Variant report

Variant	rs12195584
Chromosome Location	chr6:74277684-74277685
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74225495..74228323-chr6:74275867..74278333,2	MCF-7	breast:
2	chr6:74277679..74279983-chr6:74283539..74285265,2	K562	blood:
3	chr6:74274687..74279711-chr6:74293912..74296161,4	K562	blood:
4	chr6:74227140..74231865-chr6:74277040..74281960,6	K562	blood:
5	chr6:74273534..74278713-chr6:74287099..74290342,5	K562	blood:
6	chr6:74231699..74233989-chr6:74275538..74278472,2	MCF-7	breast:
7	chr6:74275602..74279787-chr6:74300038..74304050,3	MCF-7	breast:
8	chr6:74227140..74235678-chr6:74271460..74282263,27	K562	blood:
9	chr6:74273534..74277710-chr6:74287099..74290160,5	K562	blood:
10	chr6:74223467..74225709-chr6:74277005..74278629,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10455281	0.86[ASN][1000 genomes]
rs10498892	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943112	0.86[ASN][1000 genomes]
rs10943113	0.86[ASN][1000 genomes]
rs10943117	0.86[ASN][1000 genomes]
rs11962999	0.86[EUR][1000 genomes]
rs11964414	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966187	0.83[EUR][1000 genomes]
rs12191488	0.81[EUR][1000 genomes]
rs12193002	0.86[ASN][1000 genomes]
rs12195068	0.86[ASN][1000 genomes]
rs12196281	0.86[ASN][1000 genomes]
rs12197318	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197927	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12199430	0.82[EUR][1000 genomes]
rs12203363	0.86[ASN][1000 genomes]
rs12206052	0.83[EUR][1000 genomes]
rs12210126	0.86[ASN][1000 genomes]
rs12210394	0.86[ASN][1000 genomes]
rs12210825	0.86[ASN][1000 genomes]
rs12211279	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12212297	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213067	0.86[ASN][1000 genomes]
rs12213868	0.86[ASN][1000 genomes]
rs12214877	0.86[ASN][1000 genomes]
rs12216092	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13193629	0.86[ASN][1000 genomes]
rs13202151	0.86[ASN][1000 genomes]
rs13203297	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13207999	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13211453	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13212809	0.86[ASN][1000 genomes]
rs2351118	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2351119	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2351120	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2351121	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34342150	0.80[ASN][1000 genomes]
rs34613232	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35256309	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35468063	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35659919	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35733187	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36131846	0.86[ASN][1000 genomes]
rs3734518	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3757109	0.86[ASN][1000 genomes]
rs3757111	0.86[ASN][1000 genomes]
rs3799288	0.86[ASN][1000 genomes]
rs4708064	0.86[EUR][1000 genomes]
rs4708065	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59383274	0.86[ASN][1000 genomes]
rs62438456	0.86[ASN][1000 genomes]
rs62440462	0.86[ASN][1000 genomes]
rs71573599	0.81[EUR][1000 genomes]
rs72949387	0.86[ASN][1000 genomes]
rs7744053	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
9	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
10	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74274600-74278600	Enhancers	Placenta	Placenta
2	chr6:74275000-74278400	Enhancers	Fetal Intestine Large	intestine
3	chr6:74275400-74278200	Enhancers	NHDF-Ad	bronchial
4	chr6:74276000-74279200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:74276400-74280200	Weak transcription	Fetal Heart	heart
6	chr6:74276400-74287800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:74276600-74279600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:74277000-74279000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:74277000-74279600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:74277200-74278200	Enhancers	Hela-S3	cervix
11	chr6:74277200-74278200	Weak transcription	NHLF	lung
12	chr6:74277200-74278800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:74277200-74278800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:74277200-74279000	Weak transcription	NH-A	brain
15	chr6:74277200-74280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:74277200-74280600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:74277200-74280600	Weak transcription	HSMM	muscle
18	chr6:74277200-74280800	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:74277200-74280800	Weak transcription	K562	blood
20	chr6:74277200-74287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:74277200-74287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:74277200-74287600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:74277200-74288600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:74277400-74277800	Enhancers	Liver	Liver
25	chr6:74277400-74277800	Enhancers	A549	lung
26	chr6:74277400-74278200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:74277400-74278200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:74277400-74278200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:74277400-74278200	Weak transcription	Osteobl	bone
30	chr6:74277400-74278800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:74277400-74279000	Enhancers	HepG2	liver
32	chr6:74277400-74280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:74277400-74280600	Weak transcription	HSMMtube	muscle
34	chr6:74277400-74280800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:74277600-74278000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:74277600-74278000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:74277600-74278000	Weak transcription	Placenta Amnion	Placenta Amnion

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