Variant report

Variant	rs59520004
Chromosome Location	chr6:2130245-2130246
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	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1006019	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1033533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13206375	0.87[AFR][1000 genomes]
rs17134714	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2038223	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2038224	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2483054	0.83[AMR][1000 genomes]
rs55847540	0.84[AFR][1000 genomes]
rs55937718	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56913552	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58343222	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58405376	0.83[AFR][1000 genomes]
rs59370688	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60593022	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60813424	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61070654	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61096641	0.87[AFR][1000 genomes]
rs628510	0.83[AMR][1000 genomes]
rs6596871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6900870	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6904830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6920255	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6921705	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73418780	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73420706	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73420724	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7757356	0.84[AFR][1000 genomes]
rs9328083	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9501806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501809	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9503101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503104	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9503108	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9503118	0.87[AFR][1000 genomes]
rs9503120	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1019227	chr6:2038843-2142395	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538097	chr6:2038843-2142395	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv883387	chr6:2086679-2176239	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
13	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
14	nsv519587	chr6:2097654-2145447	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv969343	chr6:2108400-2134218	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv524730	chr6:2122454-2145136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv527808	chr6:2122454-2145447	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2081600-2131800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:2104400-2132000	Weak transcription	Fetal Intestine Large	intestine
3	chr6:2109600-2133600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:2114200-2134200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:2116000-2134200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:2118000-2131800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:2119600-2132600	Weak transcription	NHEK	skin
8	chr6:2123600-2134000	Weak transcription	Gastric	stomach
9	chr6:2125000-2134000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:2125000-2134000	Weak transcription	Pancreas	Pancrea
11	chr6:2127000-2130800	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:2128000-2134400	Weak transcription	Right Atrium	heart
13	chr6:2128000-2160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:2128400-2132200	Weak transcription	HUVEC	blood vessel
15	chr6:2129200-2130800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:2129600-2130800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:2129600-2131800	Weak transcription	Small Intestine	intestine
18	chr6:2129600-2132600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:2129600-2134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:2129800-2133800	Weak transcription	HepG2	liver
21	chr6:2130000-2130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:2130000-2131000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:2130000-2132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:2130000-2132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:2130000-2132800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:2130200-2130600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:2130200-2130800	Enhancers	GM12878-XiMat	blood
28	chr6:2130200-2133200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:2130200-2133600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:2130200-2133600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:2130200-2134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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