Variant report

Variant	esv3396897
Chromosome Location	chr7:101925637-101926207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
2	chr7:101916073..101920383-chr7:101924877..101927164,4	K562	blood:
3	chr7:101921891..101926717-chr7:102108345..102112477,4	MCF-7	breast:
4	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
5	chr7:101922653..101924580-chr7:101925750..101927618,2	K562	blood:
6	chr7:101926103..101929302-chr7:102034428..102037305,4	K562	blood:
7	chr7:101923488..101926936-chr7:101927736..101931132,6	K562	blood:

Variant related genes	Relation type
ENSG00000161036	chromatin interactions
ENSG00000264471	chromatin interactions
ENSG00000257923	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000128563	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182318895	chr7:101925645-101925646	Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs712841	chr7:101925696-101925697	Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs2974959	chr7:101925708-101925709	Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189646321	chr7:101925786-101925787	Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs550913113	chr7:101925790-101925791	Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs569026488	chr7:101925793-101925794	Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs539653659	chr7:101925809-101925810	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs552693205	chr7:101925816-101925817	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs143391433	chr7:101925901-101925902	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs535003608	chr7:101925904-101925905	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs553058497	chr7:101925948-101925949	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs199802205	chr7:101925970-101925971	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs113587438	chr7:101925974-101925975	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs374749849	chr7:101925979-101925980	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs201061807	chr7:101925985-101925986	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs373646055	chr7:101925999-101926000	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs367747037	chr7:101926013-101926014	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs149124693	chr7:101926018-101926019	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs200899513	chr7:101926027-101926028	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs142155041	chr7:101926028-101926029	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs151204833	chr7:101926030-101926031	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs572884580	chr7:101926054-101926055	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs1134676	chr7:101926070-101926071	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs372171780	chr7:101926080-101926081	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs543924533	chr7:101926087-101926088	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs368050651	chr7:101926095-101926096	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs371590322	chr7:101926097-101926098	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs111560650	chr7:101926100-101926101	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs201979705	chr7:101926107-101926108	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs528881840	chr7:101926124-101926125	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs550853717	chr7:101926135-101926136	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs115862304	chr7:101926153-101926154	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs13230437	chr7:101926162-101926163	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs533156551	chr7:101926203-101926204	Weak transcription Genic enhancers Enhancers Strong transcription	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
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
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
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928000	Weak transcription	Esophagus	oesophagus
2	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
3	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:101908000-101929200	Weak transcription	Gastric	stomach
7	chr7:101910200-101928400	Weak transcription	Liver	Liver
8	chr7:101915800-101928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:101917400-101929400	Weak transcription	HMEC	breast
11	chr7:101917600-101928000	Weak transcription	Colonic Mucosa	Colon
12	chr7:101918800-101929000	Weak transcription	Stomach Mucosa	stomach
13	chr7:101919000-101928200	Weak transcription	Lung	lung
14	chr7:101923000-101927400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:101923000-101928000	Weak transcription	Fetal Lung	lung
16	chr7:101923200-101927000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:101923200-101927000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:101923200-101927000	Weak transcription	Thymus	Thymus
19	chr7:101923200-101927200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:101923200-101927200	Weak transcription	HSMM	muscle
21	chr7:101923200-101927400	Strong transcription	Fetal Intestine Small	intestine
22	chr7:101923200-101927600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:101923200-101927800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:101923200-101927800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:101923200-101927800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:101923200-101927800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:101923200-101928000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:101923200-101928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:101923200-101928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:101923200-101928000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:101923200-101928000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:101923200-101928000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:101923200-101928400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:101923200-101928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:101923200-101928400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:101923200-101928400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:101923200-101928400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:101923200-101929200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:101923200-101929200	Weak transcription	A549	lung
40	chr7:101923200-101929400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:101923400-101926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:101923400-101926600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:101923400-101927000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:101923400-101927000	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:101923400-101927800	Weak transcription	Placenta	Placenta
46	chr7:101923400-101927800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:101923400-101927800	Weak transcription	Spleen	Spleen
48	chr7:101923400-101928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:101923400-101928200	Weak transcription	Fetal Brain Male	brain
50	chr7:101923400-101928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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