Variant report

Variant	rs60259303
Chromosome Location	chr6:2351800-2351801
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	chr6:2351761..2353493-chr6:2362781..2364796,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12193650	0.80[ASN][1000 genomes]
rs12197051	0.94[ASN][1000 genomes]
rs12211058	0.94[ASN][1000 genomes]
rs17134937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1887419	0.97[ASN][1000 genomes]
rs35888609	1.00[AFR][1000 genomes]
rs4502983	0.94[ASN][1000 genomes]
rs57974028	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs58112041	0.94[ASN][1000 genomes]
rs61693896	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6915462	0.94[ASN][1000 genomes]
rs6917662	0.94[ASN][1000 genomes]
rs9503146	0.99[ASN][1000 genomes]
rs9503147	0.94[ASN][1000 genomes]
rs9503150	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
6	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv883391	chr6:2282747-2507448	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2339200-2370000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:2344400-2353600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:2344400-2377400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:2345400-2365800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:2345600-2353800	Weak transcription	Fetal Stomach	stomach
6	chr6:2346600-2352000	Weak transcription	Aorta	Aorta
7	chr6:2346600-2353800	Weak transcription	HepG2	liver
8	chr6:2347000-2362800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:2347400-2352000	Weak transcription	HSMMtube	muscle
10	chr6:2349400-2362000	Weak transcription	Spleen	Spleen
11	chr6:2349600-2353800	Weak transcription	Stomach Mucosa	stomach
12	chr6:2350000-2356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:2350600-2353800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:2351000-2353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2351200-2352000	Enhancers	Osteobl	bone
16	chr6:2351200-2352400	Enhancers	NHLF	lung
17	chr6:2351200-2352800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:2351200-2353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:2351200-2353400	Enhancers	NH-A	brain
20	chr6:2351600-2352800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:2351600-2352800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:2351600-2353200	Enhancers	NHDF-Ad	bronchial
23	chr6:2351800-2352000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:2351800-2352400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:2351800-2354400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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