Variant report

Variant	esv1825858
Chromosome Location	chr7:100634268-100648625
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	chr7:100647545-100647615	NONHSAT122434
2	lnc-ACHE-6	chr7:100643354-100643800	NONHSAT122434

Variant related genes	Relation type
ENSG00000227053	chromatin interactions
ENSG00000205277	chromatin interactions

Extended variants
information (count: 845 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35653200	chr7:100634272-100634273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561595253	chr7:100634286-100634287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531833883	chr7:100634296-100634297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185116753	chr7:100634302-100634303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571855490	chr7:100634307-100634308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377755999	chr7:100634308-100634309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370911866	chr7:100634311-100634312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547907596	chr7:100634316-100634317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190755853	chr7:100634317-100634318	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374277977	chr7:100634318-100634319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536608170	chr7:100634325-100634326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370220422	chr7:100634341-100634342	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374115836	chr7:100634345-100634346	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61746936	chr7:100634356-100634357	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61746937	chr7:100634358-100634359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567173084	chr7:100634369-100634370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374128187	chr7:100634374-100634375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117301718	chr7:100634386-100634387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370245340	chr7:100634392-100634393	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199521685	chr7:100634403-100634404	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577415446	chr7:100634408-100634409	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61746950	chr7:100634409-100634410	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183463642	chr7:100634431-100634432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371891242	chr7:100634440-100634441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542581157	chr7:100634442-100634443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372961064	chr7:100634444-100634445	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556543189	chr7:100634445-100634446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532066040	chr7:100634446-100634447	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6980143	chr7:100634476-100634477	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565524249	chr7:100634484-100634485	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370156782	chr7:100634523-100634524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532704724	chr7:100634526-100634527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186273734	chr7:100634547-100634548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371764016	chr7:100634566-100634567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192022887	chr7:100634567-100634568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61746396	chr7:100634568-100634569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375755133	chr7:100634586-100634587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145186653	chr7:100634591-100634592	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182768578	chr7:100634597-100634598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569933041	chr7:100634604-100634605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201012482	chr7:100634621-100634622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555995393	chr7:100634628-100634629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386716197	chr7:100634640-100634641	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115914202	chr7:100634641-100634642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61749513	chr7:100634643-100634644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150986435	chr7:100634657-100634658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61749518	chr7:100634667-100634668	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554591399	chr7:100634670-100634671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576103280	chr7:100634677-100634678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140854690	chr7:100634681-100634682	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:42 , 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	chr7:100633200-100637800	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr7:100633400-100635400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr7:100633400-100636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:100634200-100635000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:100634200-100635600	Strong transcription	Colonic Mucosa	Colon
8	chr7:100634800-100635800	ZNF genes & repeats	Spleen	Spleen
9	chr7:100635000-100635200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr7:100635000-100635400	ZNF genes & repeats	Gastric	stomach
11	chr7:100635000-100635800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:100635000-100635800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
13	chr7:100635000-100635800	ZNF genes & repeats	Right Atrium	heart
14	chr7:100635400-100635800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
15	chr7:100635400-100660000	Weak transcription	Gastric	stomach
16	chr7:100635600-100635800	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
18	chr7:100635800-100636400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
21	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:100641800-100644000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr7:100642400-100643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:100642600-100643600	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:100642800-100643400	Weak transcription	Fetal Intestine Small	intestine
28	chr7:100643200-100643600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:100643400-100643600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:100643400-100643800	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr7:100643600-100647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:100643800-100655400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:100644000-100647800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:100647800-100650000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:100647800-100659000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr7:100648200-100648400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100648200-100648800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:100648200-100648800	Strong transcription	Colonic Mucosa	Colon
42	chr7:100648400-100648600	Enhancers	Spleen	Spleen

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