Variant report

Variant	rs58299877
Chromosome Location	chr8:48173607-48173608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48105045..48107718-chr8:48171845..48174415,2	MCF-7	breast:
2	chr8:48109425..48112056-chr8:48171977..48173853,2	MCF-7	breast:
3	chr8:48171946..48174429-chr8:48608651..48611565,2	K562	blood:
4	chr8:48171892..48175366-chr8:48649107..48652421,3	K562	blood:
5	chr2:58273888..58274399-chr8:48172813..48173680,2	NB4	blood:
6	chr8:48170516..48173662-chr8:48648596..48652534,4	MCF-7	breast:
7	chr8:48171995..48173689-chr8:48187404..48189747,2	MCF-7	breast:
8	chr8:48171500..48174751-chr8:48648690..48652421,4	K562	blood:
9	chr1:156561278..156562049-chr8:48173375..48174218,2	Hela-S3	cervix:
10	chr6:35436149..35436774-chr8:48173185..48173690,2	HCT-116	colon:
11	chr8:48173494..48174253-chr8:48651177..48651793,2	MCF-7	breast:
12	chr8:48172897..48175307-chr8:48189146..48191153,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253502	Chromatin interaction
ENSG00000164808	Chromatin interaction
ENSG00000028116	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000248347	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000163382	Chromatin interaction
ENSG00000253817	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10099236	0.88[EUR][1000 genomes]
rs10108778	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10441557	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10957370	0.87[EUR][1000 genomes]
rs11776864	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12547497	0.85[EUR][1000 genomes]
rs2362555	0.88[EUR][1000 genomes]
rs28855415	0.84[AFR][1000 genomes]
rs34506397	0.82[ASN][1000 genomes]
rs35332377	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873101	0.86[EUR][1000 genomes]
rs4873269	0.88[EUR][1000 genomes]
rs6473996	0.91[EUR][1000 genomes]
rs6981485	0.84[EUR][1000 genomes]
rs6987882	0.84[EUR][1000 genomes]
rs7825148	0.83[EUR][1000 genomes]
rs7828350	0.87[EUR][1000 genomes]
rs7832841	0.87[EUR][1000 genomes]
rs7846620	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48171800-48174200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:48172000-48174400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:48172200-48174400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:48172400-48174000	Active TSS	Liver	Liver
5	chr8:48172400-48174600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:48172600-48173800	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:48172600-48174000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:48172600-48174000	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:48172600-48174200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr8:48172600-48174400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:48172600-48174400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:48172600-48174400	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:48172800-48173800	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr8:48172800-48173800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:48172800-48174000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr8:48172800-48174000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:48172800-48174000	Active TSS	Brain Hippocampus Middle	brain
18	chr8:48172800-48174000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:48172800-48174000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr8:48172800-48174000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:48172800-48174200	Active TSS	Brain Anterior Caudate	brain
22	chr8:48172800-48174200	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:48172800-48174200	Active TSS	Brain Substantia Nigra	brain
24	chr8:48172800-48174200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:48172800-48174200	Active TSS	Fetal Kidney	kidney
26	chr8:48172800-48174200	Active TSS	Fetal Stomach	stomach
27	chr8:48172800-48174400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:48172800-48174400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:48172800-48174400	Active TSS	Brain Germinal Matrix	brain
30	chr8:48172800-48174400	Active TSS	Duodenum Mucosa	Duodenum
31	chr8:48172800-48174400	Active TSS	Fetal Brain Female	brain
32	chr8:48172800-48174400	Active TSS	HSMMtube	muscle
33	chr8:48172800-48174600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:48172800-48174600	Active TSS	Brain Angular Gyrus	brain
35	chr8:48172800-48174600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:48172800-48174600	Active TSS	HSMM	muscle
37	chr8:48172800-48175000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:48173000-48173800	Active TSS	Adipose Nuclei	Adipose
39	chr8:48173000-48174000	Active TSS	Primary B cells from cord blood	blood
40	chr8:48173000-48174000	Active TSS	Primary T cells from cord blood	blood
41	chr8:48173000-48174000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:48173000-48174000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:48173000-48174000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr8:48173000-48174000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:48173000-48174000	Active TSS	Spleen	Spleen
46	chr8:48173000-48174000	Active TSS	HUVEC	blood vessel
47	chr8:48173000-48174000	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:48173000-48174200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:48173000-48174200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:48173000-48174200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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