Variant report

Variant	rs7744208
Chromosome Location	chr6:140199140-140199141
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:140199000-140199150	HMF	breast:	n/a	n/a
2	RAD21	chr6:140198890-140199608	HCT-116	colon:	n/a	n/a
3	CTCF	chr6:140199092-140199140	HepG2	liver:	n/a	n/a
4	CTCF	chr6:140199060-140199210	GM12868	blood:	n/a	n/a
5	RAD21	chr6:140199038-140199587	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:140199069-140199175	NHEK	skin:	n/a	n/a
7	CTCF	chr6:140199086-140199559	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:140199080-140199230	HepG2	liver:	n/a	n/a
9	CTCF	chr6:140199116-140199536	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:140199100-140199250	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:140199140-140199290	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:140199036-140199483	MCF-7	breast:	n/a	n/a
13	RAD21	chr6:140198838-140199537	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:140199100-140199250	BE2_C	brain:	n/a	n/a
15	CTCF	chr6:140199080-140199230	GM12864	blood:	n/a	n/a
16	RAD21	chr6:140198993-140199424	HepG2	liver:	n/a	n/a
17	CTCF	chr6:140199140-140199290	A549	lung:	n/a	n/a
18	CTCF	chr6:140199000-140199150	GM12865	blood:	n/a	n/a
19	RAD21	chr6:140199093-140199562	HepG2	liver:	n/a	n/a
20	CTCF	chr6:140199040-140199190	NHEK	skin:	n/a	n/a
21	CTCF	chr6:140199046-140199169	MCF-7	breast:	n/a	n/a
22	RAD21	chr6:140199060-140199602	HCT-116	colon:	n/a	n/a
23	RAD21	chr6:140199062-140199471	HepG2	liver:	n/a	n/a
24	CTCF	chr6:140199064-140199472	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:140199020-140199170	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr6:140199020-140199170	RPTEC	kidney:	n/a	n/a
27	RAD21	chr6:140198978-140199400	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:140199103-140199385	K562	blood:	n/a	n/a
29	CTCF	chr6:140199020-140199170	WERI-Rb-1	eye:	n/a	n/a
30	RAD21	chr6:140199010-140199324	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:140199086-140199412	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:140199120-140199270	K562	blood:	n/a	n/a
33	RAD21	chr6:140199014-140199672	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:140199060-140199192	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:139689405..139691897-chr6:140198725..140200915,3	MCF-7	breast:
2	chr6:139692335..139698075-chr6:140197375..140205470,17	MCF-7	breast:
3	chr6:139694103..139694827-chr6:140198829..140199613,2	MCF-7	breast:
4	chr6:139692969..139697282-chr6:140197638..140202883,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225148	TF binding region
ENSG00000164442	Chromatin interaction

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

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

rs_ID	r²[population]
rs17069435	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17069437	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4896494	0.84[CHB][hapmap]
rs4896495	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590585	0.85[JPT][hapmap]
rs613274	0.84[JPT][hapmap]
rs618471	0.85[JPT][hapmap]
rs642162	0.84[CHB][hapmap]
rs660269	0.91[ASN][1000 genomes]
rs6904492	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs7760148	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856648	0.81[ASN][1000 genomes]
rs856649	0.88[ASN][1000 genomes]
rs9376477	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376478	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs9389730	0.85[JPT][hapmap]
rs9484321	0.84[JPT][hapmap]

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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140190800-140203400	Weak transcription	Fetal Lung	lung
2	chr6:140191600-140203000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:140194000-140201400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:140194400-140203000	Weak transcription	NHLF	lung
5	chr6:140194800-140204200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:140199000-140199200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:140199000-140199400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:140199000-140199400	Enhancers	Lung	lung

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