Variant report

Variant	rs12664885
Chromosome Location	chr6:167046618-167046619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167044666..167049346-chr6:167050228..167055763,8	K562	blood:
2	chr6:167045626..167049988-chr6:167051387..167056754,6	K562	blood:
3	chr6:167042665..167045576-chr6:167045886..167047673,3	K562	blood:
4	chr6:167040000..167042307-chr6:167045871..167048705,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071242	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10223606	0.95[ASN][1000 genomes]
rs12333057	0.92[ASN][1000 genomes]
rs12663354	0.97[ASN][1000 genomes]
rs12664453	0.92[ASN][1000 genomes]
rs12664861	0.97[ASN][1000 genomes]
rs3778374	0.95[ASN][1000 genomes]
rs3778376	0.95[ASN][1000 genomes]
rs3799569	0.95[ASN][1000 genomes]
rs6909203	0.90[ASN][1000 genomes]
rs6932695	0.92[ASN][1000 genomes]
rs763191	0.92[ASN][1000 genomes]
rs7760180	0.92[ASN][1000 genomes]
rs9457191	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9459702	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9459704	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9459705	0.92[ASN][1000 genomes]
rs9459707	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167042800-167046800	Weak transcription	Psoas Muscle	Psoas
2	chr6:167042800-167049600	Weak transcription	Adipose Nuclei	Adipose
3	chr6:167042800-167050600	Weak transcription	Esophagus	oesophagus
4	chr6:167043000-167048000	Weak transcription	Fetal Brain Female	brain
5	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:167044200-167046800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:167044200-167046800	Weak transcription	HSMMtube	muscle
8	chr6:167044200-167046800	Weak transcription	NHLF	lung
9	chr6:167044200-167047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:167044600-167046800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:167044600-167050000	Weak transcription	HUVEC	blood vessel
12	chr6:167045000-167048800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:167045000-167050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:167045000-167061200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:167045600-167047400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:167046000-167048200	Enhancers	Fetal Heart	heart
17	chr6:167046200-167046800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:167046200-167047400	Enhancers	Left Ventricle	heart
19	chr6:167046200-167047400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:167046200-167047600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:167046200-167048000	Enhancers	Lung	lung
22	chr6:167046200-167048000	Enhancers	Right Atrium	heart
23	chr6:167046200-167051600	Enhancers	Right Ventricle	heart
24	chr6:167046400-167047800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:167046400-167048600	Weak transcription	Spleen	Spleen
26	chr6:167046600-167047600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:167046600-167047800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:167046600-167048000	Enhancers	NHDF-Ad	bronchial
29	chr6:167046600-167054600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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