Variant report

Variant	rs61930082
Chromosome Location	chr12:86230438-86230439
allele	C/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	CEBPB	chr12:86229803-86230626	A549	lung:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
2	FOXA1	chr12:86230188-86230679	HepG2	liver:	n/a	n/a
3	FOXA2	chr12:86230059-86230794	A549	lung:	n/a	n/a
4	FOXA2	chr12:86230295-86230517	HepG2	liver:	n/a	n/a
5	NR3C1	chr12:86230016-86230718	A549	lung:	n/a	n/a
6	TCF12	chr12:86229548-86230929	A549	lung:	n/a	chr12:86230608-86230618
7	FOXA1	chr12:86230035-86230638	A549	lung:	n/a	n/a
8	GATA3	chr12:86229829-86230676	A549	lung:	n/a	chr12:86230244-86230254
9	NR3C1	chr12:86229888-86230654	A549	lung:	n/a	n/a
10	MAZ	chr12:86229379-86230481	Hela-S3	cervix:	n/a	chr12:86229601-86229610 chr12:86230024-86230034
11	POLR2A	chr12:86229637-86230457	HUVEC	blood vessel:	n/a	n/a
12	SP1	chr12:86229622-86230725	A549	lung:	n/a	chr12:86230394-86230403 chr12:86230392-86230404 chr12:86230030-86230040 chr12:86230030-86230039 chr12:86230026-86230040 chr12:86230392-86230404
13	FOXA2	chr12:86229863-86230816	A549	lung:	n/a	n/a
14	GTF2F1	chr12:86229601-86230567	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr12:86229407-86230660	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:86229265-86230712	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr12:86229961-86230526	MCF10A-Er-Src	breast:	n/a	chr12:86230099-86230107 chr12:86230274-86230286 chr12:86230026-86230038
18	CEBPB	chr12:86229126-86230531	Hela-S3	cervix:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
19	SP1	chr12:86229694-86230699	A549	lung:	n/a	chr12:86230394-86230403 chr12:86230392-86230404 chr12:86230030-86230040 chr12:86230030-86230039 chr12:86230026-86230040 chr12:86230392-86230404
20	CEBPB	chr12:86229902-86230485	A549	lung:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
21	FOS	chr12:86229766-86230503	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr12:86229621-86230771	A549	lung:	n/a	chr12:86230024-86230034
23	POLR2A	chr12:86230293-86230471	GM12878	blood:	n/a	n/a
24	RCOR1	chr12:86229299-86230586	Hela-S3	cervix:	n/a	n/a
25	NFIC	chr12:86230041-86230591	ECC-1	luminal epithelium:	n/a	n/a
26	REST	chr12:86229682-86230636	A549	lung:	n/a	n/a
27	NR3C1	chr12:86230195-86230605	A549	lung:	n/a	n/a
28	POLR2A	chr12:86230009-86230577	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr12:86230086-86230708	A549	lung:	n/a	n/a
30	CREB1	chr12:86230012-86230594	A549	lung:	n/a	n/a
31	EP300	chr12:86229929-86230725	A549	lung:	n/a	chr12:86230080-86230094 chr12:86230257-86230271 chr12:86230261-86230275 chr12:86230250-86230264 chr12:86230255-86230269 chr12:86230242-86230256
32	POLR2A	chr12:86228261-86230561	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXA1	chr12:86230332-86230583	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:86229818-86230466	Hela-S3	cervix:	n/a	n/a
35	FOXA1	chr12:86230309-86230616	HepG2	liver:	n/a	n/a
36	TCF12	chr12:86229910-86230530	ECC-1	luminal epithelium:	n/a	n/a
37	NR3C1	chr12:86230145-86230693	A549	lung:	n/a	n/a
38	ZKSCAN1	chr12:86229786-86230502	Hela-S3	cervix:	n/a	n/a
39	NR3C1	chr12:86230220-86230594	A549	lung:	n/a	n/a
40	FOSL2	chr12:86229730-86230559	A549	lung:	n/a	n/a
41	RUNX3	chr12:86230243-86230600	GM12878	blood:	n/a	n/a
42	TBP	chr12:86229281-86230562	Hela-S3	cervix:	n/a	n/a
43	SMC3	chr12:86229875-86230660	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr12:86229719-86230593	Hela-S3	cervix:	n/a	n/a
45	STAT3	chr12:86229740-86230676	MCF10A-Er-Src	breast:	n/a	chr12:86230099-86230107 chr12:86230274-86230286 chr12:86230026-86230038
46	MAZ	chr12:86230384-86230547	HepG2	liver:	n/a	n/a
47	NR3C1	chr12:86229933-86230733	A549	lung:	n/a	n/a
48	ZNF263	chr12:86229672-86230539	HEK293-T-REx	kidney:	n/a	chr12:86230283-86230292 chr12:86230061-86230070
49	EP300	chr12:86229547-86230803	A549	lung:	n/a	chr12:86230080-86230094 chr12:86230257-86230271 chr12:86230261-86230275 chr12:86230250-86230264 chr12:86230255-86230269 chr12:86230242-86230256
50	USF2	chr12:86229646-86230588	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RASSF9	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1800832	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55644633	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55694421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55736533	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55746689	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55754162	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55811116	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55811700	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55853578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55856700	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55899243	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55900789	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55926212	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55966514	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56055322	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56080507	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56145432	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56169451	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56208754	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56298026	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56323012	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61928894	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928895	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928896	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928898	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928900	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928903	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61928908	0.99[EUR][1000 genomes]
