Variant report

Variant	rs73002512
Chromosome Location	chr4:165878731-165878732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165868972..165872041-chr4:165876298..165879460,3	MCF-7	breast:
2	chr4:165874581..165877460-chr4:165878651..165880772,2	K562	blood:

Variant related genes	Relation type
ENSG00000236941	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010789	1.00[EUR][1000 genomes]
rs10471095	1.00[EUR][1000 genomes]
rs1112625	1.00[EUR][1000 genomes]
rs12331544	1.00[EUR][1000 genomes]
rs17045971	1.00[EUR][1000 genomes]
rs17046014	1.00[EUR][1000 genomes]
rs56273239	1.00[EUR][1000 genomes]
rs56773203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57046161	1.00[EUR][1000 genomes]
rs57723498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59095513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59321394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59526711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6832758	1.00[EUR][1000 genomes]
rs73001962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73002525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73871534	1.00[EUR][1000 genomes]
rs7440598	1.00[EUR][1000 genomes]
rs7690200	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019150	chr4:165505585-165907924	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv880382	chr4:165793001-165964290	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2757965	chr4:165801816-165976350	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv2759299	chr4:165801816-165976350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers 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
9	nsv528686	chr4:165814359-165930168	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv967697	chr4:165843736-165889668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1015970	chr4:165852926-165973078	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv830140	chr4:165855999-165956612	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2760876	chr4:165861386-165893486	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	esv20237	chr4:165861441-165883885	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
16	nsv10607	chr4:165861465-165886549	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
17	esv3692850	chr4:165868229-165879381	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
18	esv2421831	chr4:165868229-165882293	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165877200-165879000	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:165877400-165878800	Active TSS	Primary T cells from cord blood	blood
3	chr4:165877400-165879000	Active TSS	Stomach Smooth Muscle	stomach
4	chr4:165877600-165878800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr4:165877600-165878800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:165877600-165878800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:165877600-165878800	Active TSS	Fetal Brain Female	brain
8	chr4:165877600-165878800	Active TSS	Fetal Intestine Small	intestine
9	chr4:165877600-165879000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:165877600-165879000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:165877600-165879000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr4:165877600-165879000	Active TSS	A549	lung
13	chr4:165877600-165879200	Active TSS	NHDF-Ad	bronchial
14	chr4:165877600-165879400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr4:165877600-165879400	Active TSS	Brain Hippocampus Middle	brain
16	chr4:165877600-165879600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:165877600-165879600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:165877600-165879800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:165877600-165880000	Active TSS	Brain Germinal Matrix	brain
20	chr4:165877600-165880200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:165877600-165880200	Active TSS	HSMM	muscle
22	chr4:165877600-165880400	Active TSS	HSMMtube	muscle
23	chr4:165877800-165878800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:165877800-165878800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:165877800-165878800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:165877800-165878800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:165877800-165878800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:165877800-165878800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:165877800-165878800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr4:165877800-165878800	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr4:165877800-165878800	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:165877800-165878800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:165877800-165878800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr4:165877800-165878800	Active TSS	Aorta	Aorta
35	chr4:165877800-165878800	Active TSS	Brain Substantia Nigra	brain
36	chr4:165877800-165878800	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr4:165877800-165878800	Active TSS	Left Ventricle	heart
38	chr4:165877800-165878800	Active TSS	Ovary	ovary
39	chr4:165877800-165878800	Flanking Active TSS	Pancreas	Pancrea
40	chr4:165877800-165878800	Active TSS	Psoas Muscle	Psoas
41	chr4:165877800-165878800	Active TSS	Rectal Smooth Muscle	rectum
42	chr4:165877800-165879000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:165877800-165879000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr4:165877800-165879000	Active TSS	Fetal Intestine Large	intestine
45	chr4:165877800-165879000	Active TSS	Fetal Kidney	kidney
46	chr4:165877800-165879000	Active TSS	Fetal Lung	lung
47	chr4:165877800-165879000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr4:165877800-165879000	Active TSS	K562	blood
49	chr4:165877800-165879200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:165877800-165879200	Active TSS	Brain Anterior Caudate	brain

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