Variant report

Variant	rs2285087
Chromosome Location	chr4:3088211-3088212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3081667..3084518-chr4:3085377..3088342,3	K562	blood:
2	chr4:3082361..3085504-chr4:3087676..3091805,3	K562	blood:
3	chr4:3075920..3077943-chr4:3087601..3090222,2	K562	blood:
4	chr4:3076425..3077993-chr4:3087345..3089440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16843804	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16843836	0.89[ASN][1000 genomes]
rs17780797	0.85[ASN][1000 genomes]
rs2024115	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071655	0.86[ASN][1000 genomes]
rs2285086	0.99[ASN][1000 genomes]
rs28867436	0.99[ASN][1000 genomes]
rs3856973	0.91[ASN][1000 genomes]
rs4498089	0.90[ASN][1000 genomes]
rs4690071	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690072	0.85[ASN][1000 genomes]
rs55962025	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58666167	0.86[AFR][1000 genomes]
rs59797128	0.90[AFR][1000 genomes]
rs61348208	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6446722	0.85[ASN][1000 genomes]
rs6446723	0.86[ASN][1000 genomes]
rs6855981	0.91[AFR][1000 genomes]
rs73191188	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7659144	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7691627	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3077400-3093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:3077800-3089000	Weak transcription	Aorta	Aorta
3	chr4:3077800-3096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3078000-3088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:3078000-3088600	Weak transcription	Lung	lung
6	chr4:3078000-3088800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:3078000-3088800	Weak transcription	Thymus	Thymus
8	chr4:3078000-3094600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:3078000-3094600	Weak transcription	Esophagus	oesophagus
10	chr4:3078000-3097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:3078000-3097600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:3078000-3101000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:3078000-3103000	Weak transcription	Colonic Mucosa	Colon
14	chr4:3078200-3089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:3078200-3089000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:3078200-3094600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:3078200-3101000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:3078200-3109800	Weak transcription	Stomach Mucosa	stomach
19	chr4:3078400-3091600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:3078400-3093200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:3078400-3094600	Weak transcription	A549	lung
22	chr4:3078400-3097000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:3078400-3102200	Weak transcription	Hela-S3	cervix
24	chr4:3078400-3107000	Weak transcription	HMEC	breast
25	chr4:3078600-3088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:3078600-3088400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:3078600-3088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:3078600-3088600	Weak transcription	NH-A	brain
29	chr4:3078600-3088600	Weak transcription	Osteobl	bone
30	chr4:3078600-3088800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:3078600-3088800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:3078600-3088800	Weak transcription	Adipose Nuclei	Adipose
33	chr4:3078600-3088800	Weak transcription	HUVEC	blood vessel
34	chr4:3078600-3089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:3078600-3089000	Weak transcription	Fetal Lung	lung
36	chr4:3078600-3090200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:3078600-3090200	Weak transcription	HSMM	muscle
38	chr4:3078600-3094200	Weak transcription	Fetal Brain Female	brain
39	chr4:3078600-3094200	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:3078600-3094200	Weak transcription	HSMMtube	muscle
41	chr4:3078600-3094600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:3078600-3094600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:3078600-3101000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:3078600-3113800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:3078800-3088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:3078800-3088400	Weak transcription	Fetal Thymus	thymus
47	chr4:3078800-3088600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:3078800-3089000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:3078800-3089000	Weak transcription	Fetal Intestine Large	intestine
50	chr4:3078800-3108800	Weak transcription	Psoas Muscle	Psoas

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