Variant report

Variant	nsv824235
Chromosome Location	chr7:99710452-99711111
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	HNF4A	chr7:99710289-99710514	HepG2	liver:	n/a	chr7:99710389-99710397 chr7:99710445-99710460
2	HNF4A	chr7:99710315-99710534	HepG2	liver:	n/a	chr7:99710389-99710397 chr7:99710445-99710460
3	HNF4G	chr7:99710295-99710540	HepG2	liver:	n/a	chr7:99710389-99710397 chr7:99710416-99710431 chr7:99710439-99710454
4	HNF4G	chr7:99710266-99710547	HepG2	liver:	n/a	chr7:99710389-99710397 chr7:99710416-99710431 chr7:99710439-99710454
5	MAX	chr7:99710315-99710646	HepG2	liver:	n/a	n/a
6	MAX	chr7:99710268-99710638	HepG2	liver:	n/a	n/a
7	NR2F2	chr7:99710268-99710580	K562	blood:	n/a	n/a
8	NR2F2	chr7:99710256-99710565	HepG2	liver:	n/a	n/a
9	NR2F2	chr7:99710300-99710648	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:99710730-99711317	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:99710400-99710492	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:99710783-99710796	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:99710596-99710764	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:99710960-99711117	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:99710931-99711333	K562	blood:	n/a	n/a
16	POLR2A	chr7:99710425-99710452	K562	blood:	n/a	n/a
17	POLR2A	chr7:99710778-99711342	K562	blood:	n/a	n/a
18	POLR2A	chr7:99711075-99711132	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:99710591-99710594	K562	blood:	n/a	n/a
20	POLR2A	chr7:99710912-99711203	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:99710579-99710585	K562	blood:	n/a	n/a
22	POLR2A	chr7:99710430-99710523	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:99710461-99710564	K562	blood:	n/a	n/a
24	POLR2A	chr7:99711026-99711150	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:99710335-99710567	K562	blood:	n/a	n/a
26	POLR2A	chr7:99710984-99711300	HL-60	blood:	n/a	n/a
27	SP1	chr7:99710179-99710575	HepG2	liver:	n/a	n/a
28	ZBTB7A	chr7:99710409-99710520	K562	blood:	n/a	n/a
29	ZNF263	chr7:99711051-99711385	HEK293-T-REx	kidney:	n/a	chr7:99711221-99711242 chr7:99711189-99711210

No.	Distal block	Cell Line	Cell type
1	chr7:99709043..99711986-chr7:99718165..99719979,3	K562	blood:
2	chr7:99709712..99711434-chr7:99720028..99722233,2	K562	blood:
3	chr7:99708863..99711392-chr7:99752836..99754442,2	K562	blood:
4	chr7:99709639..99711480-chr7:99723026..99724757,2	K562	blood:

Variant related genes	Relation type
TAF6	TF binding region
ENSG00000166997	chromatin interactions
ENSG00000214309	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000266154	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147325647	chr7:99710470-99710471	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs201476323	chr7:99710509-99710510	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs185350046	chr7:99710548-99710549	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs201625885	chr7:99710562-99710563	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs142800085	chr7:99710568-99710569	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs555960501	chr7:99710580-99710581	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs4134904	chr7:99710584-99710585	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs397759758	chr7:99710585-99710586	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs75847419	chr7:99710586-99710587	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566804729	chr7:99710653-99710654	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs538585525	chr7:99710676-99710677	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs190057082	chr7:99710710-99710711	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs554689771	chr7:99710714-99710715	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs578078560	chr7:99710744-99710745	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs144977632	chr7:99710745-99710746	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs558875149	chr7:99710804-99710805	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs373404097	chr7:99710844-99710845	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs572469555	chr7:99710847-99710848	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs75828513	chr7:99710906-99710907	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs542742729	chr7:99710913-99710914	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs181469109	chr7:99710950-99710951	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs371705424	chr7:99710961-99710962	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs141064340	chr7:99710988-99710989	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs144807535	chr7:99711012-99711013	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs377165144	chr7:99711039-99711040	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs4134903	chr7:99711040-99711041	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs376575539	chr7:99711058-99711059	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs138856474	chr7:99711065-99711066	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs200606397	chr7:99711073-99711074	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs192013797	chr7:99711098-99711099	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs566326715	chr7:99711107-99711108	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 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	19812545	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99700200-99716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:99700200-99716400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:99700400-99715800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:99700400-99716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99700400-99716200	Weak transcription	Psoas Muscle	Psoas
6	chr7:99700400-99716200	Weak transcription	Small Intestine	intestine
7	chr7:99700600-99711000	Weak transcription	Stomach Mucosa	stomach
8	chr7:99700600-99711400	Strong transcription	Placenta	Placenta
9	chr7:99700600-99712000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:99700600-99712000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:99700600-99712000	Strong transcription	Lung	lung
12	chr7:99700600-99712400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:99700600-99713000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:99700600-99713200	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:99700600-99714600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:99700600-99715200	Strong transcription	Fetal Stomach	stomach
17	chr7:99700600-99716200	Weak transcription	Fetal Brain Male	brain
18	chr7:99700800-99711800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:99700800-99711800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr7:99700800-99712000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr7:99700800-99712000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr7:99700800-99712200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:99700800-99712200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:99700800-99712600	Strong transcription	Colonic Mucosa	Colon
25	chr7:99700800-99713000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:99700800-99713000	Strong transcription	Thymus	Thymus
27	chr7:99700800-99714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:99701000-99711600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:99701000-99711800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:99701000-99712000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:99701000-99712000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr7:99701000-99712000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:99701000-99712800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:99701000-99712800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:99701000-99712800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:99701000-99713000	Strong transcription	Fetal Thymus	thymus
37	chr7:99701000-99713000	Strong transcription	Spleen	Spleen
38	chr7:99701000-99713200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:99701000-99714000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:99701000-99714600	Strong transcription	Fetal Intestine Large	intestine
41	chr7:99701200-99711400	Strong transcription	Pancreas	Pancrea
42	chr7:99701200-99712000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:99701200-99712000	Strong transcription	Brain Germinal Matrix	brain
44	chr7:99701200-99712000	Strong transcription	Fetal Brain Female	brain
45	chr7:99701200-99712000	Strong transcription	Gastric	stomach
46	chr7:99701200-99712000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:99701200-99712000	Strong transcription	Dnd41	blood
48	chr7:99701200-99712200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:99701200-99712800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:99701200-99713000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links