Variant report

Variant	rs7312580
Chromosome Location	chr12:32827935-32827936
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	REST	chr12:32827679-32828005	Hela-S3	cervix:	n/a	n/a
2	JUND	chr12:32827763-32828214	T-47D	breast:	n/a	n/a
3	MAZ	chr12:32827818-32828032	GM12878	blood:	n/a	n/a
4	GATA3	chr12:32827810-32828425	MCF-7	breast:	n/a	chr12:32827999-32828020 chr12:32828001-32828017
5	ATF2	chr12:32827637-32828166	GM12878	blood:	n/a	n/a
6	GATA3	chr12:32827696-32828300	T-47D	breast:	n/a	chr12:32827999-32828020 chr12:32828001-32828017
7	EP300	chr12:32827729-32828021	GM12878	blood:	n/a	chr12:32827866-32827880
8	MAX	chr12:32827849-32828056	GM12878	blood:	n/a	n/a
9	SPI1	chr12:32827693-32828089	HL-60	blood:	n/a	chr12:32827866-32827875
10	ESR1	chr12:32827821-32828179	T-47D	breast:	n/a	n/a
11	IRF4	chr12:32827591-32828145	GM12878	blood:	n/a	n/a
12	CEBPB	chr12:32827882-32828137	Hela-S3	cervix:	n/a	n/a
13	MTA3	chr12:32827619-32828190	GM12878	blood:	n/a	n/a
14	SPI1	chr12:32827676-32827998	GM12878	blood:	n/a	chr12:32827866-32827875
15	PAX5	chr12:32827587-32828124	GM12878	blood:	n/a	chr12:32827866-32827875
16	HDAC2	chr12:32827864-32828153	MCF-7	breast:	n/a	n/a
17	FOXA1	chr12:32827843-32828186	T-47D	breast:	n/a	n/a
18	TBL1XR1	chr12:32827748-32828022	GM12878	blood:	n/a	n/a
19	FOXA1	chr12:32827808-32828197	T-47D	breast:	n/a	n/a
20	STAT3	chr12:32827771-32828009	GM12878	blood:	n/a	chr12:32827864-32827875
21	WRNIP1	chr12:32827795-32828062	GM12878	blood:	n/a	n/a
22	EBF1	chr12:32827744-32828037	GM12878	blood:	n/a	n/a
23	RUNX3	chr12:32827541-32828098	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:32827660-32828065	GM12878	blood:	n/a	chr12:32827866-32827875
25	RUNX3	chr12:32827632-32828073	GM12878	blood:	n/a	n/a
26	NFIC	chr12:32827558-32828186	GM12878	blood:	n/a	n/a
27	NFIC	chr12:32827591-32828064	GM12878	blood:	n/a	n/a
28	SMC3	chr12:32827813-32828032	GM12878	blood:	n/a	n/a
29	PAX5	chr12:32827716-32827963	GM12878	blood:	n/a	chr12:32827866-32827875
30	ESR1	chr12:32827842-32828156	T-47D	breast:	n/a	n/a
31	TCF12	chr12:32827757-32828007	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:32827894-32827941	K562	blood:	n/a	n/a
33	GATA3	chr12:32827750-32828207	T-47D	breast:	n/a	chr12:32827999-32828020 chr12:32828001-32828017
34	BHLHE40	chr12:32827688-32828085	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr12:32827734-32828217	MCF-7	breast:	n/a	n/a
36	ZNF384	chr12:32827764-32828094	GM12878	blood:	n/a	n/a
37	IRF4	chr12:32827631-32828173	GM12878	blood:	n/a	n/a
38	SPI1	chr12:32827296-32828352	GM12878	blood:	n/a	chr12:32827866-32827875
39	ESR1	chr12:32827741-32828287	T-47D	breast:	n/a	n/a
40	ZNF143	chr12:32827751-32827992	GM12878	blood:	n/a	n/a
41	SPI1	chr12:32827591-32828140	GM12891	blood:	n/a	chr12:32827866-32827875
42	ESR1	chr12:32827788-32828195	T-47D	breast:	n/a	n/a
43	BCLAF1	chr12:32827668-32828141	GM12878	blood:	n/a	chr12:32827866-32827875
44	BCL11A	chr12:32827642-32828008	GM12878	blood:	n/a	chr12:32827866-32827875
45	TCF12	chr12:32827786-32828122	MCF-7	breast:	n/a	n/a
46	CHD2	chr12:32827871-32828089	Hela-S3	cervix:	n/a	n/a
47	SPI1	chr12:32827578-32828114	GM12878	blood:	n/a	chr12:32827866-32827875
48	BCLAF1	chr12:32827694-32828111	GM12878	blood:	n/a	chr12:32827866-32827875
49	ZNF384	chr12:32827916-32828067	K562	blood:	n/a	n/a
50	EP300	chr12:32827804-32828269	T-47D	breast:	n/a	chr12:32827866-32827880

Variant related genes	Relation type
DNM1L	TF binding region

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

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10771974	0.98[ASN][1000 genomes]
rs10771975	0.98[ASN][1000 genomes]
rs10771977	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771978	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844273	0.98[ASN][1000 genomes]
rs10844274	0.98[ASN][1000 genomes]
rs10844276	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844277	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844278	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844280	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844281	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844283	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11052131	0.96[ASN][1000 genomes]
rs11052132	0.94[ASN][1000 genomes]
rs11052133	0.98[ASN][1000 genomes]
rs11052135	0.98[ASN][1000 genomes]
rs11052137	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052138	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052139	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052140	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052143	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052144	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052145	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052146	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052148	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052150	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052152	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052190	0.83[EUR][1000 genomes]
rs11052202	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11831711	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11831712	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12303123	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303164	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303426	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12303953	0.96[ASN][1000 genomes]
rs12304039	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310263	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310477	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322199	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322258	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12368935	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372562	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372569	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12578124	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578138	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579125	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581955	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810331	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12810355	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810650	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12828920	0.85[ASN][1000 genomes]
rs12830610	0.85[ASN][1000 genomes]
rs28621557	0.94[ASN][1000 genomes]
rs36008752	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931032	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931033	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931034	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931035	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931036	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931649	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945230	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57627995	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61450261	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488074	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488075	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66895109	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132486	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135667	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135806	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295930	0.94[ASN][1000 genomes]
rs7301868	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301985	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303018	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309751	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309894	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310437	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7312162	1.00[ASN][1000 genomes]
rs7316283	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958243	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7968325	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7971671	0.94[ASN][1000 genomes]
rs9971875	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32824800-32831800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32825600-32831800	Weak transcription	Fetal Thymus	thymus
3	chr12:32825800-32831800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:32826000-32831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:32826000-32831800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:32826000-32831800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:32827000-32828400	Enhancers	Primary B cells from cord blood	blood
8	chr12:32827000-32828400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:32827000-32828400	Enhancers	GM12878-XiMat	blood
10	chr12:32827000-32828600	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:32827000-32828800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:32827000-32831800	Enhancers	Placenta	Placenta
13	chr12:32827200-32828000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:32827200-32828000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:32827400-32831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:32827600-32828000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:32827600-32828200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:32827800-32828400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:32827800-32828600	Flanking Active TSS	HepG2	liver

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