Variant report

Variant	rs12615784
Chromosome Location	chr2:9789403-9789404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9786319..9790295-chr2:9795169..9796873,3	K562	blood:
2	chr2:9777475..9780124-chr2:9787300..9789724,2	K562	blood:
3	chr2:9781325..9786143-chr2:9786474..9789625,5	K562	blood:
4	chr2:9784748..9786815-chr2:9788863..9790895,3	MCF-7	breast:
5	chr2:9769623..9772219-chr2:9787562..9790407,4	MCF-7	breast:
6	chr2:9787645..9790270-chr2:9840801..9843386,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IAH1-3	chr2:9788439-9789771	NONHSAT069062
2	lnc-IAH1-3	chr2:9788981-9789568	XLOC_001339

No data

Variant related genes	Relation type
ENSG00000240687	Chromatin interaction
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	0.99[ASN][1000 genomes]
rs13418911	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs16867105	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867106	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867107	1.00[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4622693	0.94[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs4668627	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669405	0.99[ASN][1000 genomes]
rs4669406	0.97[ASN][1000 genomes]
rs4669407	0.84[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.95[MKK][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55886075	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58645709	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61520432	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66484704	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66493547	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67630365	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67988353	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68170954	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72777064	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72777070	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607750	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608996	1.00[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs951629	0.81[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:28 , 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	chr2:9787600-9790000	Enhancers	Thymus	Thymus
7	chr2:9787800-9790600	Enhancers	Fetal Thymus	thymus
8	chr2:9788000-9789600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:9788000-9791000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:9788200-9791000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:9788400-9789800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:9788400-9789800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:9788400-9790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:9788400-9790800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:9788400-9791000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:9788600-9789600	Enhancers	Pancreas	Pancrea
17	chr2:9788600-9789800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:9789000-9789600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:9789000-9789800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:9789000-9789800	Enhancers	A549	lung
21	chr2:9789000-9791000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:9789200-9789800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:9789200-9792600	Weak transcription	Fetal Heart	heart
24	chr2:9789400-9789600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:9789400-9790400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:9789400-9791000	Enhancers	GM12878-XiMat	blood
27	chr2:9789400-9796600	Weak transcription	Gastric	stomach
28	chr2:9789400-9797600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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