Variant report

Variant	nsv979075
Chromosome Location	chr2:101206411-101214803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:101213052-101213269	HepG2	liver:	n/a	n/a
2	BRCA1	chr2:101211450-101211639	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr2:101206084-101206439	K562	blood:	n/a	n/a
4	CEBPB	chr2:101211368-101211688	A549	lung:	n/a	chr2:101211599-101211610
5	CEBPB	chr2:101211448-101211773	HepG2	liver:	n/a	chr2:101211599-101211610
6	CEBPB	chr2:101211400-101211773	Hela-S3	cervix:	n/a	chr2:101211599-101211610
7	CEBPB	chr2:101211260-101211669	A549	lung:	n/a	chr2:101211599-101211610
8	CEBPB	chr2:101211307-101211691	MCF-7	breast:	n/a	chr2:101211599-101211610
9	CEBPB	chr2:101211430-101211656	HepG2	liver:	n/a	chr2:101211599-101211610
10	CEBPB	chr2:101211424-101211739	K562	blood:	n/a	chr2:101211599-101211610
11	CEBPB	chr2:101211448-101211723	H1-hESC	embryonic stem cell:	n/a	chr2:101211599-101211610
12	CEBPB	chr2:101211407-101211775	A549	lung:	n/a	chr2:101211599-101211610
13	CEBPB	chr2:101211440-101211746	HepG2	liver:	n/a	chr2:101211599-101211610
14	CEBPB	chr2:101211449-101211767	IMR90	lung:	n/a	chr2:101211599-101211610
15	CEBPB	chr2:101211390-101211695	K562	blood:	n/a	chr2:101211599-101211610
16	CHD1	chr2:101211162-101211234	GM12878	blood:	n/a	n/a
17	CTCF	chr2:101211400-101211550	HCM	heart:	n/a	n/a
18	CTCF	chr2:101211420-101211570	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr2:101211361-101211700	K562	blood:	n/a	n/a
20	CTCF	chr2:101211440-101211590	HRE	kidney:	n/a	n/a
21	CTCF	chr2:101211420-101211570	HRE	kidney:	n/a	n/a
22	CTCF	chr2:101211440-101211590	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr2:101211400-101211550	HCFaa	heart:	n/a	n/a
24	CTCF	chr2:101211400-101211550	BE2_C	brain:	n/a	n/a
25	CTCF	chr2:101211420-101211570	GM12865	blood:	n/a	n/a
26	CTCF	chr2:101211420-101211570	HMF	breast:	n/a	n/a
27	CTCF	chr2:101211163-101211223	GM10266	blood:	n/a	n/a
28	CTCF	chr2:101211440-101211590	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr2:101211341-101211639	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:101211390-101211576	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr2:101211488-101211607	GM12892	blood:	n/a	n/a
32	CTCF	chr2:101211481-101211606	GM19240	blood:	n/a	n/a
33	CTCF	chr2:101211460-101211610	HAc	cerebellar:	n/a	n/a
34	CTCF	chr2:101211400-101211550	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr2:101211460-101211610	GM12872	blood:	n/a	n/a
36	CTCF	chr2:101211380-101211530	AG09319	gingival:	n/a	n/a
37	CTCF	chr2:101211355-101211660	HepG2	liver:	n/a	n/a
38	CTCF	chr2:101211267-101211640	HepG2	liver:	n/a	n/a
39	CTCF	chr2:101211462-101211552	GM19239	blood:	n/a	n/a
40	CTCF	chr2:101211440-101211590	SAEC	small airway:	n/a	n/a
41	CTCF	chr2:101211440-101211590	GM06990	blood:	n/a	n/a
42	CTCF	chr2:101211420-101211570	GM12868	blood:	n/a	n/a
43	CTCF	chr2:101211440-101211590	AG04449	skin:	n/a	n/a
44	CTCF	chr2:101211420-101211570	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr2:101211413-101211622	Lung_OC	lung:	n/a	n/a
46	CTCF	chr2:101211440-101211590	GM12878	blood:	n/a	n/a
47	CTCF	chr2:101211420-101211570	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:101211306-101211668	K562	blood:	n/a	n/a
49	CTCF	chr2:101211400-101211550	GM12872	blood:	n/a	n/a
50	CTCF	chr2:101211420-101211570	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:101210988..101213678-chr2:101624507..101626438,2	MCF-7	breast:
2	chr2:101207617..101209780-chr2:101214219..101216836,2	K562	blood:
3	chr2:101038896..101039396-chr2:101211447..101211984,2	MCF-7	breast:
4	chr2:101177919..101180884-chr2:101209656..101211995,4	MCF-7	breast:
5	chr2:101214600..101216504-chr2:101618839..101621508,3	MCF-7	breast:

