Variant report

Variant	rs7307721
Chromosome Location	chr12:10518280-10518281
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	STAT1	chr12:10518197-10518452	GM12878	blood:	n/a	n/a
2	CHD2	chr12:10517449-10518385	Hela-S3	cervix:	n/a	n/a
3	FOXA1	chr12:10518052-10518417	T-47D	breast:	n/a	n/a
4	MAX	chr12:10517158-10518411	Hela-S3	cervix:	n/a	n/a
5	TCF7L2	chr12:10517374-10518553	PANC-1	pancreas:	n/a	n/a
6	IRF1	chr12:10515959-10518392	K562	blood:	n/a	chr12:10517695-10517716
7	FOXA1	chr12:10518106-10518531	HepG2	liver:	n/a	n/a
8	FOXA2	chr12:10518101-10518622	A549	lung:	n/a	n/a
9	TCF7L2	chr12:10517720-10518393	HEK293	kidney:	n/a	n/a
10	ZNF263	chr12:10516212-10518416	HEK293-T-REx	kidney:	n/a	n/a
11	FOXA2	chr12:10518269-10518530	HepG2	liver:	n/a	n/a
12	MAX	chr12:10517413-10518280	HCT-116	colon:	n/a	n/a
13	POLR2A	chr12:10516177-10518391	GM12878	blood:	n/a	n/a
14	WRNIP1	chr12:10516761-10518577	GM12878	blood:	n/a	n/a
15	GATA3	chr12:10518038-10518378	T-47D	breast:	n/a	n/a
16	GTF2F1	chr12:10516680-10518433	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr12:10517590-10518372	Hela-S3	cervix:	n/a	n/a
18	TCF7L2	chr12:10516798-10518558	HCT-116	colon:	n/a	n/a
19	SMC3	chr12:10516780-10518363	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:10518105-10518709	Hela-S3	cervix:	n/a	n/a
21	FOXA1	chr12:10518152-10518561	HepG2	liver:	n/a	n/a
22	KAP1	chr12:10515697-10518370	U2OS	brain:	n/a	n/a
23	POLR2A	chr12:10516361-10518435	Hela-S3	cervix:	n/a	n/a
24	FOXA1	chr12:10518078-10518389	T-47D	breast:	n/a	n/a
25	UBTF	chr12:10517887-10518406	K562	blood:	n/a	n/a
26	IRF1	chr12:10515759-10518375	K562	blood:	n/a	chr12:10517695-10517716
27	GATA3	chr12:10518071-10518317	T-47D	breast:	n/a	n/a
28	KAP1	chr12:10516008-10519102	HEK293	kidney:	n/a	n/a
29	POLR2A	chr12:10516255-10518629	GM12891	blood:	n/a	n/a
30	RFX5	chr12:10518237-10518382	GM12878	blood:	n/a	n/a
31	TCF12	chr12:10517587-10518389	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000256155	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10743888	0.87[EUR][1000 genomes]
rs10743889	0.86[EUR][1000 genomes]
rs1382264	0.88[EUR][1000 genomes]
rs1382265	0.90[EUR][1000 genomes]
rs1478309	0.88[EUR][1000 genomes]
rs1478310	0.88[EUR][1000 genomes]
rs1600127	0.90[EUR][1000 genomes]
rs2045876	0.88[EUR][1000 genomes]
rs2100923	0.86[EUR][1000 genomes]
rs2126888	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126889	0.90[EUR][1000 genomes]
rs2246809	0.86[EUR][1000 genomes]
rs2255336	0.90[EUR][1000 genomes]
rs2255353	0.90[EUR][1000 genomes]
rs2255364	0.90[EUR][1000 genomes]
rs2417734	0.90[EUR][1000 genomes]
rs2617151	0.90[EUR][1000 genomes]
rs2617152	0.90[EUR][1000 genomes]
rs2617156	0.90[EUR][1000 genomes]
rs2617157	0.90[EUR][1000 genomes]
rs2617169	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2617172	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733840	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2733845	0.88[EUR][1000 genomes]
rs2733847	0.90[EUR][1000 genomes]
rs2733848	0.84[EUR][1000 genomes]
rs2733853	0.84[EUR][1000 genomes]
rs2734561	0.85[EUR][1000 genomes]
rs2927561	0.90[EUR][1000 genomes]
rs4764430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6488285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310643	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7397310	0.87[EUR][1000 genomes]
rs7957681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7958658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964772	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7965744	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7980379	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription 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 target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10515200-10518600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr12:10515400-10518600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:10516000-10518400	Active TSS	K562	blood
4	chr12:10516200-10518400	Active TSS	Ovary	ovary
5	chr12:10516200-10518800	Flanking Active TSS	HUVEC	blood vessel
6	chr12:10516400-10518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:10516400-10518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:10516400-10519200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:10516600-10518600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:10516600-10518800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:10516600-10518800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:10516800-10518400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:10516800-10518400	Active TSS	Aorta	Aorta
14	chr12:10516800-10518400	Active TSS	Brain Angular Gyrus	brain
15	chr12:10516800-10518600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:10516800-10518600	Active TSS	Fetal Muscle Trunk	muscle
17	chr12:10516800-10518600	Flanking Active TSS	Dnd41	blood
18	chr12:10517000-10518600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:10517200-10518400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:10517200-10518400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:10517200-10518400	Active TSS	Brain Substantia Nigra	brain
22	chr12:10517200-10518400	Active TSS	Pancreas	Pancrea
23	chr12:10517200-10518600	Active TSS	Rectal Smooth Muscle	rectum
24	chr12:10517400-10518400	Active TSS	Fetal Lung	lung
25	chr12:10517600-10518400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:10517800-10518400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr12:10517800-10518400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr12:10517800-10518400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:10517800-10518400	Flanking Active TSS	Fetal Thymus	thymus
30	chr12:10517800-10518400	Weak transcription	Small Intestine	intestine
31	chr12:10517800-10518400	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:10517800-10518600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:10517800-10518600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:10517800-10518600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:10517800-10518600	Flanking Active TSS	Liver	Liver
36	chr12:10517800-10518600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr12:10517800-10518800	Flanking Active TSS	Osteobl	bone
38	chr12:10517800-10519000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:10517800-10519600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr12:10518000-10518400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:10518000-10518400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:10518000-10518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:10518000-10518400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:10518000-10518400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:10518000-10518400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr12:10518000-10518400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:10518000-10518400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:10518000-10518400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr12:10518000-10518400	Weak transcription	Gastric	stomach
50	chr12:10518000-10518400	Weak transcription	Lung	lung

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