Variant report

Variant	nsv819414
Chromosome Location	chr7:100286538-100286987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100286922-100287812	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:100286218-100287013	K562	blood:	n/a	n/a
3	POLR2A	chr7:100279071-100287739	K562	blood:	n/a	n/a
4	POLR2A	chr7:100286678-100287047	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:100286649-100288004	K562	blood:	n/a	n/a
6	POLR2A	chr7:100285875-100286698	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr7:100284828-100286626	K562	blood:	n/a	n/a
8	POLR2A	chr7:100286910-100286946	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:100286654-100287004	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100286908-100286958	MCF10A-Er-Src	breast:	n/a
2	chr7:100286908-100286958	NB4	blood:	n/a
3	chr7:100286908-100286958	GM19239	blood:	n/a
4	chr7:100286908-100286958	HEK293	kidney:	embryo
5	chr7:100286908-100286958	MCF-7	breast:	n/a
6	chr7:100286908-100286958	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:100286908-100286958	HCM	heart:	n/a
8	chr7:100286908-100286958	Hela-S3	cervix:	n/a
9	chr7:100286908-100286958	SKMC	muscle:	n/a
10	chr7:100286908-100286958	AG09319	gingival:	n/a
11	chr7:100286908-100286958	IMR90	lung:	fetal
12	chr7:100286908-100286958	PrEC	prostate:	n/a
13	chr7:100286908-100286958	T-47D	breast:	n/a
14	chr7:100286908-100286958	HL-60	blood:	n/a
15	chr7:100286908-100286958	NT2-D1	testis:	n/a
16	chr7:100286908-100286958	BE2_C	brain:	n/a
17	chr7:100286908-100286958	HAEpiC	amniotic membrane:	n/a
18	chr7:100286908-100286958	BJ	skin:	n/a
19	chr7:100286908-100286958	ECC-1	luminal epithelium:	n/a
20	chr7:100286908-100286958	Jurkat	blood:	n/a
21	chr7:100286908-100286958	HEEpiC	esophagus:	n/a
22	chr7:100286908-100286958	HMEC	breast:	n/a
23	chr7:100286908-100286958	AoSMC	blood vessel:	n/a
24	chr7:100286908-100286958	HRPEpiC	eye:	n/a
25	chr7:100286908-100286958	NHDF-neo	bronchial:	n/a
26	chr7:100286908-100286958	LNCaP	prostate:	n/a
27	chr7:100286908-100286958	NHBE	bronchial:	n/a
28	chr7:100286908-100286958	SAEC	small airway:	n/a
29	chr7:100286908-100286958	AG04449	skin:	fetal
30	chr7:100286908-100286958	Hepatocyte	liver:	n/a
31	chr7:100286908-100286958	AG04450	lung:	fetal
32	chr7:100286908-100286958	GM06990	blood:	n/a
33	chr7:100286908-100286958	HCF	heart:	n/a
34	chr7:100286908-100286958	HUVEC	blood vessel:	n/a
35	chr7:100286908-100286958	U87	brain:	n/a
36	chr7:100286908-100286958	NH-A	brain:	n/a
37	chr7:100286908-100286958	ProgFib	skin:	n/a
38	chr7:100286908-100286958	GM12891	blood:	n/a
39	chr7:100286908-100286958	HCPEpiC	choroid plexus:	n/a
40	chr7:100286908-100286958	HRE	kidney:	n/a
41	chr7:100286908-100286958	ovcar-3	ovarian:	n/a
42	chr7:100286908-100286958	GM12878	blood:	n/a
43	chr7:100286908-100286958	AG10803	skin:	n/a
44	chr7:100286908-100286958	Caco-2	colon:	n/a
45	chr7:100286908-100286958	HCT-116	colon:	n/a
46	chr7:100286908-100286958	SK-N-SH_RA	brain:	n/a
47	chr7:100286908-100286958	PANC-1	pancreas:	n/a
48	chr7:100286908-100286958	H1-hESC	embryonic stem cell:	embryo
49	chr7:100286908-100286958	HepG2	liver:	n/a
50	chr7:100286908-100286958	SK-N-MC	brain:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
2	chr7:100284400..100287604-chr7:100471903..100474319,4	MCF-7	breast:
3	chr7:100182617..100185782-chr7:100284570..100287283,3	MCF-7	breast:
4	chr7:100222759..100227059-chr7:100284156..100289115,6	K562	blood:
5	chr7:100181696..100183356-chr7:100285003..100287484,2	K562	blood:
6	chr7:100200773..100203323-chr7:100286656..100289565,2	MCF-7	breast:
7	chr7:100228701..100230503-chr7:100285337..100287602,2	K562	blood:
8	chr7:100025163..100029050-chr7:100284721..100290800,5	MCF-7	breast:
9	chr7:100229407..100233868-chr7:100285575..100288686,3	MCF-7	breast:
10	chr7:100285374..100287070-chr7:100470986..100472980,2	K562	blood:
11	chr7:100284987..100287383-chr7:100301493..100305069,3	K562	blood:
12	chr7:100025899..100028913-chr7:100286592..100288668,3	K562	blood:

No data

Variant related genes	Relation type
GIGYF1	TF binding region
GIGYF1	CpG island
ENSG00000224729	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000106333	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000077454	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532547382	chr7:100286610-100286611	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs550631668	chr7:100286664-100286665	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs10233533	chr7:100286669-100286670	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113269093	chr7:100286772-100286773	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs539164730	chr7:100286774-100286775	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs557305522	chr7:100286777-100286778	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs566136645	chr7:100286782-100286783	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs11762468	chr7:100286806-100286807	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs569441935	chr7:100286823-100286824	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs182549687	chr7:100286839-100286840	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs186829538	chr7:100286862-100286863	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs538084829	chr7:100286867-100286868	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs556605061	chr7:100286902-100286903	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs578118413	chr7:100286930-100286931	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs537000964	chr7:100286939-100286940	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs149684786	chr7:100286955-100286956	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs560478300	chr7:100286962-100286963	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100274000-100287000	Strong transcription	Lung	lung
2	chr7:100274200-100287600	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr7:100274200-100288800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100274200-100289200	Weak transcription	Fetal Kidney	kidney
5	chr7:100274200-100290400	Weak transcription	HSMMtube	muscle
6	chr7:100274400-100287400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr7:100274400-100287400	Strong transcription	Brain Substantia Nigra	brain
8	chr7:100274400-100287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100274400-100287800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:100274400-100287800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:100274400-100287800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:100274400-100288000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:100274400-100288000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:100274400-100288600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:100274600-100286600	Strong transcription	Rectal Smooth Muscle	rectum
16	chr7:100274600-100287000	Strong transcription	Fetal Lung	lung
17	chr7:100274600-100287200	Strong transcription	Dnd41	blood
18	chr7:100274600-100287600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:100274600-100287800	Weak transcription	Fetal Brain Male	brain
20	chr7:100274600-100288200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:100274800-100286600	Strong transcription	Fetal Thymus	thymus
22	chr7:100274800-100288600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:100275000-100286800	Strong transcription	Brain Hippocampus Middle	brain
24	chr7:100275600-100287800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr7:100275800-100287000	Strong transcription	Liver	Liver
26	chr7:100276000-100287600	Strong transcription	Gastric	stomach
27	chr7:100276400-100288800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:100276400-100290000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:100277400-100287200	Strong transcription	Esophagus	oesophagus
30	chr7:100277400-100287600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:100277400-100288000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:100277600-100287200	Strong transcription	Placenta	Placenta
33	chr7:100277800-100287000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:100277800-100287200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:100278400-100287000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:100278400-100287400	Strong transcription	Colonic Mucosa	Colon
37	chr7:100278400-100287800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:100278400-100287800	Strong transcription	Fetal Intestine Small	intestine
39	chr7:100278400-100288400	Strong transcription	Fetal Intestine Large	intestine
40	chr7:100278600-100286800	Strong transcription	Ovary	ovary
41	chr7:100278600-100288000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:100278800-100286800	Strong transcription	Adipose Nuclei	Adipose
43	chr7:100278800-100287600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:100278800-100288000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:100279200-100287000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr7:100279400-100286600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:100279400-100286800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:100279400-100288400	Strong transcription	Fetal Stomach	stomach
49	chr7:100279600-100286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:100279600-100286600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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