Variant report

Variant	nsv875416
Chromosome Location	chr2:173444462-173504674
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:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173501713..173506948-chr2:173507663..173511952,6	K562	blood:
2	chr2:173456525..173460577-chr2:173461176..173464180,4	MCF-7	breast:
3	chr2:173474539..173476393-chr2:173478394..173481153,2	K562	blood:
4	chr2:173447369..173449263-chr2:173452626..173454447,2	MCF-7	breast:
5	chr2:173469296..173470862-chr2:173472263..173475019,2	K562	blood:
6	chr2:173492299..173494515-chr2:173498149..173499767,2	K562	blood:
7	chr2:173417386..173419457-chr2:173477880..173480867,2	K562	blood:
8	chr2:173469471..173472071-chr2:173476346..173479068,2	MCF-7	breast:
9	chr2:173457626..173459149-chr2:173574802..173575976,4	MCF-7	breast:
10	chr2:173453180..173455030-chr2:173476023..173478835,2	MCF-7	breast:
11	chr2:173499964..173502739-chr2:173506139..173507845,2	MCF-7	breast:
12	chr2:173447369..173449263-chr2:173452626..173454447,2	MCF-7	breast:
13	chr2:173474539..173476393-chr2:173478394..173481153,2	K562	blood:
14	chr2:173492299..173494515-chr2:173498149..173499767,2	K562	blood:
15	chr2:173479500..173482297-chr2:173482570..173485095,2	MCF-7	breast:
16	chr2:173479500..173482297-chr2:173482570..173485095,2	MCF-7	breast:
17	chr2:173469471..173472071-chr2:173476346..173479068,2	MCF-7	breast:
18	chr2:173473529..173474342-chr2:173574927..173575851,2	MCF-7	breast:
19	chr2:173469296..173470862-chr2:173472263..173475019,2	K562	blood:
20	chr2:173419806..173422462-chr2:173445657..173447881,3	MCF-7	breast:
21	chr12:23952262..23953072-chr2:173490213..173490970,2	MCF-7	breast:
22	chr2:173433165..173436053-chr2:173448186..173450385,2	K562	blood:
23	chr2:173456525..173460577-chr2:173461176..173464180,4	MCF-7	breast:
24	chr2:173453180..173455030-chr2:173476023..173478835,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDK1-1	chr2:173492557-173494290	NONHSAT075516
2	lnc-PDK1-1	chr2:173489788-173489861	NONHSAT075516
3	lnc-PDK1-1	chr2:173488299-173488880	NONHSAT075516

No data

Variant related genes	Relation type
ENSG00000152256	chromatin interactions
ENSG00000225205	chromatin interactions

Extended variants
information (count: 2396 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:2396 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6738196	chr2:173444462-173444463	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114922609	chr2:173444466-173444467	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150710520	chr2:173444525-173444526	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544320718	chr2:173444534-173444535	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139113422	chr2:173444612-173444613	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530156017	chr2:173444636-173444637	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78435708	chr2:173444669-173444670	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560758744	chr2:173444696-173444697	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528227245	chr2:173444702-173444703	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199755696	chr2:173444707-173444708	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs767585	chr2:173444718-173444719	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34421752	chr2:173444805-173444806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113578295	chr2:173444839-173444840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78234263	chr2:173444845-173444846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539572585	chr2:173444846-173444847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550330711	chr2:173444868-173444869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571906339	chr2:173444893-173444894	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568805714	chr2:173444917-173444918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6741688	chr2:173444926-173444927	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189774815	chr2:173444927-173444928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17299956	chr2:173444953-173444954	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11287577	chr2:173444967-173444968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539938388	chr2:173444968-173444969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534441419	chr2:173445004-173445005	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559098205	chr2:173445021-173445022	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144812732	chr2:173445039-173445040	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76470145	chr2:173445040-173445041	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139685087	chr2:173445056-173445057	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574453694	chr2:173445086-173445087	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535393087	chr2:173445112-173445113	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78567661	chr2:173445124-173445125	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532258108	chr2:173445164-173445165	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376716635	chr2:173445191-173445192	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181507061	chr2:173445317-173445318	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12476089	chr2:173445325-173445326	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144359717	chr2:173445353-173445354	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550815012	chr2:173445385-173445386	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60792763	chr2:173445404-173445405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529666205	chr2:173445405-173445406	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186004016	chr2:173445427-173445428	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190811054	chr2:173445428-173445429	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181792172	chr2:173445432-173445433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558907353	chr2:173445469-173445470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574533846	chr2:173445506-173445507	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146154498	chr2:173445563-173445564	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543462244	chr2:173445573-173445574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186332823	chr2:173445574-173445575	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556770832	chr2:173445578-173445579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574791081	chr2:173445594-173445595	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190884493	chr2:173445734-173445735	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
2	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
3	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:173423400-173451000	Weak transcription	Colonic Mucosa	Colon
5	chr2:173424600-173447800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
7	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
8	chr2:173431400-173480600	Weak transcription	Gastric	stomach
9	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:173436000-173445600	ZNF genes & repeats	GM12878-XiMat	blood
11	chr2:173437000-173451000	Weak transcription	Thymus	Thymus
12	chr2:173437000-173451800	Weak transcription	Spleen	Spleen
13	chr2:173437400-173449600	Weak transcription	Left Ventricle	heart
14	chr2:173437400-173452000	Weak transcription	Lung	lung
15	chr2:173437600-173449800	Weak transcription	Fetal Stomach	stomach
16	chr2:173437800-173447000	Weak transcription	Placenta	Placenta
17	chr2:173438000-173445800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173438600-173445600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr2:173439200-173445600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:173439800-173458000	Weak transcription	NHDF-Ad	bronchial
21	chr2:173440200-173458200	Weak transcription	Osteobl	bone
22	chr2:173440200-173467600	Weak transcription	NH-A	brain
23	chr2:173441400-173445600	ZNF genes & repeats	K562	blood
24	chr2:173441400-173447800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:173442800-173445000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:173442800-173445200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:173442800-173448400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:173442800-173451000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:173443000-173445000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:173443000-173445000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:173443000-173445000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:173443000-173446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:173443000-173451000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:173443000-173451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:173443200-173444800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:173443200-173446200	Weak transcription	Liver	Liver
37	chr2:173443200-173447000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:173443200-173449800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:173443200-173451000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:173443200-173451000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:173443200-173454400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:173443200-173455200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:173443400-173447000	Weak transcription	Hela-S3	cervix
45	chr2:173443600-173444600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:173443600-173444600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:173443800-173444800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:173443800-173445000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:173443800-173445000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:173443800-173445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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