Variant report

Variant	rs57155242
Chromosome Location	chr3:100063529-100063530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100053614..100055331-chr3:100061973..100064216,2	K562	blood:
2	chr3:100062699..100065082-chr3:100066080..100068778,2	K562	blood:
3	chr3:100053577..100055099-chr3:100063294..100065719,2	MCF-7	breast:
4	chr3:100058351..100061697-chr3:100061751..100064533,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114021	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11918399	0.81[EUR][1000 genomes]
rs11919543	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11919627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16842142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772687	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55699261	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55864663	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56012915	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56956506	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57166766	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57332305	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57703319	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59304656	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59396265	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59491720	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59507591	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59509062	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60463428	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60999188	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941434	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72941452	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941453	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941454	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941473	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941482	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS 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	17 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	chr3:100054000-100065000	Weak transcription	Spleen	Spleen
2	chr3:100054200-100081000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:100054400-100067600	Weak transcription	Psoas Muscle	Psoas
4	chr3:100054600-100064200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:100054600-100064400	Weak transcription	Thymus	Thymus
6	chr3:100054600-100102600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:100054800-100064200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:100054800-100064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:100054800-100064600	Weak transcription	NHLF	lung
10	chr3:100054800-100067200	Weak transcription	Esophagus	oesophagus
11	chr3:100054800-100067400	Weak transcription	Small Intestine	intestine
12	chr3:100054800-100067600	Weak transcription	Colonic Mucosa	Colon
13	chr3:100054800-100068600	Weak transcription	Pancreas	Pancrea
14	chr3:100054800-100069000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:100054800-100081000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:100054800-100097200	Weak transcription	Stomach Mucosa	stomach
17	chr3:100054800-100102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:100055000-100068200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:100055000-100068600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:100055000-100082400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:100055200-100068200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:100055200-100071000	Weak transcription	HepG2	liver
23	chr3:100057000-100069200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:100057000-100069600	Strong transcription	Dnd41	blood
25	chr3:100057200-100066800	Strong transcription	HSMM	muscle
26	chr3:100057200-100069200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:100057200-100069600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:100057400-100069600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr3:100057600-100066200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:100057600-100069200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr3:100057600-100069600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr3:100057600-100069600	Strong transcription	Adipose Nuclei	Adipose
33	chr3:100057800-100066200	Strong transcription	HMEC	breast
34	chr3:100057800-100069600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:100057800-100071400	Weak transcription	Fetal Heart	heart
36	chr3:100058000-100065800	Strong transcription	A549	lung
37	chr3:100058000-100069600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr3:100058000-100069600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:100058000-100069600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:100058200-100065200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:100058200-100065800	Strong transcription	Placenta	Placenta
42	chr3:100058200-100069600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:100058200-100069600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:100058400-100065800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr3:100059200-100064800	Weak transcription	Aorta	Aorta
46	chr3:100059200-100064800	Weak transcription	Lung	lung
47	chr3:100059200-100064800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr3:100059200-100065000	Weak transcription	Gastric	stomach
49	chr3:100059200-100067600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:100059400-100069600	Strong transcription	Primary T cells fromperipheralblood	blood

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