Variant related genes	Relation type
HMGN2P22	TF binding region
RN7SL360P	TF binding region
ENSG00000071082	chromatin interactions
ENSG00000227259	chromatin interactions
ENSG00000115539	chromatin interactions

Extended variants
information (count: 382 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568177933	chr2:101206459-101206460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62152478	chr2:101206471-101206472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200834185	chr2:101206483-101206484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145269991	chr2:101206488-101206489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13033827	chr2:101206550-101206551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553419415	chr2:101206571-101206572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570125526	chr2:101206640-101206641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187436171	chr2:101206647-101206648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145004648	chr2:101206683-101206684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576248523	chr2:101206712-101206713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202146993	chr2:101206718-101206719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190371717	chr2:101206743-101206744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573358507	chr2:101206746-101206747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555249849	chr2:101206753-101206754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183226034	chr2:101206762-101206763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542020610	chr2:101206800-101206801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560530456	chr2:101206813-101206814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574747500	chr2:101206856-101206857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532551866	chr2:101206891-101206892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560781690	chr2:101206916-101206917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545872277	chr2:101206938-101206939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187807871	chr2:101206957-101206958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149095714	chr2:101206999-101207000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192739735	chr2:101207002-101207003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34774067	chr2:101207022-101207023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527839701	chr2:101207028-101207029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547095824	chr2:101207086-101207087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112674561	chr2:101207091-101207092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55675417	chr2:101207094-101207095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78438063	chr2:101207171-101207172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184174373	chr2:101207214-101207215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569963047	chr2:101207224-101207225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535406226	chr2:101207241-101207242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187848990	chr2:101207261-101207262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572278380	chr2:101207269-101207270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534761632	chr2:101207347-101207348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554352620	chr2:101207348-101207349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35658386	chr2:101207402-101207403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546210520	chr2:101207414-101207415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192412038	chr2:101207416-101207417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184460117	chr2:101207440-101207441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542169981	chr2:101207472-101207473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377224646	chr2:101207481-101207482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567713757	chr2:101207485-101207486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149715211	chr2:101207504-101207505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527927575	chr2:101207547-101207548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76916883	chr2:101207600-101207601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10178293	chr2:101207639-101207640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563872733	chr2:101207643-101207644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373658668	chr2:101207652-101207653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101202000-101210200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:101202000-101210600	Weak transcription	Primary T cells from cord blood	blood
3	chr2:101205000-101210600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:101205200-101210000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:101205200-101211000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:101205800-101210200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:101205800-101210400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:101206400-101206600	Weak transcription	Spleen	Spleen
9	chr2:101207600-101208400	Weak transcription	HSMM	muscle
10	chr2:101208200-101208400	Enhancers	Spleen	Spleen
11	chr2:101208600-101209000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:101208600-101209000	Enhancers	HSMM	muscle
13	chr2:101210000-101211600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:101210000-101212000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:101210200-101211400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:101210200-101211800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:101210400-101212000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:101210400-101231800	Weak transcription	Right Atrium	heart
19	chr2:101210600-101211400	Enhancers	Primary T cells from cord blood	blood
20	chr2:101210600-101211600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:101210800-101211200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:101210800-101211600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:101211000-101211200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:101211200-101211800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:101211400-101211600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:101211600-101220000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:101211800-101212000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:101213200-101213600	Enhancers	HepG2	liver
29	chr2:101213600-101215800	Weak transcription	HepG2	liver

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