Variant report

Variant	rs8073371
Chromosome Location	chr17:46096276-46096277
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46048202..46050216-chr17:46095604..46097333,2	MCF-7	breast:
2	chr17:46080200..46080836-chr17:46095623..46096407,2	K562	blood:
3	chr17:46026392..46027250-chr17:46095165..46096377,5	K562	blood:
4	chr1:8141317..8141817-chr17:46095779..46096378,2	MCF-7	breast:
5	chr17:46094248..46097209-chr17:46632627..46635464,2	K562	blood:
6	chr17:46048492..46050291-chr17:46095854..46098478,2	MCF-7	breast:
7	chr17:46055365..46056387-chr17:46095357..46096410,11	K562	blood:
8	chr17:46095774..46097363-chr17:46099582..46101725,2	MCF-7	breast:
9	chr17:46046870..46049794-chr17:46095106..46097466,2	K562	blood:
10	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
11	chr17:45920026..45921157-chr17:46095429..46096394,5	K562	blood:
12	chr17:45918282..45919202-chr17:46095408..46096409,4	K562	blood:
13	chr17:45920145..45920704-chr17:46095754..46096343,3	MCF-7	breast:
14	chr17:46094604..46097136-chr17:46099608..46102510,2	K562	blood:
15	chr17:46026389..46027048-chr17:46095433..46096283,2	MCF-7	breast:
16	chr17:46055398..46056456-chr17:46095375..46096654,12	MCF-7	breast:
17	chr17:46027110..46029262-chr17:46094448..46097370,2	MCF-7	breast:
18	chr17:46026764..46027682-chr17:46095633..46096284,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141295	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000239552	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10514938	1.00[ASN][1000 genomes]
rs11650615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12951323	0.88[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16948835	1.00[CHB][hapmap]
rs16952265	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16953235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs16953382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16953461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs16953925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16954078	1.00[ASN][1000 genomes]
rs16954204	1.00[ASN][1000 genomes]
rs1986693	0.88[CEU][hapmap];0.96[TSI][hapmap]
rs41280120	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41336845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs4794321	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7216504	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823509	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72823513	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72823527	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823530	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823534	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823591	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823592	0.84[EUR][1000 genomes]
rs72823594	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72823599	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823601	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825504	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825512	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825517	1.00[ASN][1000 genomes]
rs72825548	1.00[ASN][1000 genomes]
rs72825584	1.00[ASN][1000 genomes]
rs8067005	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072525	0.85[LWK][hapmap];1.00[YRI][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46090200-46100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:46090200-46100400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:46090400-46100800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:46092600-46100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:46092600-46100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:46092600-46100800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:46092800-46100200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:46092800-46100400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:46092800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:46092800-46100600	Weak transcription	Fetal Brain Female	brain
11	chr17:46093800-46100600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:46094000-46098600	Weak transcription	HSMMtube	muscle
13	chr17:46094000-46100400	Weak transcription	HSMM	muscle
14	chr17:46094000-46101600	Weak transcription	K562	blood
15	chr17:46095800-46096400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr17:46095800-46097600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:46095800-46098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:46095800-46100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:46095800-46100200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:46095800-46100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:46095800-46100400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:46095800-46100400	Weak transcription	A549	lung
23	chr17:46095800-46100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:46095800-46100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:46095800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:46096000-46098200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr17:46096000-46100400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:46096000-46100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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