Variant report

Variant	rs8006052
Chromosome Location	chr14:55899769-55899770
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	chr14:55888145..55889967-chr14:55899523..55902153,2	K562	blood:
2	chr14:55888467..55890762-chr14:55899523..55901753,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10135812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146352	0.93[ASN][1000 genomes]
rs10146485	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146736	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10149166	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11848576	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11848826	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12886310	0.81[ASN][1000 genomes]
rs12896353	0.81[ASN][1000 genomes]
rs1953739	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28473512	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28539353	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35231647	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4470077	0.93[ASN][1000 genomes]
rs7156493	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7156648	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7160191	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003684	0.81[ASN][1000 genomes]
rs8003863	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8004015	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8004299	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8005636	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8016239	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016831	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS 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	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55890600-55900600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:55896800-55901000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:55896800-55901400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:55897000-55900000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:55897000-55901000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:55897000-55901000	Weak transcription	Hela-S3	cervix
7	chr14:55897000-55901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:55897000-55901400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55897000-55901400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:55897000-55901400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:55897400-55899800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:55897400-55900000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:55897400-55900000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:55897400-55900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:55897400-55900200	Weak transcription	Fetal Thymus	thymus
16	chr14:55897800-55907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:55899000-55899800	Enhancers	Fetal Heart	heart
18	chr14:55899200-55900600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:55899400-55900400	Enhancers	Primary T cells from cord blood	blood
20	chr14:55899400-55900600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:55899400-55900600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:55899400-55900800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:55899600-55900400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:55899600-55902400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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