Variant report

Variant	esv3377784
Chromosome Location	chr7:104726466-104728889
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:104727856..104730481-chr7:104744664..104746301,2	K562	blood:
2	chr7:104721027..104723919-chr7:104728482..104730826,2	K562	blood:
3	chr7:104651553..104653771-chr7:104726908..104729258,2	K562	blood:
4	chr7:104622359..104624225-chr7:104726075..104728986,2	K562	blood:
5	chr7:104719158..104720755-chr7:104724452..104726723,2	K562	blood:
6	chr7:104728005..104730295-chr7:104752877..104755250,2	K562	blood:
7	chr7:104717490..104719449-chr7:104726208..104728832,2	K562	blood:
8	chr7:104622725..104624630-chr7:104727486..104729559,2	K562	blood:
9	chr7:104653713..104656193-chr7:104728786..104730327,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005483	chromatin interactions
ENSG00000272918	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138816087	chr7:104726477-104726478	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149365444	chr7:104726489-104726490	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147463426	chr7:104726510-104726511	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139837225	chr7:104726531-104726532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373732879	chr7:104726553-104726554	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117871677	chr7:104726554-104726555	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367914808	chr7:104726565-104726566	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367844257	chr7:104726567-104726568	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540754134	chr7:104726587-104726588	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28489493	chr7:104726627-104726628	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574289903	chr7:104726700-104726701	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543168538	chr7:104726702-104726703	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563154332	chr7:104726727-104726728	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532241322	chr7:104726731-104726732	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567212101	chr7:104726783-104726784	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534849563	chr7:104726826-104726827	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552469077	chr7:104726833-104726834	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181197052	chr7:104726947-104726948	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528526494	chr7:104726948-104726949	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548386458	chr7:104726953-104726954	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568517569	chr7:104726972-104726973	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186702655	chr7:104727041-104727042	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551160573	chr7:104727093-104727094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375492997	chr7:104727159-104727160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs117691378	chr7:104727190-104727191	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539721424	chr7:104727205-104727206	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553663934	chr7:104727211-104727212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541664253	chr7:104727220-104727221	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35398852	chr7:104727221-104727222	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10630206	chr7:104727230-104727231	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10630207	chr7:104727355-104727356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34970586	chr7:104727356-104727357	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs57384300	chr7:104727361-104727362	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548088911	chr7:104727407-104727408	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190157259	chr7:104727434-104727435	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571938345	chr7:104727450-104727451	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534660483	chr7:104727454-104727455	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs144133396	chr7:104727462-104727463	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371978773	chr7:104727467-104727468	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs372556370	chr7:104727476-104727477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543132243	chr7:104727487-104727488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377205642	chr7:104727490-104727491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552404028	chr7:104727513-104727514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563117646	chr7:104727534-104727535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576998213	chr7:104727536-104727537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545767932	chr7:104727575-104727576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559645036	chr7:104727585-104727586	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75009137	chr7:104727606-104727607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147320349	chr7:104727608-104727609	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534723511	chr7:104727623-104727624	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
4	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr7:104697000-104726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:104697600-104726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:104699800-104738400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:104700800-104726800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:104701200-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:104701600-104726800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr7:104701600-104727000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr7:104702200-104727000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:104702200-104738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
19	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:104703200-104727000	Strong transcription	Liver	Liver
21	chr7:104703400-104727400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:104703600-104727000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
24	chr7:104703800-104726600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr7:104703800-104735400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
27	chr7:104704600-104727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:104705800-104726800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:104707000-104727000	Strong transcription	GM12878-XiMat	blood
31	chr7:104707000-104739200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:104707400-104727000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:104707400-104727000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:104707800-104726800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:104707800-104727000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:104707800-104730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:104708000-104726800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:104709600-104744400	Weak transcription	Right Ventricle	heart
39	chr7:104710600-104727000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:104710800-104726600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:104712000-104727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:104712400-104727000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:104712600-104736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:104713200-104726800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:104713200-104727000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:104713600-104735600	Strong transcription	Adipose Nuclei	Adipose
48	chr7:104714600-104727000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:104714800-104727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:104714800-104727000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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