Variant report

Variant	rs1963043
Chromosome Location	chr1:154710016-154710017
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	chr1:154703220..154706226-chr1:154707743..154711907,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1304059	1.00[EUR][1000 genomes]
rs1395564	1.00[EUR][1000 genomes]
rs2131899	1.00[EUR][1000 genomes]
rs4845655	1.00[EUR][1000 genomes]
rs4845656	1.00[EUR][1000 genomes]
rs6426859	1.00[EUR][1000 genomes]
rs6690287	1.00[EUR][1000 genomes]
rs6700656	1.00[EUR][1000 genomes]
rs9427111	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154699800-154711400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154699800-154717600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:154703600-154715600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:154704200-154712200	Weak transcription	Psoas Muscle	Psoas
5	chr1:154704200-154714200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:154704200-154714600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:154704200-154718600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:154704400-154714400	Weak transcription	Left Ventricle	heart
9	chr1:154704600-154710200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:154704600-154713600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:154704600-154716000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:154704800-154723800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:154705800-154713600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:154706600-154715000	Weak transcription	Fetal Brain Male	brain
15	chr1:154706800-154713800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:154706800-154715800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:154707200-154714200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:154708200-154716800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:154708600-154713800	Weak transcription	GM12878-XiMat	blood
20	chr1:154708800-154710400	Enhancers	Osteobl	bone
21	chr1:154709000-154710200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:154709000-154710200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:154709000-154710200	Enhancers	NH-A	brain
24	chr1:154709200-154710200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:154709200-154710400	Enhancers	HSMM	muscle
26	chr1:154709400-154710200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:154709400-154710400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:154709400-154710400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:154709400-154710400	Enhancers	Fetal Brain Female	brain
30	chr1:154709600-154710200	Weak transcription	Fetal Stomach	stomach
31	chr1:154709600-154710600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:154709600-154711000	Weak transcription	Fetal Thymus	thymus
33	chr1:154709600-154711800	Weak transcription	Thymus	Thymus
34	chr1:154709600-154712200	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:154709600-154712200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:154710000-154710200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:154710000-154710200	Enhancers	Brain Hippocampus Middle	brain
38	chr1:154710000-154710600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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