Variant report

Variant	esv1794138
Chromosome Location	chr3:136300732-136332204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:136303620-136303859	GM12878	blood:	n/a	n/a
2	BHLHE40	chr3:136305498-136305790	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:136319334-136319615	IMR90	lung:	n/a	n/a
4	CEBPB	chr3:136305548-136305823	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:136331527-136331782	IMR90	lung:	n/a	n/a
6	CEBPB	chr3:136312366-136312485	A549	lung:	n/a	chr3:136312422-136312433 chr3:136312422-136312435 chr3:136312424-136312435
7	CEBPB	chr3:136319380-136319542	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr3:136312257-136312544	HepG2	liver:	n/a	chr3:136312422-136312433 chr3:136312422-136312435 chr3:136312424-136312435
9	CEBPB	chr3:136313200-136313398	HepG2	liver:	n/a	chr3:136313263-136313274 chr3:136313265-136313276
10	CEBPB	chr3:136319343-136319543	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:136319332-136319852	K562	blood:	n/a	n/a
12	CEBPB	chr3:136319483-136319757	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr3:136314829-136314951	LNCaP	prostate:	n/a	n/a
14	CTCF	chr3:136314720-136314870	AG10803	skin:	n/a	n/a
15	CTCF	chr3:136328025-136328093	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr3:136328043-136328065	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:136328037-136328104	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:136327920-136328070	HCT-116	colon:	n/a	n/a
19	CTCF	chr3:136314740-136314890	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr3:136304003-136304074	GM13976	blood:	n/a	n/a
21	CTCF	chr3:136314801-136314849	GM10248	blood:	n/a	n/a
22	CTCF	chr3:136327919-136328154	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:136328062-136328073	GM12878	blood:	n/a	n/a
24	CTCF	chr3:136327152-136327193	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr3:136328006-136328119	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr3:136330960-136331110	MCF-7	breast:	n/a	n/a
27	E2F4	chr3:136321403-136321483	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr3:136305394-136305835	HepG2	liver:	n/a	n/a
29	EP300	chr3:136305501-136305911	HepG2	liver:	n/a	n/a
30	FOS	chr3:136321366-136321600	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr3:136321383-136321589	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr3:136323872-136324152	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr3:136315198-136315498	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr3:136323916-136324144	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr3:136315163-136315474	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr3:136321325-136321514	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr3:136315084-136315397	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr3:136321287-136321545	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL1	chr3:136323808-136324275	HCT-116	colon:	n/a	n/a
40	FOXA1	chr3:136305425-136305839	HepG2	liver:	n/a	n/a
41	FOXA1	chr3:136305473-136305818	T-47D	breast:	n/a	n/a
42	FOXA1	chr3:136304418-136304792	HepG2	liver:	n/a	n/a
43	FOXA1	chr3:136305504-136305875	HepG2	liver:	n/a	n/a
44	FOXA1	chr3:136305484-136305848	HepG2	liver:	n/a	n/a
45	FOXA1	chr3:136305353-136305878	HepG2	liver:	n/a	n/a
46	FOXA1	chr3:136305439-136305800	T-47D	breast:	n/a	n/a
47	FOXA2	chr3:136305091-136306104	HepG2	liver:	n/a	chr3:136306035-136306047
48	FOXA2	chr3:136304480-136304715	HepG2	liver:	n/a	n/a
49	FOXA2	chr3:136305465-136305853	HepG2	liver:	n/a	n/a
50	GATA3	chr3:136314568-136315177	SK-N-SH	brain:	n/a	chr3:136314836-136314846

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:136313460..136316433-chr3:136321833..136323832,2	MCF-7	breast:
2	chr3:136326023..136327530-chr3:136469307..136471684,2	K562	blood:
3	chr3:136309554..136311362-chr3:136314085..136316749,2	K562	blood:
4	chr3:136309415..136311669-chr3:136473283..136476207,2	K562	blood:
5	chr19:58906309..58907021-chr3:136319840..136320595,2	HCT-116	colon:
6	chr3:136303371..136305169-chr3:136469440..136472893,3	MCF-7	breast:
7	chr3:136279189..136281857-chr3:136298738..136300966,2	MCF-7	breast:
8	chr3:136317046..136319207-chr3:136469829..136472283,2	MCF-7	breast:
9	chr3:136309554..136311362-chr3:136314085..136316749,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM22-5	chr3:136327892-136328444	NONHSAT092278

