Variant report

Variant	esv3390782
Chromosome Location	chr7:100633432-100648730
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	chr7:100648211..100651401-chr7:100653251..100655813,3	K562	blood:
2	chr7:100648084..100649778-chr7:100660214..100661843,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACHE-6	chr7:100643354-100643800	NONHSAT122434
2	lnc-ACHE-6	chr7:100647545-100647615	NONHSAT122434

Variant related genes	Relation type
ENSG00000227053	chromatin interactions
ENSG00000205277	chromatin interactions

Extended variants
information (count: 896 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146389032	chr7:100633447-100633448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556576649	chr7:100633448-100633449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138486372	chr7:100633464-100633465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539000637	chr7:100633507-100633508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558107044	chr7:100633576-100633577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573203922	chr7:100633577-100633578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79650929	chr7:100633592-100633593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576423111	chr7:100633593-100633594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369664311	chr7:100633594-100633595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564413650	chr7:100633626-100633627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543974329	chr7:100633636-100633637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142926161	chr7:100633637-100633638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544001389	chr7:100633663-100633664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532778141	chr7:100633680-100633681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146123098	chr7:100633772-100633773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529219905	chr7:100633785-100633786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528017488	chr7:100633797-100633798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186535928	chr7:100633826-100633827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11762738	chr7:100633827-100633828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538397326	chr7:100633829-100633830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61747298	chr7:100633844-100633845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189325082	chr7:100633849-100633850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10234997	chr7:100633853-100633854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200518818	chr7:100633892-100633893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113027958	chr7:100633938-100633939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572394250	chr7:100633973-100633974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199754908	chr7:100634023-100634024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555589369	chr7:100634029-100634030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369401041	chr7:100634036-100634037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372959219	chr7:100634038-100634039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532986734	chr7:100634048-100634049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573762718	chr7:100634077-100634078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544357946	chr7:100634104-100634105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113357590	chr7:100634112-100634113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376181565	chr7:100634113-100634114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562261678	chr7:100634124-100634125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143984295	chr7:100634145-100634146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376562174	chr7:100634146-100634147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568461289	chr7:100634169-100634170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559764350	chr7:100634188-100634189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180939983	chr7:100634212-100634213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549423210	chr7:100634236-100634237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201061508	chr7:100634240-100634241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35653200	chr7:100634272-100634273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561595253	chr7:100634286-100634287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531833883	chr7:100634296-100634297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185116753	chr7:100634302-100634303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571855490	chr7:100634307-100634308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377755999	chr7:100634308-100634309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370911866	chr7:100634311-100634312	Strong transcription Weak transcription	n/a	n/a	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100625000-100634800	Weak transcription	Spleen	Spleen
2	chr7:100625600-100635000	Weak transcription	Right Atrium	heart
3	chr7:100627600-100634200	Weak transcription	Colonic Mucosa	Colon
4	chr7:100633200-100637800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr7:100633400-100635400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr7:100633400-100636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100634200-100635000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:100634200-100635600	Strong transcription	Colonic Mucosa	Colon
9	chr7:100634800-100635800	ZNF genes & repeats	Spleen	Spleen
10	chr7:100635000-100635200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr7:100635000-100635400	ZNF genes & repeats	Gastric	stomach
12	chr7:100635000-100635800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:100635000-100635800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
14	chr7:100635000-100635800	ZNF genes & repeats	Right Atrium	heart
15	chr7:100635400-100635800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr7:100635400-100660000	Weak transcription	Gastric	stomach
17	chr7:100635600-100635800	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
19	chr7:100635800-100636400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
22	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:100641800-100644000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr7:100642400-100643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:100642600-100643600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:100642800-100643400	Weak transcription	Fetal Intestine Small	intestine
29	chr7:100643200-100643600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:100643400-100643600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:100643400-100643800	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr7:100643600-100647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:100643800-100655400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:100644000-100647800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:100647800-100650000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:100647800-100659000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr7:100648200-100648400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:100648200-100648800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:100648200-100648800	Strong transcription	Colonic Mucosa	Colon
43	chr7:100648400-100648600	Enhancers	Spleen	Spleen

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