Variant report

Variant	nsv979147
Chromosome Location	chr2:172227772-172232665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:172229899-172229970	GM10248	blood:	n/a	n/a
2	CTCF	chr2:172229567-172229598	GM10248	blood:	n/a	n/a
3	FOS	chr2:172232596-172232707	MCF10A-Er-Src	breast:	n/a	chr2:172232644-172232651 chr2:172232643-172232651 chr2:172232642-172232652
4	FOS	chr2:172232614-172232627	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:172231608-172231641	Gliobla	brain:	n/a	n/a
6	POLR2A	chr2:172231720-172231731	A549	lung:	n/a	n/a
7	POLR2A	chr2:172228045-172228055	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172231706-172231756	AG09309	skin:	n/a
2	chr2:172231724-172231774	AG09319	gingival:	n/a
3	chr2:172231706-172231756	RPTEC	kidney:	n/a
4	chr2:172231724-172231774	SK-N-SH_RA	brain:	n/a
5	chr2:172231706-172231756	BE2_C	brain:	n/a
6	chr2:172231706-172231756	HAEpiC	amniotic membrane:	n/a
7	chr2:172231706-172231756	PANC-1	pancreas:	n/a
8	chr2:172231724-172231774	T-47D	breast:	n/a
9	chr2:172231724-172231774	HUVEC	blood vessel:	n/a
10	chr2:172231706-172231756	HRPEpiC	eye:	n/a
11	chr2:172231706-172231756	U87	brain:	n/a
12	chr2:172231706-172231756	Hela-S3	cervix:	n/a
13	chr2:172231724-172231774	SK-N-SH	brain:	n/a
14	chr2:172231706-172231756	NHBE	bronchial:	n/a
15	chr2:172231724-172231774	AoSMC	blood vessel:	n/a
16	chr2:172231706-172231756	HUVEC	blood vessel:	n/a
17	chr2:172231724-172231774	Hela-S3	cervix:	n/a
18	chr2:172231706-172231756	ECC-1	luminal epithelium:	n/a
19	chr2:172231724-172231774	HRE	kidney:	n/a
20	chr2:172231724-172231774	HCF	heart:	n/a
21	chr2:172231724-172231774	AG10803	skin:	n/a
22	chr2:172231724-172231774	GM12878	blood:	n/a
23	chr2:172231706-172231756	ProgFib	skin:	n/a
24	chr2:172231706-172231756	MCF-7	breast:	n/a
25	chr2:172231724-172231774	BJ	skin:	n/a
26	chr2:172231706-172231756	GM19239	blood:	n/a
27	chr2:172231706-172231756	HMEC	breast:	n/a
28	chr2:172231724-172231774	SK-N-MC	brain:	n/a
29	chr2:172231706-172231756	SK-N-MC	brain:	n/a
30	chr2:172231724-172231774	SKMC	muscle:	n/a
31	chr2:172231706-172231756	SKMC	muscle:	n/a
32	chr2:172231706-172231756	HIPEpiC	eye:	n/a
33	chr2:172231724-172231774	NH-A	brain:	n/a
34	chr2:172231724-172231774	HCPEpiC	choroid plexus:	n/a
35	chr2:172231706-172231756	PrEC	prostate:	n/a
36	chr2:172231706-172231756	SK-N-SH_RA	brain:	n/a
37	chr2:172231706-172231756	PFSK-1	brain:	n/a
38	chr2:172231724-172231774	CMK	blood:	n/a
39	chr2:172231724-172231774	MCF-7	breast:	n/a
40	chr2:172231724-172231774	LNCaP	prostate:	n/a
41	chr2:172231724-172231774	HMEC	breast:	n/a
42	chr2:172231706-172231756	LNCaP	prostate:	n/a
43	chr2:172231706-172231756	HRE	kidney:	n/a
44	chr2:172231724-172231774	AG04449	skin:	fetal
45	chr2:172231724-172231774	HL-60	blood:	n/a
46	chr2:172231724-172231774	GM12891	blood:	n/a
47	chr2:172231706-172231756	H1-hESC	embryonic stem cell:	embryo
48	chr2:172231706-172231756	HCPEpiC	choroid plexus:	n/a
49	chr2:172231724-172231774	SAEC	small airway:	n/a
50	chr2:172231724-172231774	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:172226966..172228845-chr2:172231909..172233652,2	K562	blood:
2	chr2:172226966..172228845-chr2:172231909..172233652,2	K562	blood:
3	chr2:172226142..172229101-chr2:172289900..172293776,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224553	TF binding region
ENSG00000224553	CpG island
ENSG00000123600	chromatin interactions
ENSG00000115827	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:210 , 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	rs190281070	chr2:172227816-172227817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555455001	chr2:172227821-172227822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576364174	chr2:172227830-172227831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573814515	chr2:172227832-172227833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200012855	chr2:172227842-172227843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541002400	chr2:172227899-172227900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544969353	chr2:172227936-172227937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141376637	chr2:172227953-172227954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150375632	chr2:172227971-172227972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545295203	chr2:172227980-172227981	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182801549	chr2:172227983-172227984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188506164	chr2:172227993-172227994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542494826	chr2:172227999-172228000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs193227494	chr2:172228065-172228066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183906970	chr2:172228087-172228088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187726679	chr2:172228094-172228095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571319292	chr2:172228172-172228173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191402406	chr2:172228219-172228220	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551276638	chr2:172228263-172228264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569318249	chr2:172228281-172228282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531096534	chr2:172228334-172228335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536837012	chr2:172228336-172228337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147591487	