Variant report

Variant	esv3448083
Chromosome Location	chr7:120438766-120440939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120437232..120440783-chr7:120445669..120448518,3	K562	blood:
2	chr7:120439909..120442311-chr7:120595170..120598046,2	K562	blood:
3	chr7:120431064..120435276-chr7:120437934..120440347,4	K562	blood:
4	chr7:120440526..120443320-chr7:120444759..120447483,2	MCF-7	breast:
5	chr7:120439283..120443487-chr7:120444760..120448518,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201045966	chr7:120438855-120438856	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547356363	chr7:120438860-120438861	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570547460	chr7:120438877-120438878	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559080068	chr7:120438880-120438881	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41629	chr7:120438889-120438890	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538501476	chr7:120438892-120438893	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35108911	chr7:120438903-120438904	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116092982	chr7:120438905-120438906	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139488513	chr7:120438926-120438927	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574936545	chr7:120438942-120438943	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540612899	chr7:120438967-120438968	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549633853	chr7:120439026-120439027	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554005290	chr7:120439034-120439035	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556427743	chr7:120439051-120439052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544895513	chr7:120439134-120439135	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3807876	chr7:120439136-120439137	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530721670	chr7:120439163-120439164	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544139842	chr7:120439387-120439388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146769368	chr7:120439408-120439409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186421888	chr7:120439514-120439515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs42228	chr7:120439519-120439520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566466256	chr7:120439581-120439582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181946207	chr7:120439624-120439625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs41630	chr7:120439653-120439654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531794521	chr7:120439661-120439662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111219806	chr7:120439668-120439669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527430911	chr7:120439775-120439776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536122868	chr7:120439794-120439795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569473672	chr7:120439802-120439803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538436426	chr7:120439837-120439838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373571010	chr7:120439838-120439839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538825537	chr7:120439920-120439921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555326791	chr7:120440003-120440004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568752076	chr7:120440024-120440025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375355222	chr7:120440053-120440054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534203382	chr7:120440163-120440164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7457488	chr7:120440167-120440168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190862752	chr7:120440201-120440202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79981868	chr7:120440244-120440245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539882440	chr7:120440272-120440273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556374663	chr7:120440280-120440281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369042008	chr7:120440285-120440286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148902379	chr7:120440304-120440305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560863966	chr7:120440310-120440311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574361933	chr7:120440328-120440329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143239569	chr7:120440346-120440347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540753515	chr7:120440357-120440358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531934299	chr7:120440386-120440387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560052070	chr7:120440397-120440398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532000232	chr7:120440419-120440420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120423000-120449200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:120425800-120454400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:120426600-120442000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:120427400-120466000	Weak transcription	Fetal Stomach	stomach
6	chr7:120428400-120440400	Weak transcription	Fetal Intestine Small	intestine
7	chr7:120429200-120445600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:120432400-120442200	Weak transcription	Right Ventricle	heart
10	chr7:120432600-120438800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:120432600-120444600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:120432600-120453800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:120432600-120455400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:120432600-120468400	Weak transcription	Lung	lung
15	chr7:120432800-120438800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:120433200-120446000	Weak transcription	Fetal Kidney	kidney
17	chr7:120436200-120445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:120437000-120444800	Weak transcription	Left Ventricle	heart
19	chr7:120437200-120441400	Strong transcription	Fetal Intestine Large	intestine
20	chr7:120437600-120439400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:120437600-120439400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:120437800-120442000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:120437800-120442200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:120438000-120443200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:120438000-120445800	Weak transcription	Liver	Liver
26	chr7:120438200-120439400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:120438400-120439400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:120438600-120438800	Genic enhancers	Fetal Heart	heart
29	chr7:120438600-120439200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:120438800-120439000	Enhancers	Fetal Heart	heart
31	chr7:120438800-120439200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:120438800-120439200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:120439000-120445600	Weak transcription	Fetal Heart	heart
34	chr7:120439200-120457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:120439400-120441400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:120439400-120441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:120440400-120441200	Strong transcription	Fetal Intestine Small	intestine

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