Variant report

Variant	rs72644587
Chromosome Location	chr8:48174372-48174373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48174168..48176912-chr8:48650072..48652496,2	MCF-7	breast:
2	chr8:48105045..48107718-chr8:48171845..48174415,2	MCF-7	breast:
3	chr8:48171946..48174429-chr8:48608651..48611565,2	K562	blood:
4	chr8:48171892..48175366-chr8:48649107..48652421,3	K562	blood:
5	chr8:48171500..48174751-chr8:48648690..48652421,4	K562	blood:
6	chr8:48174101..48175733-chr8:48185655..48187954,2	K562	blood:
7	chr8:48172897..48175307-chr8:48189146..48191153,2	K562	blood:

Variant related genes	Relation type
ENSG00000253502	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10107926	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10481296	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12216833	0.87[EUR][1000 genomes]
rs1552667	0.93[EUR][1000 genomes]
rs16927307	0.83[EUR][1000 genomes]
rs55841214	0.80[EUR][1000 genomes]
rs55918561	0.83[EUR][1000 genomes]
rs56107210	0.82[EUR][1000 genomes]
rs58828084	0.82[EUR][1000 genomes]
rs6989958	0.87[EUR][1000 genomes]
rs6992139	0.87[EUR][1000 genomes]
rs7011833	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72644585	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72644597	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72644602	0.85[EUR][1000 genomes]
rs72646317	0.83[EUR][1000 genomes]
rs72646321	0.87[EUR][1000 genomes]
rs72646324	0.87[EUR][1000 genomes]
rs72646330	0.91[EUR][1000 genomes]
rs72646348	0.83[EUR][1000 genomes]
rs72646350	0.83[EUR][1000 genomes]
rs7822371	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7829543	0.83[EUR][1000 genomes]
rs7834901	0.93[EUR][1000 genomes]
rs7839055	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643810	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9644195	0.83[ASN][1000 genomes]
rs9650144	0.87[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48172000-48174400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:48172200-48174400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:48172400-48174600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr8:48172600-48174400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:48172600-48174400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:48172600-48174400	Active TSS	Rectal Smooth Muscle	rectum
7	chr8:48172800-48174400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:48172800-48174400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:48172800-48174400	Active TSS	Brain Germinal Matrix	brain
10	chr8:48172800-48174400	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:48172800-48174400	Active TSS	Fetal Brain Female	brain
12	chr8:48172800-48174400	Active TSS	HSMMtube	muscle
13	chr8:48172800-48174600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:48172800-48174600	Active TSS	Brain Angular Gyrus	brain
15	chr8:48172800-48174600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:48172800-48174600	Active TSS	HSMM	muscle
17	chr8:48172800-48175000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:48173000-48174400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:48173000-48174400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:48173000-48174400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:48173000-48174400	Active TSS	Colon Smooth Muscle	Colon
22	chr8:48173000-48174400	Active TSS	Fetal Intestine Large	intestine
23	chr8:48173000-48174400	Active TSS	Ovary	ovary
24	chr8:48173000-48174400	Active TSS	Psoas Muscle	Psoas
25	chr8:48173000-48174400	Active TSS	Right Ventricle	heart
26	chr8:48173000-48174400	Active TSS	Thymus	Thymus
27	chr8:48173000-48174600	Active TSS	A549	lung
28	chr8:48173000-48174600	Active TSS	NH-A	brain
29	chr8:48173000-48175000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:48173000-48175000	Active TSS	NHLF	lung
31	chr8:48173200-48174400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:48173200-48174400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:48173200-48174400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:48173200-48174400	Active TSS	Fetal Intestine Small	intestine
35	chr8:48173200-48174400	Active TSS	Fetal Muscle Trunk	muscle
36	chr8:48173200-48174400	Active TSS	Fetal Muscle Leg	muscle
37	chr8:48173200-48174400	Active TSS	Fetal Thymus	thymus
38	chr8:48173200-48174400	Active TSS	Right Atrium	heart
39	chr8:48173200-48174400	Active TSS	Stomach Mucosa	stomach
40	chr8:48173200-48174600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:48173200-48174600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:48173200-48174600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:48173200-48174600	Active TSS	NHDF-Ad	bronchial
44	chr8:48173200-48175000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:48173200-48175000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:48173200-48175200	Active TSS	Hela-S3	cervix
47	chr8:48173400-48174400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:48173400-48174400	Active TSS	Primary T cells fromperipheralblood	blood
49	chr8:48173400-48174400	Active TSS	HMEC	breast
50	chr8:48173400-48175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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