Variant report

Variant	nsv582213
Chromosome Location	chr2:74120785-74129474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74116934..74118843-chr2:74125346..74127751,2	K562	blood:
2	chr2:74123922..74125895-chr2:74210258..74212793,2	MCF-7	breast:
3	chr2:74119557..74121562-chr2:74683599..74685996,2	MCF-7	breast:
4	chr2:74127459..74128962-chr2:74130366..74132463,2	K562	blood:
5	chr2:74118769..74120588-chr2:74123573..74125540,2	K562	blood:
6	chr2:74125381..74127203-chr2:74153855..74155545,2	K562	blood:
7	chr2:74128002..74132197-chr2:74211265..74214617,3	K562	blood:
8	chr2:74125925..74128450-chr2:74146748..74148354,2	K562	blood:
9	chr2:74123687..74127366-chr2:74128690..74131980,3	K562	blood:
10	chr2:74123687..74127366-chr2:74128690..74131980,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239779	chromatin interactions
ENSG00000163017	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000255989	chromatin interactions
ENSG00000114956	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10176602	chr2:74120785-74120786	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142730045	chr2:74120801-74120802	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11894609	chr2:74120834-74120835	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566607007	chr2:74120892-74120893	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527360920	chr2:74120898-74120899	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147379088	chr2:74120909-74120910	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531372405	chr2:74120958-74120959	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59098607	chr2:74120961-74120962	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34588812	chr2:74120983-74120984	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61306734	chr2:74121000-74121001	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547577112	chr2:74121006-74121007	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571896935	chr2:74121026-74121027	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565887501	chr2:74121084-74121085	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139606098	chr2:74121085-74121086	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553924295	chr2:74121091-74121092	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572228470	chr2:74121103-74121104	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539738240	chr2:74121108-74121109	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115772075	chr2:74121125-74121126	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554553776	chr2:74121170-74121171	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142506298	chr2:74121177-74121178	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150940664	chr2:74121187-74121188	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184869839	chr2:74121214-74121215	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189330477	chr2:74121223-74121224	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72814192	chr2:74121278-74121279	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139611392	chr2:74121290-74121291	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375415696	chr2:74121330-74121331	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368416888	chr2:74121352-74121353	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527399181	chr2:74121379-74121380	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549062179	chr2:74121400-74121401	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34274155	chr2:74121401-74121402	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560945050	chr2:74121495-74121496	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113356229	chr2:74121497-74121498	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180705830	chr2:74121503-74121504	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571872904	chr2:74121540-74121541	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539289686	chr2:74121544-74121545	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547600148	chr2:74121554-74121555	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565892674	chr2:74121558-74121559	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149751263	chr2:74121584-74121585	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554689135	chr2:74121591-74121592	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537479817	chr2:74121592-74121593	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576472881	chr2:74121598-74121599	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555498666	chr2:74121609-74121610	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs146314221	chr2:74121610-74121611	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186362265	chr2:74121611-74121612	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558890505	chr2:74121619-74121620	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567386429	chr2:74121630-74121631	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577882645	chr2:74121677-74121678	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146716268	chr2:74121687-74121688	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs72814195	chr2:74121691-74121692	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572226927	chr2:74121695-74121696	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74115000-74123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:74117200-74121400	Weak transcription	Gastric	stomach
3	chr2:74118200-74123400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:74118200-74123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:74118600-74128400	Weak transcription	HMEC	breast
6	chr2:74119400-74124600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:74119600-74120800	Flanking Active TSS	NHLF	lung
8	chr2:74119600-74122800	Active TSS	Aorta	Aorta
9	chr2:74119800-74120800	Active TSS	Rectal Smooth Muscle	rectum
10	chr2:74119800-74124800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:74120000-74121400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:74120000-74122400	Bivalent/Poised TSS	NH-A	brain
13	chr2:74120200-74121000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:74120200-74121200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr2:74120200-74122200	Active TSS	Duodenum Mucosa	Duodenum
16	chr2:74120200-74122400	Active TSS	Colonic Mucosa	Colon
17	chr2:74120200-74122400	Active TSS	Esophagus	oesophagus
18	chr2:74120200-74122400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
19	chr2:74120200-74123000	Weak transcription	Fetal Thymus	thymus
20	chr2:74120200-74123200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:74120200-74127600	Active TSS	Fetal Intestine Small	intestine
22	chr2:74120200-74130200	Active TSS	Fetal Intestine Large	intestine
23	chr2:74120400-74120800	Active TSS	Lung	lung
24	chr2:74120400-74121000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:74120400-74123600	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:74120400-74123800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:74120400-74124200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:74120400-74124400	Weak transcription	Stomach Mucosa	stomach
29	chr2:74120400-74128800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
30	chr2:74120400-74130000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr2:74120600-74120800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:74120600-74121000	Active TSS	Ovary	ovary
33	chr2:74120600-74121000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:74120600-74121400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:74120600-74123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:74120600-74124000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:74120800-74121600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:74120800-74121600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:74120800-74122000	Active TSS	NHLF	lung
40	chr2:74120800-74122200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
41	chr2:74121000-74121200	Flanking Active TSS	Ovary	ovary
42	chr2:74121000-74121800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:74121000-74122400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:74121200-74122000	Enhancers	Primary T cells from cord blood	blood
45	chr2:74121200-74122000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:74121200-74122200	Enhancers	Ovary	ovary
47	chr2:74121400-74121600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:74121400-74121600	Enhancers	Gastric	stomach
49	chr2:74121400-74121800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr2:74121400-74122400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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