Variant report

Variant	rs58053975
Chromosome Location	chr6:15300681-15300682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15278983..15281973-chr6:15299059..15301860,2	K562	blood:
2	chr6:15210366..15212939-chr6:15300598..15303177,2	K562	blood:
3	chr6:15250579..15252953-chr6:15298506..15301463,2	K562	blood:
4	chr6:15253059..15254782-chr6:15298383..15301127,2	K562	blood:
5	chr6:15211281..15212832-chr6:15299599..15301469,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11968075	1.00[AMR][1000 genomes]
rs16876233	1.00[AMR][1000 genomes]
rs3857641	1.00[AMR][1000 genomes]
rs56156626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361576	1.00[AMR][1000 genomes]
rs794777	0.90[AFR][1000 genomes]
rs794778	0.90[AFR][1000 genomes]
rs794779	0.90[AFR][1000 genomes]
rs794783	0.96[AFR][1000 genomes]
rs794785	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15290600-15309400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:15292000-15303600	Weak transcription	Ovary	ovary
3	chr6:15293000-15301200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr6:15293000-15302800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:15293600-15302000	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:15294000-15301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:15294000-15303400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:15294200-15302200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:15294400-15303600	Weak transcription	Brain Germinal Matrix	brain
10	chr6:15295000-15303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:15295000-15305600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:15295800-15301000	Enhancers	Fetal Thymus	thymus
13	chr6:15295800-15311400	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:15296000-15301000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr6:15296000-15301000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:15296000-15301600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:15296000-15302200	Enhancers	Primary B cells from cord blood	blood
18	chr6:15296000-15302400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:15296000-15302800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:15296200-15301600	Enhancers	Primary T cells from cord blood	blood
21	chr6:15296200-15301800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:15296600-15300800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:15296600-15301000	Enhancers	Left Ventricle	heart
24	chr6:15296600-15303400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:15296600-15305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:15297000-15301600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:15297400-15301800	Enhancers	Small Intestine	intestine
28	chr6:15297800-15301800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:15297800-15302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:15298000-15300800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:15298000-15300800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:15298000-15302400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:15298200-15300800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:15298200-15301000	Enhancers	Brain Hippocampus Middle	brain
35	chr6:15298200-15302000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr6:15298200-15302400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:15298400-15301200	Enhancers	Psoas Muscle	Psoas
38	chr6:15298400-15301200	Enhancers	Right Atrium	heart
39	chr6:15298400-15302200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:15298400-15302200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:15298600-15301000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:15298600-15301600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:15298800-15300800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:15298800-15301200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:15299000-15300800	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:15299000-15300800	Enhancers	HepG2	liver
47	chr6:15299000-15300800	Enhancers	Osteobl	bone
48	chr6:15299000-15301200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:15299000-15301200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:15299000-15301200	Flanking Active TSS	K562	blood

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