Variant report

Variant	rs7604808
Chromosome Location	chr2:145024193-145024194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145022492..145025356-chr2:145028578..145030081,2	MCF-7	breast:
2	chr2:145016697..145018494-chr2:145023081..145025716,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10183682	1.00[AMR][1000 genomes]
rs10194389	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194888	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11884223	0.90[ASW][hapmap];0.81[YRI][hapmap]
rs13404324	0.90[ASW][hapmap]
rs13411155	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412245	0.83[AMR][1000 genomes]
rs13412436	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415613	0.93[YRI][hapmap]
rs13422361	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426801	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28590276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430053	0.81[YRI][hapmap]
rs6717975	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719334	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7559941	0.80[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562623	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571365	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574640	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594866	0.93[YRI][hapmap]
rs7597335	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:145008600-145025800	Weak transcription	Ovary	ovary
2	chr2:145015000-145066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:145016800-145028800	Weak transcription	Fetal Lung	lung
4	chr2:145018400-145024800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:145018800-145024800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:145018800-145031800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:145019200-145024200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:145019200-145024600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:145019200-145024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:145019200-145025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:145019400-145024400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:145019400-145024600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:145019400-145024800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:145019600-145024400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:145020600-145030000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:145020800-145032000	Weak transcription	Fetal Stomach	stomach
17	chr2:145022000-145030800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:145022200-145026200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:145023000-145025800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:145023400-145025600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:145023400-145026400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:145023600-145025800	Enhancers	Primary T cells from cord blood	blood
23	chr2:145023600-145031000	Weak transcription	Spleen	Spleen
24	chr2:145023800-145024800	Weak transcription	Pancreas	Pancrea
25	chr2:145024000-145025000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:145024000-145025400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:145024000-145025600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:145024000-145025800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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