Variant report

Variant	rs4622693
Chromosome Location	chr2:9790363-9790364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9784748..9786815-chr2:9788863..9790895,3	MCF-7	breast:
2	chr2:9769623..9772219-chr2:9787562..9790407,4	MCF-7	breast:
3	chr2:9782904..9785147-chr2:9789937..9793084,3	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10185981	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615784	0.94[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs13418911	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867105	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867106	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867107	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668627	0.99[ASN][1000 genomes]
rs4669405	1.00[ASN][1000 genomes]
rs4669406	0.98[ASN][1000 genomes]
rs4669407	0.94[CHB][hapmap];0.80[JPT][hapmap];0.99[ASN][1000 genomes]
rs55886075	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58645709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61520432	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66484704	0.99[ASN][1000 genomes]
rs66493547	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67630365	0.99[ASN][1000 genomes]
rs67988353	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68170954	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72777064	0.99[ASN][1000 genomes]
rs72777070	0.99[ASN][1000 genomes]
rs7607750	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608996	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951629	0.82[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr2:9784000-9792400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:9786600-9792400	Weak transcription	Spleen	Spleen
3	chr2:9786800-9792600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:9787000-9792400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:9787200-9792600	Weak transcription	Ovary	ovary
6	chr2:9787800-9790600	Enhancers	Fetal Thymus	thymus
7	chr2:9788000-9791000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:9788200-9791000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:9788400-9790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:9788400-9790800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:9788400-9791000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:9789000-9791000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:9789200-9792600	Weak transcription	Fetal Heart	heart
14	chr2:9789400-9790400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:9789400-9791000	Enhancers	GM12878-XiMat	blood
16	chr2:9789400-9796600	Weak transcription	Gastric	stomach
17	chr2:9789400-9797600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:9789600-9794400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:9789600-9795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:9789600-9796400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:9789800-9793000	Weak transcription	A549	lung
22	chr2:9789800-9794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:9790000-9790600	Weak transcription	Thymus	Thymus
24	chr2:9790200-9790800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:9790200-9790800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:9790200-9790800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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