Variant report

Variant	rs60798771
Chromosome Location	chr2:11675257-11675258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:11675230-11675384	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:11675179-11675370	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:11674980-11675270	GM12866	blood:	n/a	n/a
4	POLR2A	chr2:11675016-11675359	MCF-7	breast:	n/a	n/a
5	RAD21	chr2:11674790-11675308	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:11675241-11675270	HepG2	liver:	n/a	n/a
7	RAD21	chr2:11674910-11675275	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr2:11674799-11675259	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:11674992..11675535-chr2:11722581..11723483,3	MCF-7	breast:
2	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:
3	chr15:65480056..65482247-chr2:11674473..11676860,2	MCF-7	breast:

No data

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000228496	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs10803734	1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56252168	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59554925	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61358269	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[EUR][1000 genomes]
rs6739988	1.00[EUR][1000 genomes]
rs73180141	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7598673	1.00[EUR][1000 genomes]
rs7608777	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11664600-11676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11665000-11678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:11669400-11678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:11670400-11675800	Enhancers	HepG2	liver
5	chr2:11671200-11676800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:11671400-11679200	Weak transcription	Right Atrium	heart
8	chr2:11672400-11676800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:11672400-11678200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11672400-11679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:11672400-11679800	Enhancers	Pancreas	Pancrea
12	chr2:11672800-11679400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:11673000-11676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11673000-11679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:11673600-11679400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:11673600-11679400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:11673600-11679400	Enhancers	Ovary	ovary
18	chr2:11673800-11676000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:11674000-11679400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:11674200-11675400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:11674200-11675400	Enhancers	Right Ventricle	heart
22	chr2:11674400-11679200	Weak transcription	Liver	Liver
23	chr2:11674400-11679200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:11674600-11675400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:11674600-11675400	Enhancers	Hela-S3	cervix
26	chr2:11674600-11676400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:11674600-11679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:11675000-11675400	Enhancers	Fetal Heart	heart
29	chr2:11675000-11676000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:11675000-11676400	Enhancers	Left Ventricle	heart
31	chr2:11675000-11676400	Enhancers	Psoas Muscle	Psoas
32	chr2:11675000-11678000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:11675200-11675400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr2:11675200-11675400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr2:11675200-11676000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:11675200-11676600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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