Variant report

Variant	rs62434545
Chromosome Location	chr7:7985758-7985759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7985394..7987246-chr7:8007323..8009239,2	K562	blood:
2	chr7:7982231..7984516-chr7:7984634..7987020,2	MCF-7	breast:
3	chr7:7969976..7971625-chr7:7983223..7985791,2	MCF-7	breast:
4	chr7:7985182..7986874-chr7:7992150..7994347,2	K562	blood:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12164075	0.85[EUR][1000 genomes]
rs12702680	0.82[EUR][1000 genomes]
rs12702681	0.86[EUR][1000 genomes]
rs12702682	0.84[EUR][1000 genomes]
rs13231908	0.89[EUR][1000 genomes]
rs13234723	0.89[EUR][1000 genomes]
rs13235362	0.89[EUR][1000 genomes]
rs13236952	0.86[EUR][1000 genomes]
rs13242956	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13308567	0.89[EUR][1000 genomes]
rs13309133	0.89[EUR][1000 genomes]
rs17151589	0.89[EUR][1000 genomes]
rs17565131	0.89[EUR][1000 genomes]
rs34525445	0.89[EUR][1000 genomes]
rs34913867	0.88[EUR][1000 genomes]
rs35509495	0.80[EUR][1000 genomes]
rs35720350	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv525502	chr7:7938596-7996590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv606048	chr7:7938596-7996590	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7976000-7986200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:7976800-7986200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:7982800-7985800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:7983800-7985800	Flanking Active TSS	Dnd41	blood
5	chr7:7984200-7985800	Enhancers	Fetal Muscle Leg	muscle
6	chr7:7984200-7987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:7984400-7985800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:7984400-7985800	Weak transcription	Aorta	Aorta
9	chr7:7984400-7986000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:7984400-7995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:7984400-7996200	Weak transcription	Left Ventricle	heart
12	chr7:7984600-7986200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:7984800-7985800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:7984800-7985800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:7984800-7985800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:7984800-7986000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:7984800-7986600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:7984800-7996800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:7985000-7985800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:7985000-7985800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:7985000-7986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:7985000-7986400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:7985000-7987000	Enhancers	Thymus	Thymus
24	chr7:7985000-7991200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:7985000-8003800	Weak transcription	Primary B cells from cord blood	blood
26	chr7:7985200-7985800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:7985200-7986200	Enhancers	GM12878-XiMat	blood
28	chr7:7985200-7986800	Enhancers	Fetal Thymus	thymus
29	chr7:7985400-7985800	Enhancers	Placenta	Placenta
30	chr7:7985400-7986800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:7985400-8007600	Weak transcription	Psoas Muscle	Psoas
32	chr7:7985600-7990400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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