Variant report

Variant	esv3477451
Chromosome Location	chr7:105389454-105391166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105390715..105392664-chr7:105397272..105399990,2	K562	blood:
2	chr7:105377810..105380833-chr7:105386333..105389611,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77822869	chr7:105389477-105389478	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531910746	chr7:105389484-105389485	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545311345	chr7:105389491-105389492	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565096805	chr7:105389501-105389502	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192630371	chr7:105389562-105389563	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553963457	chr7:105389608-105389609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546374763	chr7:105389625-105389626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145489729	chr7:105389631-105389632	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118070860	chr7:105389650-105389651	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73193809	chr7:105389659-105389660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183017713	chr7:105389747-105389748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76394860	chr7:105389860-105389861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538106398	chr7:105389867-105389868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529944452	chr7:105389882-105389883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59557563	chr7:105389949-105389950	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529710143	chr7:105390069-105390070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34443905	chr7:105390082-105390083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571310108	chr7:105390090-105390091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147400572	chr7:105390121-105390122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548049778	chr7:105390123-105390124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553966388	chr7:105390144-105390145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574114925	chr7:105390172-105390173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542590435	chr7:105390188-105390189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35523108	chr7:105390194-105390195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188855634	chr7:105390202-105390203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576036633	chr7:105390237-105390238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553468197	chr7:105390239-105390240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545949241	chr7:105390341-105390342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571641895	chr7:105390354-105390355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545250535	chr7:105390362-105390363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73717271	chr7:105390383-105390384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139693676	chr7:105390384-105390385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539071265	chr7:105390385-105390386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541643878	chr7:105390444-105390445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559966723	chr7:105390445-105390446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528966288	chr7:105390459-105390460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549117486	chr7:105390461-105390462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192909622	chr7:105390469-105390470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531337301	chr7:105390486-105390487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145280077	chr7:105390547-105390548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3601	chr7:105390559-105390560	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs184720123	chr7:105390567-105390568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10238370	chr7:105390636-105390637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs647632	chr7:105390650-105390651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs536305667	chr7:105390675-105390676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200153235	chr7:105390729-105390730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556242279	chr7:105390767-105390768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576024001	chr7:105390816-105390817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375543796	chr7:105390863-105390864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538686531	chr7:105390868-105390869	Weak transcription Strong transcription	n/a	n/a	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
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
Medulloblastoma	16783165	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105352800-105392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:105354400-105390000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:105354400-105399800	Weak transcription	Ovary	ovary
4	chr7:105354600-105392000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:105355000-105401000	Weak transcription	NHEK	skin
6	chr7:105359800-105406200	Weak transcription	Gastric	stomach
7	chr7:105359800-105438600	Weak transcription	Pancreas	Pancrea
8	chr7:105360000-105391400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:105360800-105406200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:105361200-105394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:105364400-105402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:105364600-105390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:105364600-105393000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:105364600-105416400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:105366600-105390200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:105367200-105428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:105367400-105391600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:105374400-105390400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:105375600-105400200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:105375600-105400400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:105378400-105391800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:105379400-105416200	Weak transcription	Left Ventricle	heart
23	chr7:105381600-105399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:105382600-105410400	Weak transcription	Right Atrium	heart
25	chr7:105382800-105393200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:105383000-105398800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:105383400-105400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:105384000-105399800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:105384200-105389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:105384200-105393400	Weak transcription	Lung	lung
31	chr7:105384400-105390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:105384400-105398400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:105384400-105399000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:105384600-105390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:105384600-105391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:105384600-105393600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:105384600-105438600	Weak transcription	Spleen	Spleen
38	chr7:105385000-105399800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:105385000-105434800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:105386400-105393000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:105386600-105416600	Weak transcription	Right Ventricle	heart
42	chr7:105386800-105393000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:105387000-105400800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:105387000-105405800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:105387600-105391000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:105387600-105392000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:105387600-105396200	Weak transcription	Fetal Brain Female	brain
48	chr7:105387600-105400400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:105388000-105390200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:105388400-105390000	Weak transcription	NHDF-Ad	bronchial

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