Variant report

Variant	rs12211975
Chromosome Location	chr6:37776222-37776223
allele	C/T
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	chr6:37756505..37762867-chr6:37772774..37778127,6	MCF-7	breast:
2	chr6:37773348..37778942-chr6:37784434..37789284,15	MCF-7	breast:
3	chr6:37775388..37777392-chr6:37792232..37794017,2	MCF-7	breast:
4	chr6:37771553..37779758-chr6:37784024..37789413,23	MCF-7	breast:
5	chr6:37761178..37763195-chr6:37774802..37776873,2	MCF-7	breast:
6	chr6:37770736..37773178-chr6:37775480..37777364,3	K562	blood:
7	chr6:37773868..37777488-chr6:37778348..37782159,4	K562	blood:
8	chr6:37770736..37773178-chr6:37775480..37777289,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11756656	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1212636	0.92[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12198360	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12523829	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs174105	0.89[EUR][1000 genomes]
rs1979759	0.89[CEU][hapmap];0.94[CHB][hapmap];0.84[EUR][1000 genomes]
rs2055205	0.86[EUR][1000 genomes]
rs2180514	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2395687	0.82[EUR][1000 genomes]
rs259672	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs259674	0.88[EUR][1000 genomes]
rs259675	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs259676	0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs259678	0.84[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs259682	0.88[EUR][1000 genomes]
rs259683	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs259685	0.89[EUR][1000 genomes]
rs259687	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs259693	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs259694	0.87[EUR][1000 genomes]
rs259714	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259717	0.86[CHB][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs259721	0.92[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs259722	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs259723	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4142102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711515	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711522	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6458030	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67133782	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915506	0.84[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs6917668	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs6926280	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6934617	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937655	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72849334	0.96[ASN][1000 genomes]
rs72849338	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9349051	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357255	0.88[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs9369022	0.87[AMR][1000 genomes]
rs9369024	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9369025	0.85[ASN][1000 genomes]
rs9380703	0.96[ASN][1000 genomes]
rs9380704	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9462374	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs9470714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9470723	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9470724	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9470725	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9647620	0.81[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]

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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37767400-37777000	Weak transcription	Right Atrium	heart
2	chr6:37769600-37776800	Weak transcription	Liver	Liver
3	chr6:37772600-37776800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:37773000-37776800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:37774600-37777400	Enhancers	Fetal Brain Male	brain
6	chr6:37774800-37776400	Enhancers	Fetal Brain Female	brain
7	chr6:37775200-37777400	Enhancers	Fetal Kidney	kidney
8	chr6:37775200-37777400	Enhancers	Fetal Muscle Leg	muscle
9	chr6:37775200-37777400	Enhancers	HSMMtube	muscle
10	chr6:37775200-37777600	Enhancers	HMEC	breast
11	chr6:37775400-37776400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:37775400-37776400	Enhancers	HSMM	muscle
13	chr6:37775400-37776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:37775400-37777200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:37775400-37777400	Enhancers	Placenta	Placenta
16	chr6:37775400-37777400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:37775400-37777400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:37775400-37777600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:37775400-37777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:37775600-37776400	Flanking Active TSS	NHEK	skin
21	chr6:37775800-37776400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:37775800-37776400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:37775800-37776400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:37775800-37776800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:37775800-37777000	Weak transcription	Esophagus	oesophagus
26	chr6:37775800-37777200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:37775800-37777200	Weak transcription	Psoas Muscle	Psoas
28	chr6:37775800-37777400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:37776000-37776400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:37776000-37776400	Weak transcription	Ovary	ovary
31	chr6:37776000-37785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:37776200-37776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:37776200-37776600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:37776200-37776600	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:37776200-37776800	Weak transcription	Brain Angular Gyrus	brain
36	chr6:37776200-37777400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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