Variant report

Variant	rs1218561
Chromosome Location	chr1:154818988-154818989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154781476..154783319-chr1:154818716..154820251,2	K562	blood:
2	chr1:154793548..154796604-chr1:154817553..154820667,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1218559	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1218560	0.86[AFR][1000 genomes]
rs1218563	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1218564	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:154812000-154822000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:154812400-154824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:154812600-154822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:154813800-154821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:154813800-154822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:154814800-154820400	Weak transcription	Pancreas	Pancrea
9	chr1:154815800-154820200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:154815800-154823200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:154816800-154819000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:154816800-154819200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:154816800-154820200	Enhancers	Fetal Brain Female	brain
14	chr1:154817000-154819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:154817000-154820200	Enhancers	Brain Germinal Matrix	brain
16	chr1:154817600-154819000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:154817600-154819400	Enhancers	Fetal Intestine Small	intestine
18	chr1:154817600-154819400	Enhancers	Fetal Thymus	thymus
19	chr1:154817600-154820200	Enhancers	Brain Anterior Caudate	brain
20	chr1:154817600-154820200	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:154817600-154821200	Enhancers	Psoas Muscle	Psoas
22	chr1:154817800-154819000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:154817800-154819000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:154817800-154819000	Enhancers	Fetal Intestine Large	intestine
25	chr1:154817800-154819200	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:154817800-154819200	Bivalent Enhancer	Placenta	Placenta
27	chr1:154817800-154819800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:154817800-154819800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:154817800-154820200	Enhancers	Brain Angular Gyrus	brain
30	chr1:154817800-154823200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:154818000-154819000	Enhancers	Fetal Lung	lung
32	chr1:154818000-154820000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:154818000-154820200	Enhancers	Brain Hippocampus Middle	brain
34	chr1:154818000-154820200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:154818000-154820200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:154818000-154820200	Enhancers	Brain Substantia Nigra	brain
37	chr1:154818000-154821000	Enhancers	Left Ventricle	heart
38	chr1:154818000-154821200	Enhancers	Spleen	Spleen
39	chr1:154818200-154819400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:154818400-154819000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:154818400-154819200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:154818400-154819400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:154818400-154819400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:154818400-154819400	Enhancers	Lung	lung
45	chr1:154818400-154820200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr1:154818400-154820800	Enhancers	Ovary	ovary
47	chr1:154818600-154819000	Genic enhancers	Fetal Stomach	stomach
48	chr1:154818600-154819200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:154818600-154819200	Weak transcription	Right Atrium	heart
50	chr1:154818600-154819400	Enhancers	HUES48 Cell Line	embryonic stem cell

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