Variant report

Variant	esv3328093
Chromosome Location	chr7:96647611-96648018
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	BACH1	chr7:96647818-96647824	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr7:96645669-96647906	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:96647556-96647636	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr7:96647674-96647762	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
7	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
8	REST	chr7:96645097-96647724	H1-neurons	neurons:	n/a	n/a
9	SUZ12	chr7:96645885-96648969	NT2-D1	testis:	n/a	n/a
10	SUZ12	chr7:96645469-96648990	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr7:96647625-96647911	H1-hESC	embryonic stem cell:	n/a	chr7:96647654-96647664

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96647888-96647938	CMK	blood:	n/a
2	chr7:96647888-96647938	MCF-7	breast:	n/a
3	chr7:96647888-96647938	HL-60	blood:	n/a
4	chr7:96647882-96647932	HCM	heart:	n/a
5	chr7:96647888-96647938	HEK293	kidney:	embryo
6	chr7:96647882-96647932	A549	lung:	n/a
7	chr7:96647888-96647938	HUVEC	blood vessel:	n/a
8	chr7:96647888-96647938	NB4	blood:	n/a
9	chr7:96647888-96647938	Caco-2	colon:	n/a
10	chr7:96647888-96647938	Hepatocyte	liver:	n/a
11	chr7:96647882-96647932	HL-60	blood:	n/a
12	chr7:96647888-96647938	NHDF-neo	bronchial:	n/a
13	chr7:96647888-96647938	ECC-1	luminal epithelium:	n/a
14	chr7:96647882-96647932	HCF	heart:	n/a
15	chr7:96647882-96647932	SK-N-SH_RA	brain:	n/a
16	chr7:96647882-96647932	GM12891	blood:	n/a
17	chr7:96647888-96647938	ovcar-3	ovarian:	n/a
18	chr7:96647888-96647938	SK-N-MC	brain:	n/a
19	chr7:96647888-96647938	ProgFib	skin:	n/a
20	chr7:96647882-96647932	HepG2	liver:	n/a
21	chr7:96647882-96647932	NHDF-neo	bronchial:	n/a
22	chr7:96647888-96647938	GM12892	blood:	n/a
23	chr7:96647882-96647932	HMEC	breast:	n/a
24	chr7:96647888-96647938	AG09309	skin:	n/a
25	chr7:96647888-96647938	HCPEpiC	choroid plexus:	n/a
26	chr7:96647888-96647938	HIPEpiC	eye:	n/a
27	chr7:96647882-96647932	HUVEC	blood vessel:	n/a
28	chr7:96647888-96647938	BJ	skin:	n/a
29	chr7:96647888-96647938	HAEpiC	amniotic membrane:	n/a
30	chr7:96647882-96647932	HIPEpiC	eye:	n/a
31	chr7:96647882-96647932	ovcar-3	ovarian:	n/a
32	chr7:96647882-96647932	HRPEpiC	eye:	n/a
33	chr7:96647882-96647932	GM12892	blood:	n/a
34	chr7:96647888-96647938	SAEC	small airway:	n/a
35	chr7:96647882-96647932	HEK293	kidney:	embryo
36	chr7:96647882-96647932	NHBE	bronchial:	n/a
37	chr7:96647888-96647938	SKMC	muscle:	n/a
38	chr7:96647888-96647938	AG04449	skin:	fetal
39	chr7:96647888-96647938	RPTEC	kidney:	n/a
40	chr7:96647882-96647932	ProgFib	skin:	n/a
41	chr7:96647888-96647938	AG09319	gingival:	n/a
42	chr7:96647882-96647932	BE2_C	brain:	n/a
43	chr7:96647888-96647938	NH-A	brain:	n/a
44	chr7:96647888-96647938	HEEpiC	esophagus:	n/a
45	chr7:96647882-96647932	U87	brain:	n/a
46	chr7:96647882-96647932	SKMC	muscle:	n/a
47	chr7:96647888-96647938	SK-N-SH	brain:	n/a
48	chr7:96647882-96647932	BJ	skin:	n/a
49	chr7:96647882-96647932	AoSMC	blood vessel:	n/a
50	chr7:96647888-96647938	U87	brain:	n/a

Variant related genes	Relation type
DLX6-AS1	TF binding region
DLX6-AS1	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557111739	chr7:96647652-96647653	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374960495	chr7:96647712-96647713	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542905120	chr7:96647746-96647747	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559949238	chr7:96647776-96647777	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573164355	chr7:96647834-96647835	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545350987	chr7:96647909-96647910	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs565255528	chr7:96647949-96647950	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531003406	chr7:96647977-96647978	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96644600-96648200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:96645200-96647800	Flanking Active TSS	Osteobl	bone
3	chr7:96645200-96651600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:96645400-96648400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr7:96645600-96647800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:96645600-96647800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr7:96645600-96647800	Bivalent Enhancer	Fetal Stomach	stomach
8	chr7:96645600-96647800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr7:96645600-96648200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:96645800-96648200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr7:96646200-96647800	Bivalent Enhancer	Psoas Muscle	Psoas
12	chr7:96646400-96648000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr7:96646400-96648000	Bivalent Enhancer	Esophagus	oesophagus
14	chr7:96646600-96647800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:96646600-96648000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr7:96646600-96648000	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr7:96646600-96648000	Enhancers	Right Atrium	heart
18	chr7:96646600-96648200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:96646800-96647800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:96646800-96647800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:96646800-96648000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:96646800-96648000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:96646800-96648000	Bivalent Enhancer	Right Ventricle	heart
24	chr7:96647000-96650200	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr7:96647000-96655200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr7:96647200-96647800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr7:96647200-96647800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr7:96647200-96647800	Enhancers	HepG2	liver
29	chr7:96647400-96647800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr7:96647400-96648000	Bivalent Enhancer	Liver	Liver
31	chr7:96647400-96648000	Bivalent/Poised TSS	HSMM	muscle
32	chr7:96647400-96648400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:96647600-96647800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:96647600-96647800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:96647600-96647800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:96647600-96647800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr7:96647600-96647800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:96647600-96647800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:96647600-96647800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr7:96647600-96647800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
41	chr7:96647600-96647800	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr7:96647600-96647800	Bivalent Enhancer	Fetal Lung	lung
43	chr7:96647600-96647800	Bivalent Enhancer	Fetal Thymus	thymus
44	chr7:96647600-96647800	Bivalent Enhancer	Left Ventricle	heart
45	chr7:96647600-96647800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr7:96647600-96647800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr7:96647600-96647800	Flanking Bivalent TSS/Enh	HSMMtube	muscle
48	chr7:96647600-96648000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:96647600-96648000	Bivalent/Poised TSS	NHEK	skin
50	chr7:96647600-96650200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain

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