Variant report

Variant	rs4613256
Chromosome Location	chr2:208978312-208978313
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:208977518-208978320	MCF-7	breast:	n/a	chr2:208977894-208977901
2	GATA3	chr2:208977479-208978321	MCF-7	breast:	n/a	chr2:208977894-208977901

Variant related genes	Relation type
CRYGEP	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10195891	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10932239	0.93[ASN][1000 genomes]
rs10932240	0.93[ASN][1000 genomes]
rs11900003	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11900040	0.85[ASN][1000 genomes]
rs12624111	0.93[ASN][1000 genomes]
rs2305429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2305430	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4263096	0.91[EUR][1000 genomes]
rs4277501	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4277502	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4356647	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4482461	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4583446	0.82[EUR][1000 genomes]
rs6435413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9646835	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3443711	chr2:208977244-208989245	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208977200-208978600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:208977400-208978400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:208977400-208978600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:208977400-208978600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:208977400-208978600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:208977600-208978400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:208977600-208978400	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr2:208977600-208978600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:208977800-208978400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:208977800-208978400	Enhancers	Fetal Thymus	thymus
12	chr2:208977800-208978600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:208978000-208978400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:208978000-208978400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:208978000-208978400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:208978000-208978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:208978000-208978400	Flanking Active TSS	Hela-S3	cervix
18	chr2:208978000-208978600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:208978000-208978600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:208978000-208988400	Weak transcription	Fetal Brain Female	brain
21	chr2:208978200-208978400	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:208978200-208978600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:208978200-208978600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:208978200-208978600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:208978200-208978800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:208978200-208983000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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