Variant report

Variant	nsv583012
Chromosome Location	chr2:127414661-127420228
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	chr2:127064260..127066484-chr2:127415621..127417230,2	K562	blood:
2	chr2:127414075..127416361-chr2:127822342..127824026,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-6	chr2:127415183-127415768	NONHSAT074132

Variant related genes	Relation type
ENSG00000235774	chromatin interactions
ENSG00000136717	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6729097	chr2:127414661-127414662	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570840276	chr2:127414674-127414675	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527667797	chr2:127414755-127414756	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201781286	chr2:127414777-127414778	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534515526	chr2:127414786-127414787	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570974255	chr2:127414794-127414795	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369026241	chr2:127414795-127414796	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28387085	chr2:127414803-127414804	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75951385	chr2:127414838-127414839	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549791747	chr2:127414847-127414848	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569501504	chr2:127414896-127414897	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535545246	chr2:127414907-127414908	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185928067	chr2:127414909-127414910	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377675055	chr2:127414922-127414923	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200294467	chr2:127415024-127415025	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145989695	chr2:127415039-127415040	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28369971	chr2:127415046-127415047	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578029533	chr2:127415073-127415074	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533181193	chr2:127415078-127415079	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556525533	chr2:127415091-127415092	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576320021	chr2:127415126-127415127	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35047657	chr2:127415137-127415138	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190794921	chr2:127415145-127415146	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561821450	chr2:127415177-127415178	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572189443	chr2:127415201-127415202	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs541265390	chr2:127415261-127415262	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs564334185	chr2:127415265-127415266	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs533678731	chr2:127415288-127415289	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs550165516	chr2:127415302-127415303	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs370637628	chr2:127415335-127415336	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs183942279	chr2:127415343-127415344	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs28387086	chr2:127415352-127415353	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs565814120	chr2:127415358-127415359	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs188836097	chr2:127415382-127415383	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs551649136	chr2:127415399-127415400	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs28387087	chr2:127415463-127415464	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs146283766	chr2:127415464-127415465	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs537363226	chr2:127415468-127415469	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs373994046	chr2:127415470-127415471	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs549963775	chr2:127415472-127415473	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs576407951	chr2:127415475-127415476	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs28387088	chr2:127415492-127415493	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs546011496	chr2:127415508-127415509	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs11894065	chr2:127415578-127415579	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572249519	chr2:127415610-127415611	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs541077418	chr2:127415620-127415621	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs535430883	chr2:127415624-127415625	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs192624082	chr2:127415640-127415641	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs578083882	chr2:127415653-127415654	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs544116283	chr2:127415659-127415660	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127412800-127416200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:127413000-127414800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr2:127413000-127416600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:127413000-127416800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:127413000-127417000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:127413200-127414800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:127413200-127414800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:127413200-127415000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:127413200-127415000	Active TSS	Aorta	Aorta
10	chr2:127413200-127415000	Active TSS	Ovary	ovary
11	chr2:127413200-127415200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:127413200-127415200	Active TSS	Brain Substantia Nigra	brain
13	chr2:127413200-127415400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:127413200-127415400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:127413200-127415400	Active TSS	Psoas Muscle	Psoas
16	chr2:127413200-127415800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:127413200-127415800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:127413200-127416000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:127413400-127414800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:127413400-127414800	Active TSS	Left Ventricle	heart
21	chr2:127413400-127414800	Active TSS	Lung	lung
22	chr2:127413400-127414800	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:127413400-127414800	Active TSS	Right Atrium	heart
24	chr2:127413400-127415000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:127413400-127415000	Active TSS	Brain Angular Gyrus	brain
26	chr2:127413400-127415000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:127413400-127415200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:127413400-127415200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:127413400-127415200	Active TSS	Colon Smooth Muscle	Colon
30	chr2:127413400-127415200	Active TSS	NHLF	lung
31	chr2:127413400-127415400	Active TSS	Brain Anterior Caudate	brain
32	chr2:127413400-127415400	Active TSS	Brain Hippocampus Middle	brain
33	chr2:127413400-127415400	Active TSS	Pancreas	Pancrea
34	chr2:127413400-127415400	Active TSS	Right Ventricle	heart
35	chr2:127413400-127415600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:127413400-127416200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:127413600-127414800	Active TSS	Primary B cells from peripheral blood	blood
38	chr2:127413600-127414800	Active TSS	Primary T cells fromperipheralblood	blood
39	chr2:127413600-127414800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:127413600-127414800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:127413600-127414800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:127413600-127414800	Active TSS	Esophagus	oesophagus
43	chr2:127413600-127414800	Active TSS	Small Intestine	intestine
44	chr2:127413600-127414800	Active TSS	Spleen	Spleen
45	chr2:127413600-127415000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:127413600-127415200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr2:127413600-127415200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:127413600-127415200	Active TSS	Gastric	stomach
49	chr2:127413600-127415400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:127413600-127415400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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