Variant report

Variant	rs7301450
Chromosome Location	chr12:104982947-104982948
allele	A/G
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	JUND	chr12:104982489-104983211	K562	blood:	n/a	n/a
2	JUND	chr12:104981829-104983032	HCT-116	colon:	n/a	chr12:104982275-104982283
3	STAT3	chr12:104982139-104983009	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL1	chr12:104981892-104983122	HCT-116	colon:	n/a	chr12:104982275-104982283
5	SP1	chr12:104981858-104982972	HCT-116	colon:	n/a	n/a
6	GATA3	chr12:104981835-104983039	A549	lung:	n/a	chr12:104982407-104982414
7	SP1	chr12:104981844-104983353	A549	lung:	n/a	n/a
8	JUN	chr12:104982588-104983221	K562	blood:	n/a	n/a
9	RCOR1	chr12:104982485-104983273	K562	blood:	n/a	n/a
10	CEBPB	chr12:104981964-104982968	HCT-116	colon:	n/a	n/a
11	HDAC2	chr12:104982898-104983205	K562	blood:	n/a	n/a
12	FOSL1	chr12:104981823-104983068	HCT-116	colon:	n/a	chr12:104982275-104982283
13	FOSL2	chr12:104981777-104983000	A549	lung:	n/a	chr12:104982275-104982283
14	SP1	chr12:104981844-104983014	HCT-116	colon:	n/a	n/a
15	GATA1	chr12:104982888-104983415	PBDE	blood:	n/a	n/a
16	ZNF384	chr12:104982925-104983450	K562	blood:	n/a	n/a

Variant related genes	Relation type
MIR3922	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10778341	0.92[EUR][1000 genomes]
rs10861239	0.90[EUR][1000 genomes]
rs10861240	0.90[EUR][1000 genomes]
rs10861241	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861242	0.92[EUR][1000 genomes]
rs10861243	0.92[EUR][1000 genomes]
rs10861244	0.92[EUR][1000 genomes]
rs10861245	0.92[EUR][1000 genomes]
rs10861246	0.89[EUR][1000 genomes]
rs10861248	0.92[EUR][1000 genomes]
rs11112118	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112119	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112120	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112121	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112122	0.90[EUR][1000 genomes]
rs11112123	0.92[EUR][1000 genomes]
rs11112124	0.92[EUR][1000 genomes]
rs11112125	0.92[EUR][1000 genomes]
rs11112126	0.92[EUR][1000 genomes]
rs11112127	0.92[EUR][1000 genomes]
rs11610583	0.92[EUR][1000 genomes]
rs1529423	0.91[EUR][1000 genomes]
rs1529424	0.92[EUR][1000 genomes]
rs1650139	0.97[ASN][1000 genomes]
rs1650142	0.97[ASN][1000 genomes]
rs17035902	0.94[EUR][1000 genomes]
rs1704888	0.97[ASN][1000 genomes]
rs17813400	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61938575	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6539161	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7301126	0.92[EUR][1000 genomes]
rs7306538	0.92[EUR][1000 genomes]
rs7306664	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73187418	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73187426	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73187427	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73187429	0.81[EUR][1000 genomes]
rs7954025	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7954312	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7979531	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104971000-104990600	Weak transcription	Lung	lung
2	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
3	chr12:104973800-104990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104974400-104984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:104974600-104987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:104974600-104988800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:104974600-104990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:104975000-104988800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:104975600-104988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104975600-104992000	Weak transcription	Gastric	stomach
11	chr12:104976000-104987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:104976800-104996800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:104977200-104987200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:104978000-104989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:104978400-104989600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:104979000-104986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:104980200-104989200	Weak transcription	Fetal Thymus	thymus
18	chr12:104980200-104989800	Weak transcription	Aorta	Aorta
19	chr12:104980200-104997600	Weak transcription	Esophagus	oesophagus
20	chr12:104980600-104985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:104980600-104990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:104981000-104985400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104981400-104988600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:104981800-104983000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:104981800-104983000	Enhancers	NHLF	lung
26	chr12:104981800-104983200	Flanking Active TSS	NHEK	skin
27	chr12:104981800-104983400	Flanking Active TSS	A549	lung
28	chr12:104982000-104983000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:104982000-104983000	Enhancers	Placenta	Placenta
30	chr12:104982000-104983600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:104982000-104985400	Enhancers	K562	blood
32	chr12:104982200-104983000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:104982200-104983000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:104982200-104983000	Strong transcription	GM12878-XiMat	blood
35	chr12:104982200-104983200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:104982200-104983200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:104982400-104983000	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr12:104982400-104983200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:104982400-104983200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:104982400-104989800	Weak transcription	Fetal Heart	heart
41	chr12:104982600-104983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:104982600-104983000	Enhancers	HUVEC	blood vessel
43	chr12:104982600-104983000	Enhancers	NH-A	brain
44	chr12:104982600-104983000	Enhancers	Osteobl	bone
45	chr12:104982600-104983200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:104982600-104983200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:104982600-104984400	Weak transcription	Right Atrium	heart
48	chr12:104982600-104985000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:104982600-104986800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:104982600-104994800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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