Variant report

Variant	rs2325717
Chromosome Location	chr17:45867804-45867805
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45865807..45868514-chr17:48934567..48937512,3	MCF-7	breast:
2	chr17:45853700..45854313-chr17:45867166..45867952,2	MCF-7	breast:
3	chr17:45853707..45854624-chr17:45867195..45868017,3	MCF-7	breast:
4	chr17:45867186..45869909-chr17:45871017..45872911,2	K562	blood:
5	chr17:45854160..45857127-chr17:45865977..45868516,2	K562	blood:
6	chr17:45867435..45868183-chr17:49034181..49034718,2	MCF-7	breast:
7	chr17:45860250..45864095-chr17:45867054..45870047,3	MCF-7	breast:
8	chr17:45867067..45868093-chr17:45879443..45880039,3	MCF-7	breast:
9	chr17:45775947..45777166-chr17:45867364..45868043,3	MCF-7	breast:
10	chr17:45867474..45868066-chr17:46088362..46088896,2	K562	blood:
11	chr17:45741427..45742405-chr17:45867146..45867910,3	MCF-7	breast:
12	chr17:45775840..45777149-chr17:45867146..45868057,3	MCF-7	breast:
13	chr17:45857879..45859469-chr17:45866625..45868596,2	K562	blood:

No data

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10445375	1.00[CHB][hapmap]
rs11079791	1.00[CHB][hapmap]
rs11655336	1.00[CHB][hapmap]
rs12721470	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16946264	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17244587	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17699436	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875720	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41515744	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4793646	0.82[JPT][hapmap]
rs56336232	0.85[ASN][1000 genomes]
rs57570362	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58606102	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58805251	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60156897	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648870	0.81[ASN][1000 genomes]
rs72648872	0.81[ASN][1000 genomes]
rs72667004	0.81[ASN][1000 genomes]
rs72831648	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72831650	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72831652	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72831653	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72831657	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72831659	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7342912	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7342955	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8071192	0.82[JPT][hapmap]
rs8076180	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076527	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8077085	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8080756	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8081095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45866200-45868000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:45866400-45868000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:45866600-45868000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr17:45866600-45868000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:45866800-45868000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:45867000-45868000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
7	chr17:45867000-45868000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:45867000-45868000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr17:45867000-45868000	Bivalent Enhancer	Fetal Brain Male	brain
10	chr17:45867000-45868000	Bivalent Enhancer	Placenta	Placenta
11	chr17:45867000-45868000	Enhancers	Spleen	Spleen
12	chr17:45867200-45868000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:45867200-45868000	Bivalent Enhancer	Fetal Heart	heart
14	chr17:45867400-45868000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr17:45867600-45868000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr17:45867600-45868000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr17:45867600-45868000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:45867600-45868000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:45867600-45868000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
20	chr17:45867600-45868000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr17:45867600-45868000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr17:45867800-45868000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:45867800-45868000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:45867800-45868000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr17:45867800-45868000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:45867800-45868000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr17:45867800-45868000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:45867800-45868000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:45867800-45868000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:45867800-45868000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
31	chr17:45867800-45868000	Bivalent Enhancer	Lung	lung
32	chr17:45867800-45868000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
33	chr17:45867800-45868000	Flanking Bivalent TSS/Enh	A549	lung
34	chr17:45867800-45868000	Bivalent Enhancer	HepG2	liver

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