Variant report

Variant	rs387812
Chromosome Location	chr15:59074786-59074787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59037438..59039932-chr15:59074278..59075927,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11071398	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11638244	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs11854073	0.81[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs12594872	1.00[CHB][hapmap]
rs12899638	0.88[CHB][hapmap];0.95[YRI][hapmap]
rs12900643	0.88[CHB][hapmap]
rs1427282	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs1469343	1.00[CHB][hapmap]
rs1648532	0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17190727	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2555356	0.87[YRI][hapmap]
rs2555357	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2604453	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2604454	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2657125	0.95[YRI][hapmap]
rs28864995	1.00[LWK][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap]
rs347115	0.85[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs347117	0.81[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs379879	0.87[EUR][1000 genomes]
rs383902	0.88[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs395601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411007	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs421829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4275799	1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap]
rs442495	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs446126	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs452698	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs474875	0.81[CEU][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4775087	0.81[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs4775094	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs514049	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs596379	0.92[AFR][1000 genomes]
rs605928	0.82[MKK][hapmap]
rs610877	1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6494029	1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs653765	0.81[MKK][hapmap]
rs673813	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs682619	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs688756	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs714696	0.94[YRI][hapmap]
rs7161889	1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs7166356	1.00[CHB][hapmap]
rs7168776	1.00[CHB][hapmap]
rs72745027	0.84[EUR][1000 genomes]
rs8043406	1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap]
rs972801	1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:59064600-59102800	Weak transcription	Lung	lung
4	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
5	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
6	chr15:59064600-59145600	Weak transcription	Gastric	stomach
7	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:59065800-59077800	Weak transcription	Psoas Muscle	Psoas
11	chr15:59065800-59082600	Weak transcription	Placenta	Placenta
12	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
14	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:59065800-59103200	Weak transcription	NH-A	brain
16	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
17	chr15:59066000-59074800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:59066000-59085200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:59066000-59095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:59066000-59102400	Weak transcription	HSMM	muscle
21	chr15:59066200-59081600	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:59066200-59084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:59066200-59095000	Weak transcription	Osteobl	bone
24	chr15:59066200-59095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:59066400-59084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:59066400-59085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:59066400-59091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:59066400-59095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:59066400-59095000	Weak transcription	Fetal Intestine Large	intestine
30	chr15:59066600-59078200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:59066600-59102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:59066800-59077000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:59066800-59078600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:59067000-59082600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:59067000-59083600	Weak transcription	HMEC	breast
36	chr15:59067000-59094600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:59067000-59094800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:59067000-59102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:59067000-59102800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:59067000-59102800	Weak transcription	NHDF-Ad	bronchial
41	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
42	chr15:59067200-59077400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:59067200-59080400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:59067200-59094800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:59067200-59095000	Weak transcription	Fetal Lung	lung
46	chr15:59067200-59103200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:59067400-59076000	Weak transcription	Thymus	Thymus
48	chr15:59067400-59077200	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:59067400-59085400	Weak transcription	NHEK	skin
50	chr15:59067400-59102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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