Variant report

Variant	esv3342679
Chromosome Location	chr5:96213254-96213770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:96212888-96213530	PBDE	blood:	n/a	chr5:96213076-96213092 chr5:96213076-96213092 chr5:96213483-96213495 chr5:96213073-96213094
2	GATA2	chr5:96212850-96213407	HUVEC	blood vessel:	n/a	chr5:96213076-96213092 chr5:96213076-96213092 chr5:96213073-96213094
3	IRF1	chr5:96211442-96213361	K562	blood:	n/a	chr5:96212173-96212190 chr5:96212168-96212182 chr5:96212170-96212184 chr5:96212176-96212190 chr5:96212166-96212186 chr5:96212174-96212184 chr5:96212171-96212185 chr5:96212179-96212196 chr5:96212168-96212189 chr5:96212174-96212185 chr5:96212172-96212192 chr5:96212172-96212185 chr5:96212172-96212185 chr5:96212174-96212188 chr5:96212172-96212185 chr5:96212175-96212186 chr5:96212169-96212180
4	IRF1	chr5:96211340-96213330	K562	blood:	n/a	chr5:96212173-96212190 chr5:96212168-96212182 chr5:96212170-96212184 chr5:96212176-96212190 chr5:96212166-96212186 chr5:96212174-96212184 chr5:96212171-96212185 chr5:96212179-96212196 chr5:96212168-96212189 chr5:96212174-96212185 chr5:96212172-96212192 chr5:96212172-96212185 chr5:96212172-96212185 chr5:96212174-96212188 chr5:96212172-96212185 chr5:96212175-96212186 chr5:96212169-96212180
5	MAZ	chr5:96212967-96213289	K562	blood:	n/a	n/a
6	MYC	chr5:96213396-96213508	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:96213008-96213269	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr5:96211390-96213417	GM12891	blood:	n/a	n/a
9	SPI1	chr5:96213620-96213853	GM12891	blood:	n/a	chr5:96213681-96213694
10	SPI1	chr5:96213560-96213895	HL-60	blood:	n/a	chr5:96213681-96213694

No.	Distal block	Cell Line	Cell type
1	chr5:96212214..96214084-chr5:96217203..96219457,3	K562	blood:
2	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
3	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
4	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:
5	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
6	chr5:96212491..96215464-chr5:96223042..96225542,2	K562	blood:
7	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:

Variant related genes	Relation type
ERAP2	TF binding region
ENSG00000247121	TF binding region
ENSG00000113441	chromatin interactions
ENSG00000164308	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000247121	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193096468	chr5:96213313-96213314	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs113171446	chr5:96213332-96213333	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs1235617	chr5:96213333-96213334	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs532025389	chr5:96213355-96213356	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs549110023	chr5:96213386-96213387	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs567410730	chr5:96213387-96213388	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs534937040	chr5:96213422-96213423	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs36182209	chr5:96213435-96213436	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs397821282	chr5:96213443-96213444	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs17087122	chr5:96213470-96213471	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs578086892	chr5:96213486-96213487	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs539330902	chr5:96213496-96213497	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs557640604	chr5:96213516-96213517	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs199772883	chr5:96213561-96213562	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs368823505	chr5:96213562-96213563	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs397817119	chr5:96213565-96213566	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs200479695	chr5:96213566-96213567	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs576154381	chr5:96213582-96213583	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs3806936	chr5:96213607-96213608	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs185788503	chr5:96213616-96213617	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs570854130	chr5:96213624-96213625	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs189102952	chr5:96213640-96213641	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs540741480	chr5:96213642-96213643	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs559514413	chr5:96213666-96213667	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs532940691	chr5:96213714-96213715	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs551654462	chr5:96213728-96213729	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211000-96213400	Active TSS	Right Atrium	heart
2	chr5:96211400-96213400	Active TSS	Brain Anterior Caudate	brain
3	chr5:96211400-96213800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr5:96211600-96213400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:96211600-96213400	Active TSS	Brain Substantia Nigra	brain
6	chr5:96211600-96213400	Active TSS	Colonic Mucosa	Colon
7	chr5:96211600-96213600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:96211800-96213400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr5:96211800-96213400	Active TSS	Brain Angular Gyrus	brain
10	chr5:96211800-96213400	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:96212000-96213400	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr5:96212000-96213400	Active TSS	K562	blood
14	chr5:96212000-96213600	Active TSS	Primary T cells fromperipheralblood	blood
15	chr5:96212000-96213600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:96212000-96213800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr5:96212000-96213800	Active TSS	Thymus	Thymus
18	chr5:96212000-96214000	Active TSS	GM12878-XiMat	blood
19	chr5:96212200-96217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:96212200-96217000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:96212600-96213800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr5:96212600-96215400	Weak transcription	Spleen	Spleen
23	chr5:96212600-96215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:96212600-96217000	Weak transcription	Gastric	stomach
25	chr5:96212600-96217200	Weak transcription	Fetal Heart	heart
26	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:96212800-96213400	Enhancers	Fetal Intestine Small	intestine
28	chr5:96212800-96213400	Enhancers	Fetal Lung	lung
29	chr5:96212800-96213600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr5:96212800-96213800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:96212800-96215400	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:96212800-96217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:96212800-96220000	Weak transcription	Fetal Stomach	stomach
34	chr5:96213000-96213400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:96213000-96213400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:96213000-96213400	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr5:96213000-96213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:96213000-96213400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:96213000-96213400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:96213000-96213400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr5:96213000-96213400	Flanking Active TSS	Liver	Liver
42	chr5:96213000-96213400	Enhancers	Brain Cingulate Gyrus	brain
43	chr5:96213000-96213400	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr5:96213000-96213400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:96213000-96213400	Flanking Active TSS	Fetal Thymus	thymus
46	chr5:96213000-96213400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:96213000-96213400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:96213000-96213400	Flanking Active TSS	A549	lung
49	chr5:96213000-96213400	Flanking Active TSS	HMEC	breast
50	chr5:96213000-96213400	Flanking Active TSS	NHLF	lung

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