Variant report

Variant	rs59566518
Chromosome Location	chr7:3056567-3056568
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	chr7:3045663..3048407-chr7:3054580..3056953,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10244865	1.00[EUR][1000 genomes]
rs1317753	1.00[EUR][1000 genomes]
rs2396974	1.00[EUR][1000 genomes]
rs28493200	1.00[EUR][1000 genomes]
rs28507235	1.00[EUR][1000 genomes]
rs41327044	1.00[EUR][1000 genomes]
rs41339146	1.00[EUR][1000 genomes]
rs41367746	1.00[EUR][1000 genomes]
rs41377947	1.00[EUR][1000 genomes]
rs41435148	1.00[EUR][1000 genomes]
rs41447249	1.00[EUR][1000 genomes]
rs41455246	1.00[EUR][1000 genomes]
rs41477951	1.00[EUR][1000 genomes]
rs4310111	1.00[EUR][1000 genomes]
rs4624930	1.00[EUR][1000 genomes]
rs57451179	1.00[EUR][1000 genomes]
rs57688543	1.00[EUR][1000 genomes]
rs6952412	1.00[EUR][1000 genomes]
rs6957807	1.00[EUR][1000 genomes]
rs6965863	1.00[EUR][1000 genomes]
rs6968350	1.00[EUR][1000 genomes]
rs6971650	1.00[EUR][1000 genomes]
rs6977383	1.00[EUR][1000 genomes]
rs6977622	1.00[EUR][1000 genomes]
rs6978186	1.00[EUR][1000 genomes]
rs73292766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs746009	1.00[EUR][1000 genomes]
rs7784716	1.00[EUR][1000 genomes]
rs7784813	1.00[EUR][1000 genomes]
rs7785010	1.00[EUR][1000 genomes]
rs7802270	1.00[EUR][1000 genomes]

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	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
4	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
6	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3034200-3058800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:3036000-3059400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:3040200-3060200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:3045400-3059000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:3051400-3059400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:3051600-3059800	Strong transcription	Primary T cells from cord blood	blood
7	chr7:3052000-3059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:3052400-3058800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:3052400-3059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:3052600-3059600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:3053000-3059000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:3053200-3059200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:3053600-3058200	Weak transcription	Fetal Thymus	thymus
14	chr7:3053600-3059800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:3053800-3059600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:3054400-3058200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:3054400-3059200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:3054600-3059000	Weak transcription	GM12878-XiMat	blood
19	chr7:3054600-3066600	Weak transcription	Spleen	Spleen
20	chr7:3055000-3056800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:3055000-3059200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:3055400-3056600	Weak transcription	Thymus	Thymus
23	chr7:3055600-3056600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:3055600-3059600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:3055800-3057000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:3055800-3059000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:3055800-3059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:3056000-3056600	Weak transcription	Primary B cells from cord blood	blood
29	chr7:3056200-3059600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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