Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212321261..212322830-chr1:212323122..212327254,4	K562	blood:
2	chr1:212318676..212322551-chr1:212455747..212460203,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10779569	1.00[YRI][hapmap]
rs11119865	1.00[YRI][hapmap]
rs11119919	1.00[YRI][hapmap]
rs12117845	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12122247	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs12122488	1.00[YRI][hapmap]
rs12125159	1.00[YRI][hapmap]
rs12126761	1.00[YRI][hapmap]
rs12128609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12130548	1.00[YRI][hapmap]
rs12131060	1.00[YRI][hapmap]
rs12131323	1.00[ASN][1000 genomes]
rs12132233	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs12139237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12144884	1.00[YRI][hapmap]
rs12145020	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs12145757	0.87[ASN][1000 genomes]
rs12747761	1.00[YRI][hapmap]
rs17018334	0.89[MEX][hapmap]
rs2358448	1.00[YRI][hapmap]
rs2358451	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34374547	0.83[EUR][1000 genomes]
rs35720341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795836	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs4951573	1.00[YRI][hapmap]
rs56386133	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6661987	1.00[YRI][hapmap]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212313400-212325800	Weak transcription	Right Atrium	heart
3	chr1:212313400-212326200	Weak transcription	Colonic Mucosa	Colon
4	chr1:212313600-212324400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:212314400-212332200	Weak transcription	Dnd41	blood
6	chr1:212320400-212332400	Weak transcription	Gastric	stomach
7	chr1:212321000-212324000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:212321000-212324200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:212321200-212322800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:212321200-212323000	Weak transcription	Stomach Mucosa	stomach
11	chr1:212321200-212324200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:212321200-212325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:212321200-212326800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:212321200-212330800	Weak transcription	Fetal Thymus	thymus
15	chr1:212321400-212323000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:212321400-212323000	Weak transcription	K562	blood
17	chr1:212321400-212324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:212321400-212324200	Weak transcription	Fetal Intestine Large	intestine
19	chr1:212321400-212326600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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