Variant report

Variant	esv3443458
Chromosome Location	chr7:100072593-100072937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100072183..100074781-chr7:100075477..100078153,2	K562	blood:
2	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
3	chr7:100072828..100074767-chr7:100164156..100166742,3	K562	blood:
4	chr7:100072849..100075078-chr7:100283693..100285830,2	K562	blood:
5	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
6	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
7	chr7:100072419..100074734-chr7:100181421..100183838,2	K562	blood:
8	chr7:100070743..100075629-chr7:100178965..100183270,7	K562	blood:
9	chr7:100072681..100074818-chr7:100183478..100186083,2	MCF-7	breast:
10	chr7:100071827..100074750-chr7:100153997..100156937,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106336	chromatin interactions
ENSG00000166925	chromatin interactions
ENSG00000160813	chromatin interactions
ENSG00000240211	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000146830	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000241357	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544752225	chr7:100072675-100072676	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs139095954	chr7:100072686-100072687	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs539066903	chr7:100072687-100072688	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs1962269	chr7:100072767-100072768	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs1962268	chr7:100072772-100072773	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs368977594	chr7:100072792-100072793	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs376733849	chr7:100072839-100072840	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs573372849	chr7:100072848-100072849	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs543974499	chr7:100072870-100072871	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100063800-100073000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:100063800-100073400	Weak transcription	NH-A	brain
3	chr7:100064000-100073200	Strong transcription	Thymus	Thymus
4	chr7:100064000-100073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:100064200-100073000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:100064600-100073000	Strong transcription	Dnd41	blood
7	chr7:100065000-100074800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:100065800-100075200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:100066200-100073000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:100067400-100073200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:100067400-100073600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:100067400-100074400	Weak transcription	Psoas Muscle	Psoas
13	chr7:100067400-100074800	Weak transcription	Aorta	Aorta
14	chr7:100067600-100073000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:100067600-100073600	Weak transcription	HepG2	liver
16	chr7:100067800-100073200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:100068000-100073200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:100068600-100073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:100068600-100073600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:100068800-100073600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:100069600-100073200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:100069600-100073200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:100069600-100073400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:100069600-100073400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:100069600-100073400	Enhancers	Fetal Heart	heart
26	chr7:100069600-100073400	Genic enhancers	Placenta	Placenta
27	chr7:100069800-100073400	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr7:100069800-100073400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr7:100070000-100075400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:100070200-100073000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:100070200-100074000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:100070200-100074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:100070400-100073000	Genic enhancers	Primary T cells from cord blood	blood
34	chr7:100070400-100073200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr7:100070400-100073200	Genic enhancers	Fetal Thymus	thymus
36	chr7:100070400-100073200	Strong transcription	Pancreas	Pancrea
37	chr7:100070400-100073400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:100070400-100073400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:100070400-100074000	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:100070400-100074000	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr7:100070400-100074000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:100070400-100074000	Genic enhancers	Fetal Stomach	stomach
43	chr7:100070400-100074600	Genic enhancers	Spleen	Spleen
44	chr7:100070600-100072600	Genic enhancers	Primary B cells from cord blood	blood
45	chr7:100070600-100072600	Strong transcription	Liver	Liver
46	chr7:100070600-100072600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:100070600-100072800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:100070600-100073000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:100070600-100073000	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:100070600-100073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links