Variant report

Variant	rs17051645
Chromosome Location	chr4:53512676-53512677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53506657..53508794-chr4:53511302..53513850,2	MCF-7	breast:
2	chr4:53512311..53515580-chr4:53524791..53527120,4	K562	blood:
3	chr4:53511997..53515901-chr4:53517451..53520031,4	K562	blood:

Variant related genes	Relation type
ENSG00000109189	Chromatin interaction
ENSG00000248866	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1053437	0.83[AMR][1000 genomes]
rs17051569	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051574	0.83[AMR][1000 genomes]
rs17051577	0.83[AMR][1000 genomes]
rs17051581	0.83[AMR][1000 genomes]
rs17051587	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051624	0.83[AMR][1000 genomes]
rs17051635	0.83[AMR][1000 genomes]
rs28430452	0.83[AMR][1000 genomes]
rs2898678	1.00[AMR][1000 genomes]
rs61704546	0.83[AMR][1000 genomes]
rs61761593	0.83[AMR][1000 genomes]
rs73135519	0.83[AMR][1000 genomes]
rs73152438	0.83[AMR][1000 genomes]
rs73152475	0.83[AMR][1000 genomes]
rs73152476	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2754049	chr4:53454272-53539672	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv524494	chr4:53459620-53582065	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53464200-53523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:53496600-53522800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:53505800-53517800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:53506600-53521200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:53507000-53514600	Enhancers	Fetal Brain Male	brain
6	chr4:53507600-53522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:53508000-53513800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:53508000-53523800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:53508200-53513800	Weak transcription	Fetal Kidney	kidney
10	chr4:53508400-53523800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:53508600-53522400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:53508800-53513200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:53509200-53514800	Enhancers	Left Ventricle	heart
14	chr4:53509400-53514400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:53509600-53523800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:53510000-53513600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:53510000-53518200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:53510000-53518400	Weak transcription	Brain Germinal Matrix	brain
19	chr4:53510200-53523800	Weak transcription	NHLF	lung
20	chr4:53510400-53512800	Weak transcription	Brain Substantia Nigra	brain
21	chr4:53510400-53512800	Weak transcription	Fetal Brain Female	brain
22	chr4:53510400-53513600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:53510400-53513600	Weak transcription	Adipose Nuclei	Adipose
24	chr4:53510400-53518400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:53510400-53523600	Weak transcription	Fetal Intestine Large	intestine
26	chr4:53510400-53523800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:53510400-53523800	Weak transcription	Fetal Stomach	stomach
28	chr4:53510400-53523800	Weak transcription	HSMM	muscle
29	chr4:53510600-53513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:53510600-53513800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:53510600-53513800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:53510600-53513800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:53510600-53513800	Weak transcription	Esophagus	oesophagus
34	chr4:53510600-53513800	Weak transcription	Spleen	Spleen
35	chr4:53510600-53513800	Weak transcription	HUVEC	blood vessel
36	chr4:53510600-53514000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:53510600-53514600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:53510600-53514600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:53510600-53515800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:53510600-53518200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:53510600-53518400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:53510600-53521000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:53510600-53521200	Weak transcription	Fetal Lung	lung
44	chr4:53510600-53523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:53510600-53523600	Weak transcription	Brain Angular Gyrus	brain
46	chr4:53510600-53523800	Weak transcription	NHDF-Ad	bronchial
47	chr4:53510800-53513000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:53510800-53513000	Weak transcription	Right Ventricle	heart
49	chr4:53510800-53513000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:53510800-53513000	Weak transcription	Stomach Smooth Muscle	stomach

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