Variant report

Variant	rs17161278
Chromosome Location	chr7:139638354-139638355
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	chr7:139636566..139639672-chr7:139642737..139644709,4	K562	blood:
2	chr7:139631371..139634056-chr7:139637713..139640243,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16882249	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17161252	0.87[ASW][hapmap]
rs17161283	1.00[LWK][hapmap];0.91[YRI][hapmap]
rs2107902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158667	0.89[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139615400-139645000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139618600-139644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:139634000-139656800	Weak transcription	Thymus	Thymus
4	chr7:139634200-139642200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:139636000-139638800	Enhancers	K562	blood
6	chr7:139636200-139640200	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:139636600-139639400	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:139636600-139639600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:139636800-139638600	Enhancers	Primary B cells from cord blood	blood
10	chr7:139636800-139638600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:139636800-139645400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:139636800-139645400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:139637000-139638600	Genic enhancers	Fetal Thymus	thymus
14	chr7:139637000-139639400	Weak transcription	Spleen	Spleen
15	chr7:139637200-139638400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:139637200-139638600	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:139637600-139644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:139638000-139640200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:139638200-139638600	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:139638200-139638800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:139638200-139639600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:139638200-139645000	Weak transcription	Lung	lung

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