Variant report

Variant	rs12074976
Chromosome Location	chr1:165717712-165717713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165716621..165718197-chr1:165744435..165745968,2	MCF-7	breast:
2	chr1:165717436..165719378-chr1:165795999..165798228,2	K562	blood:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10800161	1.00[AFR][1000 genomes]
rs10918267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918286	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918288	1.00[AFR][1000 genomes]
rs12061566	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12062594	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064466	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12076579	1.00[EUR][1000 genomes]
rs12077778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12079073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12080238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12082722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12090132	1.00[EUR][1000 genomes]
rs12094467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354157	1.00[EUR][1000 genomes]
rs12401468	0.83[AMR][1000 genomes]
rs12566281	1.00[AFR][1000 genomes]
rs28735603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970857	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
4	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
5	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:165696000-165721600	Weak transcription	Gastric	stomach
8	chr1:165699800-165721600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:165707400-165718200	Strong transcription	Primary T cells from cord blood	blood
11	chr1:165707600-165721600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:165707800-165717800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:165708000-165721200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:165708200-165718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:165708200-165721600	Weak transcription	Right Atrium	heart
16	chr1:165708400-165718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:165708800-165721600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:165709200-165718400	Strong transcription	Primary B cells from cord blood	blood
19	chr1:165709200-165720600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:165709400-165718200	Strong transcription	Adipose Nuclei	Adipose
21	chr1:165709600-165718400	Strong transcription	Dnd41	blood
22	chr1:165710400-165721600	Weak transcription	Stomach Mucosa	stomach
23	chr1:165710400-165727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:165711200-165721600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:165711200-165721600	Weak transcription	Fetal Heart	heart
26	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:165711400-165722000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:165712000-165719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:165712000-165721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:165712000-165721600	Weak transcription	Pancreas	Pancrea
31	chr1:165712000-165721600	Weak transcription	Right Ventricle	heart
32	chr1:165712200-165721600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:165712200-165721600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:165712200-165721600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:165712200-165721600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:165712200-165721600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:165712200-165721600	Weak transcription	Left Ventricle	heart
38	chr1:165712200-165721600	Weak transcription	Psoas Muscle	Psoas
39	chr1:165712200-165721600	Weak transcription	Spleen	Spleen
40	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:165712400-165721600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:165712400-165721600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:165712400-165721600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:165712400-165721600	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:165712400-165721600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:165712400-165722000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:165712400-165726800	Weak transcription	Fetal Lung	lung
48	chr1:165712400-165727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:165712400-165727200	Weak transcription	HMEC	breast
50	chr1:165712600-165720200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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