Variant report

Variant	rs57299654
Chromosome Location	chr3:178922803-178922804
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	chr3:178865100..178867630-chr3:178921872..178925209,3	K562	blood:
2	chr3:178865505..178867284-chr3:178921537..178924390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121879	Chromatin interaction
ENSG00000229102	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11706842	0.82[ASN][1000 genomes]
rs11708869	0.82[ASN][1000 genomes]
rs11918324	0.85[ASN][1000 genomes]
rs11918587	0.82[ASN][1000 genomes]
rs11924545	0.86[ASN][1000 genomes]
rs11924547	0.82[ASN][1000 genomes]
rs11924600	0.86[ASN][1000 genomes]
rs11925655	0.82[ASN][1000 genomes]
rs17849071	0.85[ASN][1000 genomes]
rs1850504	0.82[ASN][1000 genomes]
rs1976765	0.82[ASN][1000 genomes]
rs2865082	0.85[ASN][1000 genomes]
rs3729682	0.85[ASN][1000 genomes]
rs3729694	0.84[ASN][1000 genomes]
rs3976507	0.82[ASN][1000 genomes]
rs4855093	0.82[ASN][1000 genomes]
rs55685804	0.85[ASN][1000 genomes]
rs55933053	0.82[ASN][1000 genomes]
rs55961756	0.85[ASN][1000 genomes]
rs56143971	0.85[ASN][1000 genomes]
rs56372555	0.82[ASN][1000 genomes]
rs59340081	0.82[ASN][1000 genomes]
rs59922883	0.82[ASN][1000 genomes]
rs61796482	0.85[ASN][1000 genomes]
rs6443626	0.82[ASN][1000 genomes]
rs6443627	0.82[ASN][1000 genomes]
rs67609137	0.82[ASN][1000 genomes]
rs6765953	0.85[ASN][1000 genomes]
rs6767284	0.82[ASN][1000 genomes]
rs6769508	0.82[ASN][1000 genomes]
rs6770267	0.82[ASN][1000 genomes]
rs6774158	0.84[ASN][1000 genomes]
rs6777203	0.85[ASN][1000 genomes]
rs6791153	0.85[ASN][1000 genomes]
rs67920954	0.85[ASN][1000 genomes]
rs6792189	0.82[ASN][1000 genomes]
rs6797304	0.82[ASN][1000 genomes]
rs6799756	0.82[ASN][1000 genomes]
rs6806555	0.82[ASN][1000 genomes]
rs6810246	0.82[ASN][1000 genomes]
rs73051974	0.82[ASN][1000 genomes]
rs73187264	0.85[ASN][1000 genomes]
rs73187276	0.85[ASN][1000 genomes]
rs7612533	0.82[ASN][1000 genomes]
rs7614418	0.85[ASN][1000 genomes]
rs7623154	0.85[ASN][1000 genomes]
rs7624090	0.85[ASN][1000 genomes]
rs7627273	0.82[ASN][1000 genomes]
rs7628855	0.82[ASN][1000 genomes]
rs7636454	0.85[ASN][1000 genomes]
rs7638323	0.85[ASN][1000 genomes]
rs7638649	0.82[ASN][1000 genomes]
rs7641889	0.82[ASN][1000 genomes]
rs7648857	0.82[ASN][1000 genomes]
rs7651265	0.82[ASN][1000 genomes]
rs938752	0.82[ASN][1000 genomes]
rs9819762	0.85[ASN][1000 genomes]
rs9838411	0.82[ASN][1000 genomes]
rs9839519	0.82[ASN][1000 genomes]
rs9850621	0.82[ASN][1000 genomes]
rs9877812	0.82[ASN][1000 genomes]
rs9881887	0.82[ASN][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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178899200-178951800	Weak transcription	K562	blood
2	chr3:178900000-178929800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:178906400-178962400	Weak transcription	HepG2	liver
4	chr3:178908000-178923600	Weak transcription	Fetal Brain Female	brain
5	chr3:178909000-178931400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:178909000-178947000	Weak transcription	Ovary	ovary
7	chr3:178909400-178925400	Weak transcription	Aorta	Aorta
8	chr3:178911200-178953400	Weak transcription	Gastric	stomach
9	chr3:178912400-178924000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
11	chr3:178912600-178947800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:178913000-178925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:178913000-178925400	Weak transcription	Pancreas	Pancrea
14	chr3:178913000-178930800	Weak transcription	Left Ventricle	heart
15	chr3:178913000-178948200	Weak transcription	Psoas Muscle	Psoas
16	chr3:178913200-178945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:178913200-178947000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:178913200-178947000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:178913800-178954000	Weak transcription	Fetal Heart	heart
20	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
21	chr3:178914000-178928200	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:178914200-178928000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:178914200-178928000	Weak transcription	Brain Substantia Nigra	brain
24	chr3:178914200-178928200	Weak transcription	Brain Anterior Caudate	brain
25	chr3:178914600-178945200	Weak transcription	HMEC	breast
26	chr3:178914800-178926400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:178914800-178927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:178914800-178927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:178914800-178928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:178914800-178928000	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:178914800-178928000	Weak transcription	Osteobl	bone
32	chr3:178914800-178928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:178914800-178933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:178914800-178941400	Weak transcription	GM12878-XiMat	blood
35	chr3:178914800-178942800	Weak transcription	NH-A	brain
36	chr3:178914800-178948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:178915400-178923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:178915400-178929400	Weak transcription	HSMMtube	muscle
40	chr3:178915400-178931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:178915400-178946000	Weak transcription	Stomach Mucosa	stomach
42	chr3:178915400-178947000	Weak transcription	NHDF-Ad	bronchial
43	chr3:178915600-178947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
45	chr3:178916600-178924000	Strong transcription	Dnd41	blood
46	chr3:178916600-178925800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:178916600-178926400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:178916600-178932600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:178916800-178930000	Strong transcription	Primary B cells from cord blood	blood
50	chr3:178917000-178923600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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