Variant report

Variant	rs3112995
Chromosome Location	chr2:95805050-95805051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95802957..95805442-chr2:95808699..95810395,2	K562	blood:
2	chr2:95803442..95805382-chr2:95823730..95826663,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144026	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10172167	0.81[CEU][hapmap]
rs10195614	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1104775	0.85[EUR][1000 genomes]
rs11164122	0.87[CEU][hapmap]
rs12992066	0.83[EUR][1000 genomes]
rs1559483	0.87[CEU][hapmap]
rs17119148	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875402	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1966272	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2001254	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010533	0.88[EUR][1000 genomes]
rs2042477	0.91[CEU][hapmap]
rs2098768	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2113417	0.90[CEU][hapmap]
rs2291991	0.84[EUR][1000 genomes]
rs2320339	0.86[EUR][1000 genomes]
rs2320619	0.86[EUR][1000 genomes]
rs2320620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2320621	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2320624	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105098	0.82[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3105099	0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3105100	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105102	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105105	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112221	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112222	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112223	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112225	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112229	0.85[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112231	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112982	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes]
rs3112983	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs3112984	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3112985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs3112986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs3112987	0.88[EUR][1000 genomes]
rs3112990	0.82[ASN][1000 genomes]
rs3112996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112999	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113000	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3113001	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3113002	0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3755520	0.86[CEU][hapmap]
rs3755521	0.82[CEU][hapmap]
rs3755523	0.86[CEU][hapmap]
rs3755525	0.87[CEU][hapmap]
rs3772041	0.86[CEU][hapmap]
rs3772042	0.86[CEU][hapmap]
rs3772043	0.87[CEU][hapmap]
rs3772044	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs3821341	0.81[CEU][hapmap]
rs4241315	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs4555374	0.81[CEU][hapmap]
rs4564804	0.81[CEU][hapmap]
rs4854241	0.85[CEU][hapmap]
rs4854243	0.88[EUR][1000 genomes]
rs4854244	0.86[EUR][1000 genomes]
rs4854247	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4854249	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6577012	0.86[CEU][hapmap]
rs6577013	0.86[CEU][hapmap]
rs6708474	0.82[CEU][hapmap]
rs6715813	0.86[CEU][hapmap]
rs6719098	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723333	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6725821	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6741001	0.91[CEU][hapmap]
rs7565772	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs7574862	0.86[CEU][hapmap]
rs7580685	0.86[CEU][hapmap]
rs7582368	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs7585473	0.88[EUR][1000 genomes]
rs7585914	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs7586229	0.84[EUR][1000 genomes]
rs7594144	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs870393	0.81[CEU][hapmap]
rs872580	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs889851	0.86[CEU][hapmap]
rs889852	0.86[CEU][hapmap]
rs889853	0.87[CEU][hapmap]
rs918811	0.90[CEU][hapmap]
rs9324212	0.82[CEU][hapmap]
rs9989786	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95788200-95809800	Weak transcription	Right Ventricle	heart
2	chr2:95788600-95807600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:95802600-95805200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:95803000-95821600	ZNF genes & repeats	Fetal Brain Female	brain
5	chr2:95803400-95821400	ZNF genes & repeats	Brain Germinal Matrix	brain
6	chr2:95803600-95805200	ZNF genes & repeats	Aorta	Aorta
7	chr2:95803600-95805200	ZNF genes & repeats	Ovary	ovary
8	chr2:95803600-95805800	ZNF genes & repeats	Liver	Liver
9	chr2:95803600-95822600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr2:95804000-95805200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:95804400-95805200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:95804400-95805200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:95804400-95805200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:95804600-95805400	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr2:95804600-95805400	ZNF genes & repeats	Fetal Stomach	stomach
16	chr2:95804600-95805600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr2:95804600-95805800	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr2:95804800-95805200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:95804800-95805200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr2:95804800-95805800	Weak transcription	Brain Angular Gyrus	brain
21	chr2:95804800-95806600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:95804800-95806800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:95805000-95809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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