Variant report

Variant	nsv961843
Chromosome Location	chr2:99916605-99924549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:307)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:99916880-99917030	HepG2	liver:	n/a	n/a
2	CTCF	chr2:99923334-99923356	LNCaP	prostate:	n/a	n/a
3	CTCF	chr2:99916904-99916996	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr2:99916716-99916755	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr2:99917766-99917941	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr2:99923495-99923636	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr2:99923316-99923328	LNCaP	prostate:	n/a	n/a
8	CTCF	chr2:99916840-99916990	RPTEC	kidney:	n/a	n/a
9	CTCF	chr2:99917439-99917521	GM13976	blood:	n/a	n/a
10	CTCF	chr2:99923592-99923639	Lung_OC	lung:	n/a	n/a
11	CTCF	chr2:99924014-99924061	GM13976	blood:	n/a	n/a
12	CTCF	chr2:99921050-99921066	GM20000	blood:	n/a	n/a
13	POLR2A	chr2:99921814-99921845	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:99923399-99923550	K562	blood:	n/a	n/a
15	POLR2A	chr2:99917057-99917285	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr2:99917740-99917837	GM12878	blood:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99918042-99918092	GM12892	blood:	n/a
2	chr2:99918664-99918714	NH-A	brain:	n/a
3	chr2:99918042-99918092	GM12892	blood:	n/a
4	chr2:99918664-99918714	NH-A	brain:	n/a
5	chr2:99917669-99917719	AoSMC	blood vessel:	n/a
6	chr2:99917669-99917719	CMK	blood:	n/a
7	chr2:99917669-99917719	HCT-116	colon:	n/a
8	chr2:99918603-99918653	Jurkat	blood:	n/a
9	chr2:99918664-99918714	K562	blood:	n/a
10	chr2:99917669-99917719	AG09309	skin:	n/a
11	chr2:99918042-99918092	RPTEC	kidney:	n/a
12	chr2:99918042-99918092	Jurkat	blood:	n/a
13	chr2:99917669-99917719	HRE	kidney:	n/a
14	chr2:99918603-99918653	GM06990	blood:	n/a
15	chr2:99918767-99918817	HRE	kidney:	n/a
16	chr2:99918767-99918817	AG09309	skin:	n/a
17	chr2:99917669-99917719	PFSK-1	brain:	n/a
18	chr2:99918603-99918653	GM12891	blood:	n/a
19	chr2:99918767-99918817	T-47D	breast:	n/a
20	chr2:99918042-99918092	HCF	heart:	n/a
21	chr2:99918603-99918653	HCT-116	colon:	n/a
22	chr2:99918603-99918653	SAEC	small airway:	n/a
23	chr2:99918767-99918817	ProgFib	skin:	n/a
24	chr2:99918603-99918653	AG10803	skin:	n/a
25	chr2:99917669-99917719	U87	brain:	n/a
26	chr2:99918042-99918092	AG04450	lung:	fetal
27	chr2:99918664-99918714	HCT-116	colon:	n/a
28	chr2:99918767-99918817	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:99918664-99918714	HRCEpiC	kidney:	n/a
30	chr2:99917669-99917719	HEK293	kidney:	embryo
31	chr2:99918664-99918714	HAEpiC	amniotic membrane:	n/a
32	chr2:99918664-99918714	Hepatocyte	liver:	n/a
33	chr2:99918767-99918817	SKMC	muscle:	n/a
34	chr2:99917669-99917719	GM19239	blood:	n/a
35	chr2:99918767-99918817	AoSMC	blood vessel:	n/a
36	chr2:99917669-99917719	GM12891	blood:	n/a
37	chr2:99918767-99918817	HL-60	blood:	n/a
38	chr2:99918042-99918092	H1-hESC	embryonic stem cell:	embryo
39	chr2:99918767-99918817	HAEpiC	amniotic membrane:	n/a
40	chr2:99918603-99918653	T-47D	breast:	n/a
41	chr2:99918767-99918817	BJ	skin:	n/a
42	chr2:99917669-99917719	AG10803	skin:	n/a
43	chr2:99918767-99918817	PrEC	prostate:	n/a
44	chr2:99918603-99918653	LNCaP	prostate:	n/a
45	chr2:99918603-99918653	IMR90	lung:	fetal
46	chr2:99918664-99918714	HMEC	breast:	n/a
47	chr2:99918042-99918092	GM06990	blood:	n/a
48	chr2:99918042-99918092	HEEpiC	esophagus:	n/a
49	chr2:99917669-99917719	SK-N-SH	brain:	n/a
50	chr2:99918042-99918092	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:99918821..99920555-chr2:99920714..99922754,2	MCF-7	breast:
2	chr2:99771253..99773056-chr2:99921350..99922897,2	K562	blood:
3	chr2:99919697..99922118-chr2:99951528..99953553,2	K562	blood:

