Variant report

Variant	rs57112433
Chromosome Location	chr1:154172647-154172648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154169916..154173099-chr1:154176240..154179351,4	K562	blood:
2	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
3	chr1:154154121..154156326-chr1:154171658..154173649,2	K562	blood:
4	chr1:154158467..154161316-chr1:154169815..154172829,3	MCF-7	breast:
5	chr1:154171859..154174380-chr1:154194428..154197108,2	MCF-7	breast:
6	chr1:154166653..154169226-chr1:154170279..154172715,2	K562	blood:
7	chr1:154171149..154174208-chr1:154243460..154246377,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143549	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000163263	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61738945	1.00[AMR][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	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
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154163800-154178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:154164600-154178800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154164800-154178200	Weak transcription	Lung	lung
5	chr1:154164800-154178400	Weak transcription	Ovary	ovary
6	chr1:154165200-154177800	Weak transcription	Placenta	Placenta
7	chr1:154165800-154178400	Weak transcription	Psoas Muscle	Psoas
8	chr1:154166800-154177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:154167000-154178600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:154167200-154177800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:154167600-154177200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:154167800-154178800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:154169600-154178400	Weak transcription	NH-A	brain
14	chr1:154169800-154177600	Weak transcription	Fetal Thymus	thymus
15	chr1:154169800-154178800	Weak transcription	Gastric	stomach
16	chr1:154170000-154178400	Weak transcription	Hela-S3	cervix
17	chr1:154170000-154178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:154171200-154173000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:154171200-154173200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:154171800-154173000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:154171800-154178600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:154172000-154173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:154172000-154173000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:154172000-154173200	Enhancers	Pancreas	Pancrea
25	chr1:154172000-154177200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:154172000-154177200	Weak transcription	Primary T cells from cord blood	blood
27	chr1:154172000-154177200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:154172000-154177600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:154172000-154177600	Weak transcription	Fetal Brain Female	brain
30	chr1:154172000-154177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:154172000-154177800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:154172000-154177800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:154172000-154177800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:154172000-154177800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:154172000-154177800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:154172000-154177800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:154172000-154178000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:154172000-154178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:154172000-154178000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:154172000-154178000	Weak transcription	GM12878-XiMat	blood
41	chr1:154172000-154178200	Weak transcription	Aorta	Aorta
42	chr1:154172000-154178400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:154172000-154178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:154172000-154178400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:154172000-154178400	Weak transcription	Primary B cells from cord blood	blood
46	chr1:154172000-154178400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:154172000-154178400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:154172000-154178400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:154172000-154178400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:154172000-154178600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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