Variant report

Variant	rs3176781
Chromosome Location	chr12:9914857-9914858
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	POLR2A	chr12:9914828-9915216	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:9914848-9915273	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9913275..9915086-chr12:10364378..10366451,2	K562	blood:

Variant related genes	Relation type
CD69	TF binding region
ENSG00000139112	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12307489	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136560	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176788	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176790	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7953260	0.81[AFR][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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9912800-9915000	Flanking Active TSS	Dnd41	blood
3	chr12:9913000-9916000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:9913800-9917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:9914000-9915200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:9914000-9916800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:9914200-9915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:9914200-9917000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:9914200-9917000	Weak transcription	HUVEC	blood vessel
10	chr12:9914200-9917400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:9914200-9917800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:9914200-9918600	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:9914400-9915000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:9914400-9915200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:9914400-9917000	Enhancers	Primary B cells from cord blood	blood
16	chr12:9914400-9917400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:9914400-9918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:9914400-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:9914600-9915200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:9914600-9915400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:9914600-9915400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr12:9914600-9915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:9914600-9917000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:9914600-9917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:9914600-9918400	Enhancers	Fetal Thymus	thymus
26	chr12:9914600-9918600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
28	chr12:9914800-9915000	Weak transcription	K562	blood
29	chr12:9914800-9916600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:9914800-9916600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:9914800-9916800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr12:9914800-9916800	Enhancers	Thymus	Thymus
33	chr12:9914800-9918600	Enhancers	Primary hematopoietic stem cells	blood

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