No data

Variant related genes	Relation type
C2orf15	TF binding region
LYG1	TF binding region
C2orf15	CpG island
LYG1	CpG island
ENSG00000144182	chromatin interactions
ENSG00000135951	chromatin interactions
ENSG00000144214	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000273155	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572930080	chr2:99916620-99916621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538859825	chr2:99916621-99916622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558881486	chr2:99916623-99916624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575657409	chr2:99916628-99916629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146670752	chr2:99916654-99916655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563682415	chr2:99916664-99916665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574045996	chr2:99916803-99916804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542779405	chr2:99916834-99916835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201180281	chr2:99916872-99916873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549065622	chr2:99916888-99916889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561324901	chr2:99916893-99916894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528663865	chr2:99916907-99916908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545240281	chr2:99916920-99916921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140380588	chr2:99916942-99916943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71413823	chr2:99916960-99916961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137983828	chr2:99916985-99916986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184925247	chr2:99916986-99916987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567170459	chr2:99916994-99916995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189303692	chr2:99917006-99917007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374234953	chr2:99917075-99917076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546360827	chr2:99917212-99917213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566600943	chr2:99917294-99917295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538452625	chr2:99917393-99917394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546668070	chr2:99917624-99917625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114685721	chr2:99917655-99917656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558789685	chr2:99917669-99917670	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs114375078	chr2:99917679-99917680	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs538153642	chr2:99917691-99917692	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs532142130	chr2:99917694-99917695	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs58206803	chr2:99917729-99917730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs369392626	chr2:99917730-99917731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536559178	chr2:99917824-99917825	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369907048	chr2:99917888-99917889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554610804	chr2:99917940-99917941	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200709938	chr2:99917945-99917946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200220818	chr2:99917948-99917949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374513599	chr2:99917973-99917974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374967553	chr2:99917974-99917975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573932212	chr2:99918042-99918043	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs543044605	chr2:99918076-99918077	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs74177686	chr2:99918077-99918078	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs573287505	chr2:99918100-99918101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10688800	chr2:99918180-99918181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545154844	chr2:99918184-99918185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386390718	chr2:99918189-99918190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398104537	chr2:99918190-99918191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565150420	chr2:99918250-99918251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531079970	chr2:99918254-99918255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544481511	chr2:99918314-99918315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561659612	chr2:99918341-99918342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99879000-99933600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:99892400-99918600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:99892400-99935000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:99894200-99934800	Weak transcription	Gastric	stomach
5	chr2:99895400-99935000	Weak transcription	Pancreas	Pancrea
6	chr2:99895800-99921000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:99895800-99933600	Weak transcription	HSMM	muscle
8	chr2:99895800-99933600	Weak transcription	HSMMtube	muscle
9	chr2:99896800-99933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:99897000-99918400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:99897000-99933600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:99897200-99918400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:99897200-99933800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:99897400-99933800	Weak transcription	HepG2	liver
15	chr2:99897600-99918800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:99898200-99918800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:99898200-99934000	Weak transcription	Small Intestine	intestine
18	chr2:99898400-99938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:99898600-99933800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:99899200-99918400	Weak transcription	Spleen	Spleen
21	chr2:99899400-99918600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:99899400-99933800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:99899600-99918600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:99899600-99933000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:99899800-99935000	Weak transcription	Esophagus	oesophagus
26	chr2:99900000-99933600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:99900400-99933800	Weak transcription	Colonic Mucosa	Colon
28	chr2:99901000-99918600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:99901200-99933400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:99901200-99936600	Weak transcription	Fetal Brain Male	brain
31	chr2:99901400-99918400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:99901400-99918800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:99901400-99922800	Weak transcription	Ovary	ovary
34	chr2:99901600-99918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:99901600-99918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:99901600-99918600	Weak transcription	Psoas Muscle	Psoas
37	chr2:99901600-99918600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:99901600-99919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:99901600-99933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:99901600-99933600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:99901600-99933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:99901600-99933800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:99901600-99933800	Weak transcription	Fetal Intestine Large	intestine
44	chr2:99901600-99941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:99901800-99918400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:99901800-99918600	Weak transcription	Fetal Stomach	stomach
47	chr2:99901800-99919000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:99902200-99918400	Weak transcription	Dnd41	blood
49	chr2:99902800-99918600	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:99907600-99918400	Weak transcription	Right Ventricle	heart

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