Variant report

Variant	rs7312334
Chromosome Location	chr12:32827756-32827757
allele	C/T
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	ATF2	chr12:32827637-32828166	GM12878	blood:	n/a	n/a
3	GATA3	chr12:32827696-32828300	T-47D	breast:	n/a	chr12:32827999-32828020 chr12:32828001-32828017
4	EP300	chr12:32827729-32828021	GM12878	blood:	n/a	chr12:32827866-32827880
5	SPI1	chr12:32827693-32828089	HL-60	blood:	n/a	chr12:32827866-32827875
6	IRF4	chr12:32827591-32828145	GM12878	blood:	n/a	n/a
7	MTA3	chr12:32827619-32828190	GM12878	blood:	n/a	n/a
8	SPI1	chr12:32827676-32827998	GM12878	blood:	n/a	chr12:32827866-32827875
9	PAX5	chr12:32827587-32828124	GM12878	blood:	n/a	chr12:32827866-32827875
10	TBL1XR1	chr12:32827748-32828022	GM12878	blood:	n/a	n/a
11	EBF1	chr12:32827744-32828037	GM12878	blood:	n/a	n/a
12	RUNX3	chr12:32827541-32828098	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:32827660-32828065	GM12878	blood:	n/a	chr12:32827866-32827875
14	RUNX3	chr12:32827632-32828073	GM12878	blood:	n/a	n/a
15	NFIC	chr12:32827558-32828186	GM12878	blood:	n/a	n/a
16	NFIC	chr12:32827591-32828064	GM12878	blood:	n/a	n/a
17	PAX5	chr12:32827716-32827963	GM12878	blood:	n/a	chr12:32827866-32827875
18	GATA3	chr12:32827750-32828207	T-47D	breast:	n/a	chr12:32827999-32828020 chr12:32828001-32828017
19	BHLHE40	chr12:32827688-32828085	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr12:32827734-32828217	MCF-7	breast:	n/a	n/a
21	IRF4	chr12:32827631-32828173	GM12878	blood:	n/a	n/a
22	SPI1	chr12:32827296-32828352	GM12878	blood:	n/a	chr12:32827866-32827875
23	ESR1	chr12:32827741-32828287	T-47D	breast:	n/a	n/a
24	ZNF143	chr12:32827751-32827992	GM12878	blood:	n/a	n/a
25	SPI1	chr12:32827591-32828140	GM12891	blood:	n/a	chr12:32827866-32827875
26	BCLAF1	chr12:32827668-32828141	GM12878	blood:	n/a	chr12:32827866-32827875
27	BCL11A	chr12:32827642-32828008	GM12878	blood:	n/a	chr12:32827866-32827875
28	SPI1	chr12:32827578-32828114	GM12878	blood:	n/a	chr12:32827866-32827875
29	BCLAF1	chr12:32827694-32828111	GM12878	blood:	n/a	chr12:32827866-32827875
30	EP300	chr12:32827691-32828090	GM12878	blood:	n/a	chr12:32827866-32827880
31	EP300	chr12:32827740-32828256	T-47D	breast:	n/a	chr12:32827866-32827880
32	PAX5	chr12:32827751-32828012	GM12878	blood:	n/a	chr12:32827866-32827875
33	SP1	chr12:32827655-32828092	GM12878	blood:	n/a	n/a
34	SPI1	chr12:32827577-32828158	GM12891	blood:	n/a	chr12:32827866-32827875
35	EP300	chr12:32827721-32828155	MCF-7	breast:	n/a	chr12:32827866-32827880
36	CHD2	chr12:32827736-32828076	GM12878	blood:	n/a	n/a
37	RCOR1	chr12:32827732-32827980	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
DNM1L	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7135097	0.87[AMR][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:18 , 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	chr12:32827000-32827800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:32827000-32828400	Enhancers	Primary B cells from cord blood	blood
9	chr12:32827000-32828400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:32827000-32828400	Enhancers	GM12878-XiMat	blood
11	chr12:32827000-32828600	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:32827000-32828800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:32827000-32831800	Enhancers	Placenta	Placenta
14	chr12:32827200-32828000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:32827200-32828000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:32827400-32831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:32827600-32828000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:32827600-32828200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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