Variant report

Variant	nsv963356
Chromosome Location	chr3:121209023-121214901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:121212400-121212550	HFF	foreskin:	n/a	n/a
2	CTCF	chr3:121212400-121212550	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr3:121212420-121212570	AG10803	skin:	n/a	n/a
4	CTCF	chr3:121212460-121212610	WI-38	lung:	n/a	n/a
5	CTCF	chr3:121212324-121212630	IMR90	lung:	n/a	n/a
6	CTCF	chr3:121212405-121212555	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:121212300-121212450	HVMF	connective:	n/a	n/a
8	CTCF	chr3:121212400-121212550	AG04450	lung:	n/a	n/a
9	CTCF	chr3:121212400-121212550	HCT-116	colon:	n/a	n/a
10	CTCF	chr3:121212354-121212595	LNCaP	prostate:	n/a	n/a
11	CTCF	chr3:121212340-121212490	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr3:121212380-121212530	NHLF	lung:	n/a	n/a
13	CTCF	chr3:121212460-121212485	NHEK	skin:	n/a	n/a
14	CTCF	chr3:121212380-121212530	HCFaa	heart:	n/a	n/a
15	CTCF	chr3:121212420-121212570	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr3:121212320-121212470	HVMF	connective:	n/a	n/a
17	CTCF	chr3:121212380-121212530	AG09319	gingival:	n/a	n/a
18	CTCF	chr3:121212300-121212450	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:121212377-121212568	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:121212400-121212550	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr3:121212400-121212550	AG04449	skin:	n/a	n/a
22	CTCF	chr3:121212380-121212530	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr3:121212460-121212610	AG09309	skin:	n/a	n/a
24	CTCF	chr3:121212360-121212510	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:121212360-121212510	HAc	cerebellar:	n/a	n/a
26	CTCF	chr3:121212360-121212510	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr3:121212500-121212650	RPTEC	kidney:	n/a	n/a
28	CTCF	chr3:121212471-121212485	Medullo	brain:	n/a	n/a
29	CTCF	chr3:121212480-121212630	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr3:121212380-121212530	AG04450	lung:	n/a	n/a
31	CTCF	chr3:121212500-121212650	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr3:121212360-121212510	A549	lung:	n/a	n/a
33	CTCF	chr3:121212380-121212530	BJ	skin:	n/a	n/a
34	CTCF	chr3:121212405-121212503	GM12878	blood:	n/a	n/a
35	CTCF	chr3:121212420-121212570	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr3:121212380-121212530	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr3:121212380-121212565	LNCaP	prostate:	n/a	n/a
38	CTCF	chr3:121212387-121212504	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr3:121212438-121212538	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:121212417-121212528	Fibrobl	skin:	n/a	n/a
41	CTCF	chr3:121212380-121212530	AG10803	skin:	n/a	n/a
42	CTCF	chr3:121212444-121212515	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:121212397-121212539	ProgFib	skin:	n/a	n/a
44	CTCF	chr3:121212400-121212550	AG09319	gingival:	n/a	n/a
45	CTCF	chr3:121212340-121212490	HPF	lung:	n/a	n/a
46	CTCF	chr3:121212380-121212530	BE2_C	brain:	n/a	n/a
47	CTCF	chr3:121212360-121212510	NHEK	skin:	n/a	n/a
48	CTCF	chr3:121212440-121212590	HMF	breast:	n/a	n/a
49	CTCF	chr3:121212400-121212550	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr3:121212420-121212570	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:121150437..121151324-chr3:121212003..121212905,2	MCF-7	breast:
2	chr3:121210505..121212714-chr3:121217216..121218928,2	K562	blood:
3	chr3:121205722..121207237-chr3:121210537..121212477,2	K562	blood:

No data

Variant related genes	Relation type
RPL7AP11	TF binding region

Extended variants
information (count: 238 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:238 , 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	rs149007312	chr3:121209029-121209030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573433501	chr3:121209040-121209041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143795781	chr3:121209041-121209042	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145048812	chr3:121209142-121209143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374232635	chr3:121209188-121209189	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368236641	chr3:121209194-121209195	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200486636	chr3:121209212-121209213	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141214608	chr3:121209243-121209244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199542656	chr3:121209245-121209246	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201415262	chr3:121209246-121209247	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200494613	chr3:121209284-121209285	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180952575	chr3:121209291-121209292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367642752	chr3:121209300-121209301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550786556	chr3:121209340-121209341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567459415	chr3:121209343-121209344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186108737	chr3:121209346-121209347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3218629	chr3:121209373-121209374	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568252710	chr3:121209509-121209510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192268596	chr3:121209619-121209620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574786501	chr3:121209623-121209624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539038370	chr3:121209626-121209627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs507353	chr3:121209627-121209628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148690965	chr3:121209676-121209677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11711667	chr3:121209771-121209772	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554780871	chr3:121209810-121209811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142244120	chr3:121209821-121209822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540390550	chr3:121209828-121209829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61796946	chr3:121209925-121209926	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572578339	chr3:121210025-121210026	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545017971	chr3:121210029-121210030	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs564712237	chr3:121210030-121210031	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs530876665	chr3:121210043-121210044	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs151033315	chr3:121210056-121210057	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs561119932	chr3:121210057-121210058	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529924640	chr3:121210071-121210072	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs35501854	chr3:121210129-121210130	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs566991463	chr3:121210156-121210157	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs553487694	chr3:121210183-121210184	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs3045625	chr3:121210216-121210217	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143759129	chr3:121210217-121210218	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs61003016	chr3:121210218-121210219	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374496936	chr3:121210219-121210220	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373431400	chr3:121210229-121210230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183373910	chr3:121210263-121210264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545522787	chr3:121210382-121210383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552573730	chr3:121210402-121210403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569144854	chr3:121210404-121210405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370823258	chr3:121210538-121210539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554854649	chr3:121210539-121210540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532464	chr3:121210572-121210573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121176400-121214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:121176400-121224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:121177800-121214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:121181000-121219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:121183800-121234400	Weak transcription	Primary B cells from cord blood	blood
9	chr3:121186400-121255600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:121186600-121211600	Weak transcription	Primary T cells from cord blood	blood
11	chr3:121186800-121213000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:121187000-121209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:121187200-121223400	Weak transcription	Fetal Intestine Large	intestine
14	chr3:121192200-121233600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:121193000-121212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:121193200-121237000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:121195600-121233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:121197200-121217400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:121197200-121233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:121198800-121210000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:121199200-121216200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:121199800-121213200	Weak transcription	Fetal Stomach	stomach
23	chr3:121200400-121222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:121201000-121227000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:121201000-121250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:121202400-121215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:121202400-121263200	Weak transcription	NHLF	lung
29	chr3:121202400-121263800	Weak transcription	HSMM	muscle
30	chr3:121202600-121209600	Weak transcription	Osteobl	bone
31	chr3:121202600-121214400	Weak transcription	NH-A	brain
32	chr3:121202600-121233400	Weak transcription	NHEK	skin
33	chr3:121202800-121236600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:121206000-121213200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:121206000-121217800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:121206200-121210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:121206200-121213400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:121206200-121216200	Strong transcription	Dnd41	blood
39	chr3:121206200-121216800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:121206400-121209600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:121206600-121213600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:121206600-121216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:121206800-121211200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:121207000-121209400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr3:121207000-121210600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr3:121207000-121213000	Strong transcription	A549	lung
47	chr3:121207200-121233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:121207400-121210000	Strong transcription	Fetal Thymus	thymus
49	chr3:121207400-121211200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:121207600-121209600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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