Variant report

Variant	rs12079041
Chromosome Location	chr1:241715422-241715423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241714129..241716798-chr1:241717149..241719743,2	K562	blood:
2	chr1:241714951..241717865-chr1:241719124..241722009,2	K562	blood:
3	chr1:241694037..241696144-chr1:241714939..241716744,2	K562	blood:
4	chr1:241715297..241717214-chr1:241721647..241724093,2	K562	blood:
5	chr1:241713534..241716005-chr1:241800890..241804792,3	K562	blood:

Variant related genes	Relation type
ENSG00000117009	Chromatin interaction
ENSG00000054277	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12083705	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes]
rs6660201	0.85[CEU][hapmap];0.80[YRI][hapmap]
rs6681337	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6685410	1.00[CHD][hapmap]
rs6689793	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs72766090	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv873371	chr1:241667244-241747838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12079041	ACTN2	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241712200-241716400	Strong transcription	Liver	Liver
2	chr1:241712800-241717000	Strong transcription	Placenta	Placenta
3	chr1:241714400-241716000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:241714400-241716000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:241714400-241716000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:241714600-241715600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:241714600-241715600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:241714600-241716000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:241714600-241722000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:241714600-241732600	Weak transcription	Spleen	Spleen
11	chr1:241714800-241715800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr1:241714800-241715800	Flanking Active TSS	K562	blood
13	chr1:241714800-241716000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:241715000-241715600	Active TSS	Primary monocytes fromperipheralblood	blood
15	chr1:241715000-241715600	Active TSS	Primary T cells fromperipheralblood	blood
16	chr1:241715000-241715600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr1:241715000-241715600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:241715000-241715600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:241715000-241715600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:241715000-241715600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:241715000-241715600	Active TSS	Adipose Nuclei	Adipose
22	chr1:241715000-241715600	Active TSS	Duodenum Mucosa	Duodenum
23	chr1:241715000-241715600	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:241715000-241715800	Active TSS	Primary T cells from cord blood	blood
25	chr1:241715000-241715800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:241715000-241715800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:241715000-241715800	Active TSS	Thymus	Thymus
28	chr1:241715200-241715600	Active TSS	Primary B cells from cord blood	blood
29	chr1:241715200-241715600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:241715200-241715600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:241715200-241715600	Active TSS	Fetal Thymus	thymus
32	chr1:241715200-241716000	Active TSS	Rectal Smooth Muscle	rectum
33	chr1:241715400-241715600	Active TSS	Primary B cells from peripheral blood	blood
34	chr1:241715400-241715600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:241715400-241716000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:241715400-241716000	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:241715400-241719200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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