Variant report

Variant	rs12218210
Chromosome Location	chr10:6390834-6390835
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	CEBPB	chr10:6390554-6390901	A549	lung:	n/a	n/a
2	EP300	chr10:6390655-6391009	SK-N-SH_RA	brain:	n/a	n/a
3	CEBPB	chr10:6390558-6390847	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:6390545-6390944	MCF-7	breast:	n/a	n/a
5	CEBPB	chr10:6390529-6390908	MCF-7	breast:	n/a	n/a
6	MXI1	chr10:6389903-6390903	GM12878	blood:	n/a	n/a
7	CEBPB	chr10:6390542-6390909	K562	blood:	n/a	n/a
8	POLR2A	chr10:6389208-6391113	Raji	blood:	n/a	n/a
9	CEBPB	chr10:6390545-6390911	IMR90	lung:	n/a	n/a
10	CEBPB	chr10:6390427-6390981	A549	lung:	n/a	n/a
11	EP300	chr10:6389475-6390852	GM12878	blood:	n/a	chr10:6389539-6389546 chr10:6390216-6390230
12	CEBPB	chr10:6390549-6390868	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr10:6390552-6390913	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6388010..6391003-chr10:6392017..6395362,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212743	TF binding region
ENSG00000212743	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10906333	0.82[ASN][1000 genomes]
rs10906341	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11258237	0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11258238	0.86[ASN][1000 genomes]
rs12220818	1.00[YRI][hapmap]
rs17152987	1.00[YRI][hapmap]
rs2181623	0.81[ASN][1000 genomes]
rs4750316	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv5676	chr10:6381200-6428950	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
2	chr10:6388200-6391200	Flanking Active TSS	Dnd41	blood
3	chr10:6388800-6391600	Enhancers	Fetal Brain Male	brain
4	chr10:6389000-6391200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:6389000-6392600	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:6389200-6391200	Enhancers	Fetal Brain Female	brain
7	chr10:6389400-6391200	Flanking Active TSS	GM12878-XiMat	blood
8	chr10:6389600-6391000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:6389600-6391200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:6389800-6391000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:6390000-6391000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr10:6390000-6391000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr10:6390000-6391000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr10:6390000-6391200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr10:6390000-6392000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr10:6390000-6392200	Weak transcription	Psoas Muscle	Psoas
17	chr10:6390000-6393600	Weak transcription	Lung	lung
18	chr10:6390200-6391400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:6390200-6391600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:6390200-6392200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr10:6390200-6396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:6390400-6391000	Enhancers	Brain Anterior Caudate	brain
23	chr10:6390400-6391000	Enhancers	Brain Hippocampus Middle	brain
24	chr10:6390600-6391000	Enhancers	Primary T cells from cord blood	blood
25	chr10:6390600-6391000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr10:6390600-6391800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:6390600-6392200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr10:6390600-6392400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:6390600-6393600	Weak transcription	A549	lung
30	chr10:6390600-6396600	Weak transcription	Aorta	Aorta
31	chr10:6390600-6397200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:6390800-6391200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:6390800-6391200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr10:6390800-6391800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:6390800-6392600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr10:6390800-6393000	Enhancers	Primary B cells from cord blood	blood
37	chr10:6390800-6393000	Enhancers	Primary B cells from peripheral blood	blood
38	chr10:6390800-6393200	Weak transcription	Primary monocytes fromperipheralblood	blood

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