Variant report

Variant	rs3743297
Chromosome Location	chr15:62149784-62149785
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	NFYB	chr15:62149722-62150112	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:62148662..62150892-chr15:62154836..62157768,2	K562	blood:

Variant related genes	Relation type
VPS13C	TF binding region
ENSG00000129003	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1000598	0.85[CEU][hapmap]
rs11071642	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs11631970	0.85[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs11635569	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12437684	0.86[EUR][1000 genomes]
rs12439934	0.81[CEU][hapmap]
rs12708470	0.85[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12901481	0.85[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12906423	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12908081	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12908182	0.84[EUR][1000 genomes]
rs12908472	0.90[EUR][1000 genomes]
rs12911564	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915295	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915825	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12916268	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13379492	0.91[EUR][1000 genomes]
rs13379947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1346035	0.80[EUR][1000 genomes]
rs1346037	0.80[EUR][1000 genomes]
rs1425270	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17205225	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17271144	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17271151	0.85[CEU][hapmap]
rs17271158	0.80[EUR][1000 genomes]
rs17271193	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17271340	0.85[CEU][hapmap]
rs1981916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981917	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414753	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2414755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28373613	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28411984	0.91[EUR][1000 genomes]
rs34965045	0.90[EUR][1000 genomes]
rs3784634	0.81[CEU][hapmap]
rs3809517	0.83[CEU][hapmap]
rs4283171	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4587915	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4774422	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4774427	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs4775453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7166891	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7170293	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7172145	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7172967	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7179506	0.91[EUR][1000 genomes]
rs748669	0.86[EUR][1000 genomes]
rs8032681	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8034185	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs8034216	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs8034335	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs963024	0.88[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904284	chr15:62123600-62243197	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv521334	chr15:62129809-62340126	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv527451	chr15:62129809-62340126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904285	chr15:62146598-62246864	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv904286	chr15:62146598-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv904287	chr15:62146598-62338797	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv904288	chr15:62146598-62356386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62132400-62159000	Weak transcription	HSMM	muscle
2	chr15:62132400-62171200	Weak transcription	HMEC	breast
3	chr15:62135000-62161600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr15:62136800-62150000	Weak transcription	HSMMtube	muscle
5	chr15:62138800-62184200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:62139200-62182200	Weak transcription	Brain Substantia Nigra	brain
7	chr15:62139400-62154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:62139800-62185200	Weak transcription	NHLF	lung
9	chr15:62140000-62184800	Weak transcription	Right Ventricle	heart
10	chr15:62140200-62180000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:62141200-62165400	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:62141400-62160600	Weak transcription	Placenta	Placenta
13	chr15:62141400-62161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:62141600-62161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:62141600-62165000	Weak transcription	Thymus	Thymus
16	chr15:62142000-62165000	Weak transcription	Gastric	stomach
17	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
18	chr15:62142200-62161600	Weak transcription	Fetal Stomach	stomach
19	chr15:62142200-62162800	Weak transcription	Hela-S3	cervix
20	chr15:62142400-62160800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:62142400-62163800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
23	chr15:62142600-62209200	Weak transcription	K562	blood
24	chr15:62143000-62164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:62143200-62151800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:62143200-62152400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:62143800-62182200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
29	chr15:62144000-62159800	Weak transcription	Osteobl	bone
30	chr15:62144000-62194600	Weak transcription	Fetal Lung	lung
31	chr15:62144200-62160600	Weak transcription	Fetal Thymus	thymus
32	chr15:62144400-62153200	Weak transcription	Fetal Intestine Small	intestine
33	chr15:62144400-62155200	Weak transcription	Dnd41	blood
34	chr15:62144600-62154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:62144600-62155200	Weak transcription	A549	lung
36	chr15:62144800-62151400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:62144800-62161400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:62144800-62162400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:62144800-62184000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:62145200-62160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:62145200-62163400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:62145200-62182000	Weak transcription	NHEK	skin
43	chr15:62145400-62171600	Weak transcription	Stomach Mucosa	stomach
44	chr15:62145800-62149800	Weak transcription	Primary B cells from cord blood	blood
45	chr15:62145800-62182000	Weak transcription	Small Intestine	intestine
46	chr15:62146800-62150600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
48	chr15:62147000-62151000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:62147000-62161800	Weak transcription	NHDF-Ad	bronchial
50	chr15:62147000-62162800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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