Variant report

Variant	esv3389507
Chromosome Location	chr7:96764366-96766314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:96763976-96764686	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65266389..65266952-chr7:96765475..96765975,2	Hela-S3	cervix:
2	chr7:96722317..96724979-chr7:96765637..96768618,2	MCF-7	breast:
3	chr7:96765006..96767658-chr7:96799778..96802504,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX5-5	chr7:96764327-96764873	NONHSAT122140

No data

Variant related genes	Relation type
HMGB3P21	TF binding region
ENSG00000251562	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79709721	chr7:96764387-96764388	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs200730835	chr7:96764388-96764389	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs76757859	chr7:96764389-96764390	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576450150	chr7:96764390-96764391	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541981439	chr7:96764392-96764393	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113919964	chr7:96764395-96764396	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs527668697	chr7:96764397-96764398	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs117970416	chr7:96764401-96764402	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs142727237	chr7:96764404-96764405	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs147384531	chr7:96764406-96764407	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369924076	chr7:96764421-96764422	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs76527645	chr7:96764427-96764428	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569771163	chr7:96764464-96764465	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs528934398	chr7:96764467-96764468	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373778537	chr7:96764475-96764476	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs139128880	chr7:96764477-96764478	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs565810689	chr7:96764480-96764481	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs534602287	chr7:96764520-96764521	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs557818108	chr7:96764590-96764591	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs571144260	chr7:96764614-96764615	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540152532	chr7:96764625-96764626	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs149939789	chr7:96764634-96764635	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs10236394	chr7:96764677-96764678	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs145070284	chr7:96764694-96764695	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527721151	chr7:96764719-96764720	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs542449291	chr7:96764745-96764746	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs560423359	chr7:96764767-96764768	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs193177231	chr7:96764820-96764821	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs182718660	chr7:96764867-96764868	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs187042377	chr7:96764882-96764883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200130627	chr7:96764891-96764892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149130645	chr7:96764894-96764895	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371315200	chr7:96764911-96764912	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs60160630	chr7:96764914-96764915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112324483	chr7:96764915-96764916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370585172	chr7:96764916-96764917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs61262737	chr7:96764933-96764934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533026665	chr7:96764946-96764947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568214946	chr7:96764950-96764951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374321868	chr7:96764976-96764977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs61105331	chr7:96764978-96764979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56102126	chr7:96764980-96764981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13311605	chr7:96764982-96764983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34446320	chr7:96764993-96764994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370580393	chr7:96764994-96764995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs367669649	chr7:96764995-96764996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs56154325	chr7:96764996-96764997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs56154838	chr7:96765015-96765016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543353813	chr7:96765062-96765063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs193131697	chr7:96765068-96765069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96747600-96768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:96747800-96768200	Weak transcription	Aorta	Aorta
3	chr7:96748400-96767200	Weak transcription	Fetal Stomach	stomach
4	chr7:96748400-96768200	Weak transcription	Right Ventricle	heart
5	chr7:96748400-96768400	Weak transcription	Psoas Muscle	Psoas
6	chr7:96749000-96768200	Weak transcription	Right Atrium	heart
7	chr7:96749200-96768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:96749400-96768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:96749400-96768200	Weak transcription	Primary T cells from cord blood	blood
10	chr7:96752400-96766000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:96755000-96766800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:96755000-96768000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:96756200-96767800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:96756400-96765600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:96756600-96766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:96756600-96768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:96756600-96768000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:96759200-96768400	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:96760000-96767200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:96760000-96768000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:96760000-96768000	Weak transcription	Spleen	Spleen
22	chr7:96760000-96768200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:96760000-96768200	Weak transcription	Esophagus	oesophagus
24	chr7:96760200-96767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:96760200-96768000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:96760200-96768200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:96760400-96766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:96760400-96766600	Weak transcription	K562	blood
29	chr7:96760400-96767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:96760400-96768000	Weak transcription	Liver	Liver
31	chr7:96760400-96768000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:96760400-96768200	Weak transcription	Gastric	stomach
33	chr7:96760400-96768200	Weak transcription	Left Ventricle	heart
34	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:96762200-96764800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:96762400-96764400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:96762400-96764600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:96762400-96766400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:96762800-96766600	Weak transcription	Primary B cells from cord blood	blood
40	chr7:96762800-96768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:96762800-96768600	Weak transcription	Fetal Lung	lung
42	chr7:96763000-96766400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:96763200-96764400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:96763200-96766800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:96763600-96767400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:96764000-96766400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:96764000-96768000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:96764200-96764400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:96764400-96764800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr7:96764400-96767400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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