-187163516	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548694571	chr4:187163521-187163522	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4253270	chr4:187163557-187163558	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527750993	chr4:187163586-187163587	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547401615	chr4:187163599-187163600	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527498602	chr4:187163606-187163607	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386683486	chr4:187163612-187163613	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4253272	chr4:187163614-187163615	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552049753	chr4:187163615-187163616	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4253273	chr4:187163626-187163627	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537630044	chr4:187163639-187163640	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4253274	chr4:187163652-187163653	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372955338	chr4:187163658-187163659	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574471740	chr4:187163694-187163695	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536819948	chr4:187163707-187163708	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	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
40	rs188034230	chr4:187163747-187163748	Weak transcription Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189746013	chr4:187163817-187163818	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546556613	chr4:187163841-187163842	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4253276	chr4:187163859-187163860	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4253277	chr4:187163881-187163882	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs574734628	chr4:187163911-187163912	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182372345	chr4:187163972-187163973	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542245146	chr4:187164009-187164010	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187089885	chr4:187164010-187164011	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555050332	chr4:187164011-187164012	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4253360	chr4:187164023-187164024	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:110 , 50 per page) page: 1 2 3

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	chr4:187161800-187163000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:187162000-187163000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:187162000-187163200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:187162000-187163200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:187162000-187163200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:187162200-187164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:187162400-187163000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:187162400-187164400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:187162600-187163200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:187162600-187164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:187162800-187163000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:187162800-187163200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:187162800-187163200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:187162800-187163200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
36	chr4:187163000-187163200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr4:187163000-187164400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:187163000-187164400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr4:187163200-187163400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr4:187163200-187163600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:187163200-187164200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:187163200-187164200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:187163200-187164200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:187163200-187164400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr4:187163200-187164400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:187163200-187164400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:187163400-187163800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:187163600-187163800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:187163800-187164400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr4:187163800-187164400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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