Variant report

Variant	rs1584346
Chromosome Location	chr4:87839844-87839845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr4:87839630-87839908	GM12878	blood:	n/a	n/a
2	RUNX3	chr4:87839621-87839980	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:87839626-87840094	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87831113..87833915-chr4:87837544..87840445,2	K562	blood:

Variant related genes	Relation type
ENSG00000251411	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10022539	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12651081	0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs13102958	0.80[ASN][1000 genomes]
rs13116978	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2594277	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2594278	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2594279	0.92[ASN][1000 genomes]
rs2705616	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2705618	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3109038	0.80[ASN][1000 genomes]
rs3113493	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113494	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113495	0.92[ASN][1000 genomes]
rs4274814	0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs4536898	0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs991852	0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv980228	chr4:87834452-87845024	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87825600-87846000	Weak transcription	Gastric	stomach
2	chr4:87825600-87849400	Weak transcription	Lung	lung
3	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
4	chr4:87825800-87843600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
7	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
8	chr4:87826000-87852400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:87826200-87841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:87826200-87843000	Weak transcription	Liver	Liver
11	chr4:87826200-87843400	Weak transcription	Brain Substantia Nigra	brain
12	chr4:87829800-87855000	Weak transcription	Aorta	Aorta
13	chr4:87830200-87849600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:87830400-87847600	Weak transcription	Thymus	Thymus
16	chr4:87830400-87847800	Weak transcription	Psoas Muscle	Psoas
17	chr4:87830400-87849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:87830400-87854600	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:87830600-87843000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:87830600-87843400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:87830600-87843400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:87830600-87845600	Weak transcription	Left Ventricle	heart
23	chr4:87831000-87855000	Weak transcription	Fetal Lung	lung
24	chr4:87831400-87854400	Weak transcription	Fetal Heart	heart
25	chr4:87831400-87854800	Weak transcription	Right Atrium	heart
26	chr4:87831800-87840200	Weak transcription	Primary B cells from cord blood	blood
27	chr4:87832200-87854800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:87832800-87840200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:87835200-87849000	Weak transcription	Pancreas	Pancrea
30	chr4:87837000-87841800	Enhancers	K562	blood
31	chr4:87837200-87854400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:87837400-87840000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:87838400-87843800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:87838400-87855000	Weak transcription	Colonic Mucosa	Colon
35	chr4:87838600-87844000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr4:87838800-87840200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:87838800-87843000	Weak transcription	Hela-S3	cervix
38	chr4:87838800-87844000	Enhancers	NHDF-Ad	bronchial
39	chr4:87839000-87840000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:87839000-87850200	Enhancers	Placenta	Placenta
41	chr4:87839200-87840000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:87839200-87840000	Enhancers	GM12878-XiMat	blood
43	chr4:87839200-87841000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:87839200-87841200	Enhancers	Fetal Intestine Large	intestine
45	chr4:87839400-87840200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:87839400-87840200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:87839400-87840400	Enhancers	HSMMtube	muscle
48	chr4:87839400-87840400	Enhancers	NHLF	lung
49	chr4:87839400-87840600	Enhancers	Adipose Nuclei	Adipose
50	chr4:87839400-87840600	Enhancers	HMEC	breast

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