Variant report

Variant	rs72856580
Chromosome Location	chr6:38688329-38688330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:38688197-38688402	HepG2	liver:	n/a	n/a
2	RAD21	chr6:38688146-38688436	SK-N-SH_RA	brain:	n/a	n/a
3	ZNF143	chr6:38688211-38688406	GM12878	blood:	n/a	n/a
4	CTCF	chr6:38688226-38688354	LNCaP	prostate:	n/a	n/a
5	SETDB1	chr6:38688043-38688532	U2OS	brain:	n/a	n/a
6	GATA3	chr6:38687867-38688452	T-47D	breast:	n/a	n/a
7	RAD21	chr6:38688183-38688365	GM12878	blood:	n/a	n/a
8	CTCF	chr6:38688180-38688330	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr6:38688180-38688330	GM12868	blood:	n/a	n/a
10	CTCF	chr6:38688220-38688370	GM12873	blood:	n/a	n/a
11	ZNF143	chr6:38688117-38688475	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:38688260-38688410	GM06990	blood:	n/a	n/a
13	CTCF	chr6:38688220-38688370	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr6:38688254-38688354	GM10266	blood:	n/a	n/a
15	CTCF	chr6:38688220-38688370	HPF	lung:	n/a	n/a
16	CTCF	chr6:38688120-38688393	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr6:38688136-38688460	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr6:38688039-38688499	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr6:38688240-38688390	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:38688200-38688350	HCM	heart:	n/a	n/a
21	CTCF	chr6:38688220-38688370	HVMF	connective:	n/a	n/a
22	CTCF	chr6:38688220-38688369	LNCaP	prostate:	n/a	n/a
23	CTCF	chr6:38688200-38688350	GM12865	blood:	n/a	n/a
24	CTCF	chr6:38688104-38688401	T-47D	breast:	n/a	n/a
25	CTCF	chr6:38688220-38688370	HAc	cerebellar:	n/a	n/a
26	CTCF	chr6:38688180-38688330	HPAF	blood vessel:	n/a	n/a
27	RAD21	chr6:38688104-38688426	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:38688126-38688487	K562	blood:	n/a	n/a
29	SMC3	chr6:38688159-38688430	GM12878	blood:	n/a	n/a
30	CTCF	chr6:38688240-38688390	NHEK	skin:	n/a	n/a
31	CTCF	chr6:38688240-38688390	GM12872	blood:	n/a	n/a
32	CTCF	chr6:38688180-38688330	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr6:38688200-38688350	WERI-Rb-1	eye:	n/a	n/a
34	RAD21	chr6:38688009-38688438	HCT-116	colon:	n/a	n/a
35	CTCF	chr6:38688260-38688410	GM12873	blood:	n/a	n/a
36	CTCF	chr6:38688280-38688430	GM12864	blood:	n/a	n/a
37	RAD21	chr6:38688076-38688466	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:38688240-38688390	GM12873	blood:	n/a	n/a
39	CTCF	chr6:38688200-38688350	BE2_C	brain:	n/a	n/a
40	YY1	chr6:38688055-38688379	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr6:38688068-38688473	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:38688200-38688350	GM12864	blood:	n/a	n/a
43	CTCF	chr6:38688200-38688350	NHLF	lung:	n/a	n/a
44	CTCF	chr6:38688220-38688370	HEEpiC	esophagus:	n/a	n/a
45	JUND	chr6:38688175-38688373	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:38688200-38688350	HMF	breast:	n/a	n/a
47	CTCF	chr6:38688220-38688370	HCPEpiC	choroid plexus:	n/a	n/a
48	RAD21	chr6:38688029-38688404	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:38688200-38688350	K562	blood:	n/a	n/a
50	CTCF	chr6:38688200-38688350	GM12872	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:38668685..38671973-chr6:38686734..38689430,3	K562	blood:
2	chr6:38685571..38688559-chr6:38689048..38691986,2	MCF-7	breast:
3	chr6:38669174..38672884-chr6:38687687..38690103,5	K562	blood:
4	chr6:38669007..38671346-chr6:38688058..38690097,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNAH8	TF binding region
ENSG00000124767	Chromatin interaction
ENSG00000124721	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10484855	1.00[ASN][1000 genomes]
rs11751782	1.00[ASN][1000 genomes]
rs12206711	1.00[ASN][1000 genomes]
rs12212784	1.00[ASN][1000 genomes]
rs13191302	1.00[ASN][1000 genomes]
rs13196530	1.00[ASN][1000 genomes]
rs13196708	1.00[ASN][1000 genomes]
rs13198900	1.00[ASN][1000 genomes]
rs13199033	1.00[ASN][1000 genomes]
rs13202862	1.00[ASN][1000 genomes]
rs13203443	1.00[ASN][1000 genomes]
rs13207160	1.00[ASN][1000 genomes]
rs13209846	1.00[ASN][1000 genomes]
rs13210334	1.00[ASN][1000 genomes]
rs13212218	1.00[ASN][1000 genomes]
rs13213257	1.00[ASN][1000 genomes]
rs13215896	1.00[ASN][1000 genomes]
rs13217234	1.00[ASN][1000 genomes]
rs13218305	1.00[ASN][1000 genomes]
rs13219252	1.00[ASN][1000 genomes]
rs13219781	1.00[ASN][1000 genomes]
rs1698998	1.00[ASN][1000 genomes]
rs17544311	1.00[ASN][1000 genomes]
rs17544868	1.00[ASN][1000 genomes]
rs1937782	1.00[ASN][1000 genomes]
rs2654449	1.00[ASN][1000 genomes]
rs28360530	1.00[ASN][1000 genomes]
rs34349982	1.00[ASN][1000 genomes]
rs34360712	1.00[ASN][1000 genomes]
rs34408317	1.00[ASN][1000 genomes]
rs34470929	1.00[ASN][1000 genomes]
rs34519749	1.00[ASN][1000 genomes]
rs34637217	1.00[ASN][1000 genomes]
rs34695044	1.00[ASN][1000 genomes]
rs34897279	1.00[ASN][1000 genomes]
rs34962226	1.00[ASN][1000 genomes]
rs34971977	1.00[ASN][1000 genomes]
rs35147121	1.00[ASN][1000 genomes]
rs35152718	1.00[ASN][1000 genomes]
rs35207097	1.00[ASN][1000 genomes]
rs35266471	1.00[ASN][1000 genomes]
rs35388596	1.00[ASN][1000 genomes]
rs35901431	1.00[ASN][1000 genomes]
rs35975219	1.00[ASN][1000 genomes]
rs67457665	1.00[ASN][1000 genomes]
rs71544423	1.00[ASN][1000 genomes]
rs71571331	1.00[ASN][1000 genomes]
rs71571332	1.00[ASN][1000 genomes]
rs71571336	1.00[ASN][1000 genomes]
rs73416349	1.00[ASN][1000 genomes]
rs73416350	1.00[ASN][1000 genomes]
rs73416351	1.00[ASN][1000 genomes]
rs7451595	1.00[ASN][1000 genomes]
rs7604	1.00[ASN][1000 genomes]
rs7746400	1.00[ASN][1000 genomes]
rs7750789	1.00[ASN][1000 genomes]
rs7762397	1.00[ASN][1000 genomes]
rs963720	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38687600-38688600	Enhancers	HUVEC	blood vessel
2	chr6:38688200-38689600	Enhancers	HepG2	liver
3	chr6:38688200-38690000	Weak transcription	K562	blood

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