Variant report

Variant	rs885634
Chromosome Location	chr17:46072229-46072230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46065135..46066794-chr17:46070523..46072914,2	MCF-7	breast:
2	chr17:45898759..45901356-chr17:46070132..46072783,2	MCF-7	breast:
3	chr17:46070951..46073524-chr17:46127134..46129292,2	K562	blood:
4	chr17:46070411..46072962-chr17:46123437..46126106,2	MCF-7	breast:
5	chr17:46048584..46050536-chr17:46070948..46073138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263412	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1476578	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476579	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003477	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2003478	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255697	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255815	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2525084	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525085	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525087	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525088	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525090	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525091	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525092	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525093	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525096	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2525098	0.99[ASN][1000 genomes]
rs2597161	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597165	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597168	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597171	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597172	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597173	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597174	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597179	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597180	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2597181	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875746	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905845	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2905846	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905848	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905849	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905850	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905851	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905852	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905853	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34190379	0.92[ASN][1000 genomes]
rs35653190	0.85[ASN][1000 genomes]
rs62064873	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503949	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs729785	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs729786	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737130	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs739853	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7406338	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7503584	0.92[ASN][1000 genomes]
rs8076314	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
2	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:46065400-46072600	Weak transcription	Fetal Lung	lung
5	chr17:46066400-46072600	Weak transcription	Spleen	Spleen
6	chr17:46068000-46074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:46068000-46079800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr17:46068200-46074200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:46068400-46073000	Weak transcription	Fetal Kidney	kidney
10	chr17:46069000-46072600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:46069000-46077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:46069000-46079600	Weak transcription	Fetal Thymus	thymus
13	chr17:46069200-46074400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:46069400-46072600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:46069400-46072600	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:46069800-46074400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:46069800-46075000	Weak transcription	HSMM	muscle
18	chr17:46070000-46073000	Weak transcription	K562	blood
19	chr17:46070000-46075000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:46071000-46075200	Weak transcription	HSMMtube	muscle
21	chr17:46071400-46073800	Enhancers	Fetal Brain Female	brain
22	chr17:46071400-46074200	Enhancers	Pancreas	Pancrea
23	chr17:46071600-46073200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr17:46071600-46073200	Enhancers	Placenta	Placenta
25	chr17:46071600-46073400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr17:46071600-46073800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr17:46071600-46073800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:46071600-46073800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:46071600-46074000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr17:46071800-46073000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr17:46071800-46074000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:46072000-46072600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:46072000-46073400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr17:46072000-46073600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr17:46072000-46073600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr17:46072000-46073800	Enhancers	Brain Germinal Matrix	brain
37	chr17:46072000-46074200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:46072000-46074200	Enhancers	Fetal Brain Male	brain
39	chr17:46072200-46072800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:46072200-46073000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr17:46072200-46073400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr17:46072200-46073400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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