Variant report

Variant	rs12048829
Chromosome Location	chr1:154762909-154762910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154762591..154764311-chr1:154767126..154769154,2	MCF-7	breast:
2	chr1:154762462..154764736-chr1:154782523..154784216,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11264262	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12034528	0.90[JPT][hapmap]
rs12035356	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1506982	0.88[ASN][1000 genomes]
rs1777910	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55732640	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56101645	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56282420	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74115869	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs953559	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv872452	chr1:154750989-154769561	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
2	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:154748800-154764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:154750000-154763800	Weak transcription	HSMMtube	muscle
5	chr1:154756000-154767200	Enhancers	Fetal Thymus	thymus
6	chr1:154757600-154763800	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:154758000-154763200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:154758000-154763200	Weak transcription	Dnd41	blood
9	chr1:154758000-154763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:154758200-154763200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:154758200-154763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:154758400-154763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:154758400-154763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:154758600-154763000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:154758600-154763000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:154758600-154763800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:154758800-154763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:154758800-154763800	Weak transcription	Right Atrium	heart
19	chr1:154760000-154763000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:154760000-154764000	Weak transcription	Spleen	Spleen
21	chr1:154760200-154763800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:154760600-154764000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:154760600-154768200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:154761000-154763800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:154761000-154764400	Weak transcription	Fetal Brain Female	brain
26	chr1:154761400-154763800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:154761800-154763800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:154761800-154764000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:154762200-154763800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:154762200-154763800	Enhancers	GM12878-XiMat	blood
31	chr1:154762400-154766000	Enhancers	Thymus	Thymus
32	chr1:154762600-154763800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:154762600-154765400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:154762600-154766000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:154762800-154763000	Enhancers	Colon Smooth Muscle	Colon
36	chr1:154762800-154763800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:154762800-154764000	Enhancers	Primary T cells from cord blood	blood
38	chr1:154762800-154764000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:154762800-154764000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:154762800-154765600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:154762800-154765800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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