Variant report

Variant	rs3026250
Chromosome Location	chr12:9162354-9162355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9157659..9159439-chr12:9161450..9164436,2	K562	blood:
2	chr12:9100812..9102729-chr12:9160116..9162568,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHC1-3	chr12:9162022-9162659	NONHSAT026377

Variant related genes	Relation type
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12304948	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16917969	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap]
rs16918152	1.00[MEX][hapmap]
rs1805699	1.00[EUR][1000 genomes]
rs1805713	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41393747	1.00[MEX][hapmap]
rs55770136	1.00[EUR][1000 genomes]
rs60862093	1.00[EUR][1000 genomes]
rs6487550	1.00[EUR][1000 genomes]
rs7133355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303415	0.88[AFR][1000 genomes]
rs74061424	0.88[AFR][1000 genomes]
rs7957038	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7968986	1.00[EUR][1000 genomes]
rs7980288	1.00[MEX][hapmap]

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9150000-9164000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9152400-9167600	Weak transcription	Left Ventricle	heart
6	chr12:9159600-9168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:9160800-9162600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:9160800-9164800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:9160800-9165400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:9161000-9164200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:9161000-9165600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:9161000-9166200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:9161000-9166400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:9161200-9162800	Strong transcription	Primary hematopoietic stem cells	blood
15	chr12:9161200-9165600	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr12:9161400-9163800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:9161400-9164400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:9161400-9166200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:9161400-9166400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:9161600-9164800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:9162000-9162800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:9162000-9165800	Strong transcription	Adipose Nuclei	Adipose
23	chr12:9162000-9166200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:9162200-9162800	Genic enhancers	Primary T cells from cord blood	blood
25	chr12:9162200-9164200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:9162200-9164200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:9162200-9165800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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