rs61928913	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928917	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928918	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61928956	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930061	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930069	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930070	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930071	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930072	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930075	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930079	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930122	0.89[EUR][1000 genomes]
rs61930124	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930128	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930131	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61930135	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930136	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61930578	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61930583	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61930594	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61930596	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61930597	0.86[EUR][1000 genomes]
rs61930598	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61930627	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61930642	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930643	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930649	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61930651	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930652	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61930653	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930863	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930876	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930878	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930880	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930881	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930882	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930895	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7132746	0.87[EUR][1000 genomes]
rs7962310	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7973110	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
7	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86227200-86230600	Active TSS	Right Atrium	heart
2	chr12:86227600-86230600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:86227800-86231000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:86228000-86230600	Active TSS	Fetal Kidney	kidney
5	chr12:86229200-86230600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:86229200-86230600	Active TSS	Right Ventricle	heart
7	chr12:86229200-86230800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:86229200-86230800	Active TSS	Colon Smooth Muscle	Colon
9	chr12:86229400-86230600	Active TSS	Brain Substantia Nigra	brain
10	chr12:86229400-86230600	Flanking Active TSS	HUVEC	blood vessel
11	chr12:86229400-86230800	Active TSS	Brain Anterior Caudate	brain
12	chr12:86229400-86230800	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:86229600-86230600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:86229600-86230600	Active TSS	Colonic Mucosa	Colon
15	chr12:86229600-86230800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:86229800-86231000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:86229800-86231200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:86229800-86231200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:86230000-86230600	Flanking Active TSS	NH-A	brain
20	chr12:86230200-86230600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr12:86230200-86230600	Flanking Active TSS	HMEC	breast
22	chr12:86230200-86230600	Flanking Active TSS	NHEK	skin
23	chr12:86230200-86230800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr12:86230200-86230800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:86230200-86230800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:86230200-86231000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:86230200-86231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:86230200-86231000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:86230200-86231000	Enhancers	Gastric	stomach
30	chr12:86230400-86230600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:86230400-86230600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:86230400-86230600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:86230400-86230600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:86230400-86230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:86230400-86230600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:86230400-86230600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:86230400-86230600	Enhancers	Liver	Liver
38	chr12:86230400-86230600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:86230400-86230600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:86230400-86230600	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr12:86230400-86230600	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr12:86230400-86230600	Enhancers	Fetal Muscle Trunk	muscle
43	chr12:86230400-86230600	Flanking Active TSS	Left Ventricle	heart
44	chr12:86230400-86230600	Flanking Active TSS	Ovary	ovary
45	chr12:86230400-86230600	Flanking Active TSS	Pancreas	Pancrea
46	chr12:86230400-86230600	Flanking Active TSS	Psoas Muscle	Psoas
47	chr12:86230400-86230600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:86230400-86230600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:86230400-86230600	Enhancers	HSMM	muscle
50	chr12:86230400-86230600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links