Variant report

Variant	rs6463746
Chromosome Location	chr7:7952201-7952202
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:1)
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	chr7:7951069..7953394-chr7:7953998..7956483,2	K562	blood:
2	chr7:7947056..7948865-chr7:7950686..7953467,2	MCF-7	breast:
3	chr7:7951218..7952780-chr7:7955913..7958820,2	K562	blood:
4	chr7:7951059..7955946-chr7:8007279..8010658,10	MCF-7	breast:
5	chr7:7948433..7950272-chr7:7951772..7953401,2	MCF-7	breast:
6	chr7:7952035..7955913-chr7:7956512..7960009,4	MCF-7	breast:
7	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
8	chr7:7951350..7953467-chr7:8011566..8014289,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ICA1-5	chr7:7951815-7952442	l_3361_chr7:7951501-7956400_thyroid

No data

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000214998	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10232814	0.85[ASN][1000 genomes]
rs11772651	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12164075	0.81[CEU][hapmap]
rs12702670	0.88[ASN][1000 genomes]
rs12702673	0.88[ASN][1000 genomes]
rs12702674	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12702675	0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12702677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12702678	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12702679	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12702680	0.81[CEU][hapmap]
rs13227740	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13239267	0.85[ASN][1000 genomes]
rs2013668	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs6463747	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6950643	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6957537	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7795615	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv464304	chr7:7913819-7970560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606046	chr7:7913819-7970560	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv606049	chr7:7949059-7967424	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7935400-7952600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:7942600-7963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:7943000-7958800	Weak transcription	Aorta	Aorta
4	chr7:7944400-7959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:7948600-7952800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:7949200-7952600	Weak transcription	HSMM	muscle
7	chr7:7949200-7960200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:7949600-7952400	Weak transcription	HSMMtube	muscle
9	chr7:7949600-7953000	Weak transcription	Psoas Muscle	Psoas
10	chr7:7950000-7953000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:7950000-7953600	Weak transcription	Ovary	ovary
12	chr7:7950200-7953000	Weak transcription	Fetal Stomach	stomach
13	chr7:7950400-7954400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:7950600-7952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:7950600-7952600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:7950600-7954000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:7950800-7952400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:7950800-7952400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:7950800-7952600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:7950800-7953600	Enhancers	Placenta	Placenta
21	chr7:7951000-7953400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:7951400-7953000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:7951400-7957800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:7951800-7953200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:7951800-7953200	Enhancers	Hela-S3	cervix
26	chr7:7952000-7952600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr7:7952000-7953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:7952000-7953200	Weak transcription	HepG2	liver
29	chr7:7952200-7953200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:7952200-7953200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:7952200-7953200	Enhancers	Skeletal Muscle Female	skeletal muscle

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