chr2:172228347-172228348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201638545	chr2:172228352-172228353	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78000123	chr2:172228375-172228376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4027587	chr2:172228376-172228377	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs5836335	chr2:172228378-172228379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113493968	chr2:172228379-172228380	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548524707	chr2:172228464-172228465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183963273	chr2:172228494-172228495	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115333032	chr2:172228517-172228518	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561020005	chr2:172228544-172228545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552962519	chr2:172228552-172228553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112518662	chr2:172228557-172228558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562300573	chr2:172228615-172228616	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577737554	chr2:172228668-172228669	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188592969	chr2:172228694-172228695	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11694321	chr2:172228743-172228744	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs191893446	chr2:172228785-172228786	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs11677795	chr2:172228808-172228809	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs560789220	chr2:172228809-172228810	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs137951379	chr2:172228869-172228870	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540333059	chr2:172228870-172228871	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566353610	chr2:172228873-172228874	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs17285639	chr2:172228937-172228938	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546288048	chr2:172228989-172228990	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376069568	chr2:172228990-172228991	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564803153	chr2:172229013-172229014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550732406	chr2:172229025-172229026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377635081	chr2:172229070-172229071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Cancer	20164919	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
Pancreatic cancer	17952125	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
3	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:172216400-172231400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172217200-172231400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:172222200-172289600	Weak transcription	Gastric	stomach
9	chr2:172222400-172240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:172222800-172230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:172223000-172235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:172223000-172242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:172224200-172228000	Weak transcription	Right Atrium	heart
14	chr2:172225800-172231600	Weak transcription	Liver	Liver
15	chr2:172228600-172229000	ZNF genes & repeats	GM12878-XiMat	blood
16	chr2:172229000-172230600	Weak transcription	GM12878-XiMat	blood
17	chr2:172229400-172246800	Weak transcription	NH-A	brain
18	chr2:172230400-172231800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:172230600-172233000	ZNF genes & repeats	GM12878-XiMat	blood
20	chr2:172231000-172232200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:172231400-172231800	ZNF genes & repeats	Esophagus	oesophagus
22	chr2:172231400-172231800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:172231400-172232000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:172231400-172232600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr2:172231400-172233200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:172231400-172248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:172231600-172231800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:172231600-172231800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:172231600-172231800	ZNF genes & repeats	Liver	Liver
30	chr2:172231600-172232000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:172231600-172232200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr2:172231600-172232800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr2:172231800-172232000	Weak transcription	Liver	Liver
34	chr2:172231800-172239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:172231800-172240800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:172231800-172243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:172231800-172248200	Weak transcription	Esophagus	oesophagus
38	chr2:172232000-172232200	Strong transcription	Liver	Liver
39	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:172232200-172232400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:172232200-172238800	Weak transcription	Liver	Liver
42	chr2:172232200-172242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:172232400-172232600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr2:172232600-172232800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:172232600-172242000	Weak transcription	H1 Cell Line	embryonic stem cell

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