No data

Variant related genes	Relation type
RNY4P4	TF binding region
HMGN1P10	TF binding region
STAG1	TF binding region
ENSG00000261758	chromatin interactions
ENSG00000118007	chromatin interactions

Extended variants
information (count: 1279 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12635723	chr3:136300732-136300733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140701487	chr3:136300781-136300782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116179789	chr3:136300784-136300785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183055767	chr3:136300899-136300900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12630998	chr3:136300923-136300924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12630999	chr3:136300927-136300928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs144624151	chr3:136300931-136300932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565488291	chr3:136300937-136300938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147843618	chr3:136300956-136300957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548086609	chr3:136300992-136300993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371022414	chr3:136301065-136301066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201717434	chr3:136301073-136301074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568005865	chr3:136301078-136301079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186324430	chr3:136301091-136301092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111843797	chr3:136301097-136301098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190977959	chr3:136301098-136301099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377294167	chr3:136301249-136301250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538742628	chr3:136301363-136301364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558403973	chr3:136301368-136301369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182179524	chr3:136301378-136301379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534563200	chr3:136301399-136301400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187900760	chr3:136301407-136301408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376193801	chr3:136301461-136301462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542569339	chr3:136301502-136301503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556162885	chr3:136301508-136301509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192411989	chr3:136301532-136301533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368713423	chr3:136301568-136301569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545465609	chr3:136301572-136301573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565261539	chr3:136301590-136301591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144990019	chr3:136301609-136301610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548035957	chr3:136301628-136301629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183150002	chr3:136301654-136301655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561524069	chr3:136301732-136301733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187432318	chr3:136301751-136301752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549775523	chr3:136301753-136301754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569618714	chr3:136301816-136301817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532040267	chr3:136301817-136301818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149098230	chr3:136301818-136301819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193030805	chr3:136301826-136301827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561460418	chr3:136301902-136301903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73228040	chr3:136301950-136301951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs554349427	chr3:136301957-136301958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184779977	chr3:136301963-136301964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111228145	chr3:136302014-136302015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536961676	chr3:136302021-136302022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557006640	chr3:136302039-136302040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534220537	chr3:136302100-136302101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189831541	chr3:136302148-136302149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545120986	chr3:136302151-136302152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113828186	chr3:136302166-136302167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:136212200-136323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:136213000-136326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:136247200-136319800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:136247200-136334800	Weak transcription	Aorta	Aorta
6	chr3:136248200-136349200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:136251400-136319000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:136251600-136322400	Weak transcription	Liver	Liver
9	chr3:136252600-136320400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:136252800-136305600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:136252800-136314800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:136263000-136327200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:136265400-136314800	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:136266400-136315600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:136266600-136314600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:136266600-136316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:136266800-136314800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:136268200-136351200	Weak transcription	Esophagus	oesophagus
19	chr3:136269000-136303200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:136271200-136331400	Weak transcription	NHDF-Ad	bronchial
21	chr3:136272600-136335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:136274200-136314000	Weak transcription	GM12878-XiMat	blood
23	chr3:136276600-136303800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:136277800-136315200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:136279800-136303200	Weak transcription	Ovary	ovary
26	chr3:136280000-136323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:136283600-136314600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:136283800-136341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:136284400-136337800	Weak transcription	Fetal Kidney	kidney
30	chr3:136285000-136307200	Weak transcription	Lung	lung
31	chr3:136285000-136314800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:136285200-136335400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:136285400-136313600	Weak transcription	Left Ventricle	heart
34	chr3:136285800-136303400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:136286400-136305200	Weak transcription	Fetal Thymus	thymus
36	chr3:136286600-136314600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:136286800-136307200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:136286800-136322600	Weak transcription	Placenta	Placenta
39	chr3:136286800-136343600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:136287200-136335400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:136287400-136305200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:136288000-136304800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:136289600-136341800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:136290000-136351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:136290400-136305600	Weak transcription	Gastric	stomach
46	chr3:136290400-136315000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:136292000-136307000	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:136292200-136307200	Weak transcription	Thymus	Thymus
49	chr3:136292400-136303400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:136293000-136306000	Weak transcription	Fetal Stomach	stomach

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