Variant report

Variant	rs61942058
Chromosome Location	chr12:49101746-49101747
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49079263..49083026-chr12:49101684..49104961,3	K562	blood:
2	chr12:49100239..49102182-chr12:49102700..49104839,2	K562	blood:
3	chr12:49099371..49102358-chr12:49106962..49108782,2	MCF-7	breast:
4	chr12:49100381..49102450-chr12:49257019..49259934,2	MCF-7	breast:
5	chr12:49074433..49077876-chr12:49098610..49102767,4	MCF-7	breast:
6	chr12:49075153..49078313-chr12:49100312..49104111,3	K562	blood:
7	chr12:49099916..49103899-chr12:49108983..49111443,4	MCF-7	breast:
8	chr12:49100039..49101774-chr12:49108882..49110720,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129315	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10875851	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.91[EUR][1000 genomes]
rs61942012	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.92[EUR][1000 genomes]
rs61942053	0.93[EUR][1000 genomes]
rs61942059	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:49081400-49104000	Strong transcription	Hela-S3	cervix
3	chr12:49081600-49103800	Strong transcription	Dnd41	blood
4	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:49082000-49104000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:49082000-49107600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:49082200-49107200	Strong transcription	Liver	Liver
10	chr12:49082200-49107400	Strong transcription	Placenta	Placenta
11	chr12:49082200-49108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:49082200-49108400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:49082200-49108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:49082200-49108600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:49082200-49108800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:49082600-49107600	Strong transcription	Fetal Thymus	thymus
17	chr12:49082800-49101800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:49088200-49107200	Weak transcription	Small Intestine	intestine
19	chr12:49088200-49107400	Weak transcription	Psoas Muscle	Psoas
20	chr12:49088200-49107600	Weak transcription	Stomach Mucosa	stomach
21	chr12:49089800-49109400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:49090000-49107200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:49090000-49107600	Weak transcription	Brain Angular Gyrus	brain
24	chr12:49090000-49107800	Weak transcription	Fetal Heart	heart
25	chr12:49090000-49108400	Weak transcription	Fetal Brain Male	brain
26	chr12:49091800-49103400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:49091800-49104800	Strong transcription	GM12878-XiMat	blood
28	chr12:49091800-49107400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:49093400-49102800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:49093400-49108000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:49095000-49108600	Strong transcription	Fetal Stomach	stomach
32	chr12:49095200-49103400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:49095600-49102200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:49095600-49102800	Strong transcription	Thymus	Thymus
35	chr12:49095600-49103000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:49095600-49107400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:49095600-49107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:49095600-49108800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:49095800-49101800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:49095800-49103200	Strong transcription	Osteobl	bone
41	chr12:49095800-49107200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:49095800-49107600	Strong transcription	A549	lung
43	chr12:49095800-49108400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:49096000-49102200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:49096000-49103000	Strong transcription	Fetal Lung	lung
46	chr12:49096000-49103200	Strong transcription	Primary T cells from cord blood	blood
47	chr12:49096000-49104400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:49096000-49107200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:49096000-49107400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr12:49096200-49102200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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