Variant report

Variant	rs1544520
Chromosome Location	chr4:3270844-3270845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3268743..3271551-chr4:3273568..3275857,3	MCF-7	breast:
2	chr4:3265031..3267765-chr4:3268616..3271432,2	K562	blood:
3	chr4:3243269..3245646-chr4:3270348..3272217,2	MCF-7	breast:
4	chr4:3269730..3272201-chr4:3294200..3296416,2	MCF-7	breast:
5	chr4:3269278..3270856-chr4:3292386..3294072,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16844106	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936032	1.00[CEU][hapmap]
rs60888991	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790518	1.00[ASN][1000 genomes]
rs7661198	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678857	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7680197	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv470003	chr4:3215835-3275484	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
7	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv878457	chr4:3231661-3278517	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv878460	chr4:3260154-3303976	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription 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 miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1544520	CYB5D1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3252400-3271400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:3255800-3271000	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:3257000-3271800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:3258400-3271000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:3258400-3271000	Weak transcription	Right Ventricle	heart
7	chr4:3258400-3271000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:3260200-3278200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:3264200-3273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:3269200-3272400	Enhancers	Fetal Brain Male	brain
11	chr4:3269400-3271000	Enhancers	Placenta	Placenta
12	chr4:3269400-3271200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:3269400-3271400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:3269400-3271400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:3269400-3272400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:3269400-3272600	Enhancers	Fetal Brain Female	brain
17	chr4:3269400-3273200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:3269600-3271400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:3269600-3272400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:3269600-3272800	Enhancers	Fetal Muscle Leg	muscle
21	chr4:3269800-3272000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:3269800-3272400	Enhancers	Brain Germinal Matrix	brain
23	chr4:3270000-3271400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:3270000-3274400	Weak transcription	Gastric	stomach
25	chr4:3270200-3271000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:3270200-3271000	Enhancers	Pancreas	Pancrea
27	chr4:3270400-3271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:3270600-3271000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr4:3270600-3271400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:3270800-3271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:3270800-3271800	Enhancers	HSMM	muscle
32	chr4:3270800-3272400	Enhancers	Fetal Heart	heart
33	chr4:3270800-3272800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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