Variant report

Variant	esv1796894
Chromosome Location	chr7:122406585-122422387
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	chr7:122399403..122401482-chr7:122418764..122421246,2	MCF-7	breast:
2	chr7:121982082..121984768-chr7:122414729..122417554,2	K562	blood:

Extended variants
information (count: 504 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187499103	chr7:122406693-122406694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112361478	chr7:122406756-122406757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531188258	chr7:122406798-122406799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541436086	chr7:122406830-122406831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17144819	chr7:122406844-122406845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527358030	chr7:122406853-122406854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547574070	chr7:122406906-122406907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546338617	chr7:122406946-122406947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139432023	chr7:122406969-122406970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533305735	chr7:122406972-122406973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550084026	chr7:122406990-122406991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569937551	chr7:122407006-122407007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554714231	chr7:122407075-122407076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192961105	chr7:122407101-122407102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554625067	chr7:122407202-122407203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568543491	chr7:122407271-122407272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149611025	chr7:122407283-122407284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373868606	chr7:122407293-122407294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554383086	chr7:122407336-122407337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144353079	chr7:122407343-122407344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73719769	chr7:122407344-122407345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556464447	chr7:122407362-122407363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568452096	chr7:122407368-122407369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75648327	chr7:122407391-122407392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527829214	chr7:122407414-122407415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184569920	chr7:122407426-122407427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547296114	chr7:122407484-122407485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139852087	chr7:122407507-122407508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572153878	chr7:122407510-122407511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540761955	chr7:122407580-122407581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143287336	chr7:122407600-122407601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376025552	chr7:122407611-122407612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533139588	chr7:122407620-122407621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146653718	chr7:122407645-122407646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563583630	chr7:122407668-122407669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370525070	chr7:122407691-122407692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547574878	chr7:122407693-122407694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570881021	chr7:122407694-122407695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568352392	chr7:122407700-122407701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538468727	chr7:122407716-122407717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534334073	chr7:122407824-122407825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547548428	chr7:122407829-122407830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570586505	chr7:122407872-122407873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139100812	chr7:122407895-122407896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556299685	chr7:122407896-122407897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576333425	chr7:122407899-122407900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187548400	chr7:122407901-122407902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142534338	chr7:122407926-122407927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373709705	chr7:122407941-122407942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571931913	chr7:122408083-122408084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122399600-122407200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:122405000-122410600	Weak transcription	Left Ventricle	heart
3	chr7:122405200-122411600	Weak transcription	Fetal Kidney	kidney
4	chr7:122405600-122410800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:122406000-122409800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:122406000-122410000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:122406000-122410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:122406200-122407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:122406200-122409200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:122406400-122406600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:122406400-122407000	Enhancers	Fetal Heart	heart
12	chr7:122406400-122407200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:122406600-122407400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:122406800-122408400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:122406800-122416000	Weak transcription	Fetal Lung	lung
16	chr7:122407000-122408800	Weak transcription	Fetal Heart	heart
17	chr7:122407200-122408400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:122407200-122410200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:122407200-122411800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:122407400-122407600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:122407400-122407600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:122407400-122407800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:122407400-122409600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:122407600-122432000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:122407800-122408600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:122408400-122409400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:122408400-122411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:122408600-122409000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:122408800-122409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:122408800-122409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:122408800-122409600	Enhancers	Fetal Heart	heart
32	chr7:122409000-122410000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:122409200-122410600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:122409400-122409600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:122409400-122409600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:122409400-122409600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:122409600-122410800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:122409600-122410800	Weak transcription	Pancreas	Pancrea
39	chr7:122409600-122411000	Weak transcription	Fetal Heart	heart
40	chr7:122409600-122428000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:122409600-122432200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:122409800-122411800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:122410000-122410400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:122410000-122411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:122410200-122411000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:122410200-122411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:122410400-122411800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:122410600-122411000	Enhancers	Esophagus	oesophagus
49	chr7:122410600-122411000	Enhancers	Left Ventricle	heart
50	chr7:122410600-122411000	Enhancers	Psoas Muscle	Psoas

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