Variant report

Variant	rs12087736
Chromosome Location	chr1:154695678-154695679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154692372..154696038-chr1:154698108..154702200,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1131820	1.00[JPT][hapmap]
rs12408926	1.00[CHB][hapmap]
rs1777930	1.00[JPT][hapmap]
rs4845392	1.00[JPT][hapmap]
rs72700220	1.00[ASN][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154677400-154698600	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:154680600-154696400	Weak transcription	Left Ventricle	heart
3	chr1:154683000-154699200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:154686200-154703000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:154687000-154696400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:154687000-154698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:154687000-154699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:154687000-154701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:154687000-154701800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:154687000-154702800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:154687400-154696400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:154687400-154698800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:154688800-154696200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:154688800-154698400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:154688800-154699000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:154689400-154698800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:154689400-154699600	Weak transcription	Right Atrium	heart
18	chr1:154690000-154700800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:154690600-154696000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:154690800-154696000	Weak transcription	Fetal Stomach	stomach
21	chr1:154690800-154696200	Weak transcription	Fetal Brain Male	brain
22	chr1:154692200-154699000	Weak transcription	Fetal Brain Female	brain
23	chr1:154692800-154696200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:154692800-154697000	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:154692800-154698600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:154693400-154696200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:154693400-154698600	Weak transcription	Spleen	Spleen
28	chr1:154693400-154709400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:154693600-154696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:154693600-154699200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:154693800-154698400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:154693800-154698600	Weak transcription	Fetal Thymus	thymus
33	chr1:154693800-154707800	Weak transcription	Primary T cells from cord blood	blood
34	chr1:154694400-154699000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:154694800-154696200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:154694800-154696200	Weak transcription	GM12878-XiMat	blood
37	chr1:154694800-154698400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:154694800-154698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:154694800-154698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:154695000-154696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:154695000-154697800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:154695400-154698000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:154695600-154695800	Enhancers	Small Intestine	intestine

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