Variant report

Variant	rs387005
Chromosome Location	chr15:59010065-59010066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59007785..59010313-chr15:59010988..59013487,2	K562	blood:
2	chr15:59007785..59010098-chr15:59010167..59012488,3	K562	blood:
3	chr15:59004920..59006793-chr15:59008060..59010372,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11631244	1.00[CEU][hapmap]
rs11631334	0.81[AMR][1000 genomes]
rs11632492	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11638416	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11639208	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs16940571	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16940810	1.00[CEU][hapmap]
rs17190720	0.81[AMR][1000 genomes]
rs2555787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2657126	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347119	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347122	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs384322	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs390390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415403	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs424346	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs437549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs602921	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6494025	1.00[CEU][hapmap]
rs73426525	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73426541	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs793417	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58983200-59016600	Weak transcription	Small Intestine	intestine
3	chr15:58986600-59016600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:58987400-59012000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:58989800-59016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:58991800-59012200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:58992000-59010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:58992000-59015800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:58992000-59023000	Weak transcription	Esophagus	oesophagus
11	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
12	chr15:58992400-59011600	Weak transcription	HUVEC	blood vessel
13	chr15:58992400-59012000	Weak transcription	Brain Anterior Caudate	brain
14	chr15:58992600-59016600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:58992600-59021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:58993200-59010200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:58993200-59010800	Weak transcription	K562	blood
18	chr15:58993400-59010600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:58994400-59012400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:58994400-59016400	Weak transcription	Adipose Nuclei	Adipose
21	chr15:58996000-59016600	Weak transcription	Colonic Mucosa	Colon
22	chr15:58996200-59016800	Weak transcription	Psoas Muscle	Psoas
23	chr15:58996600-59016600	Weak transcription	NHLF	lung
24	chr15:58996600-59016800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:58996800-59010800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:58998400-59016600	Weak transcription	Osteobl	bone
27	chr15:58998600-59016600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:58998600-59016800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:58999000-59013600	Weak transcription	Right Ventricle	heart
30	chr15:58999000-59023800	Weak transcription	Gastric	stomach
31	chr15:59000600-59012200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:59002400-59016200	Weak transcription	Left Ventricle	heart
33	chr15:59003400-59016400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:59003800-59012400	Strong transcription	Fetal Thymus	thymus
35	chr15:59003800-59016600	Weak transcription	NH-A	brain
36	chr15:59004000-59013000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:59004200-59015600	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:59004600-59010200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:59005000-59010200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:59005000-59010400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:59005200-59022400	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:59005600-59021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:59005600-59023000	Weak transcription	Spleen	Spleen
44	chr15:59005600-59023600	Weak transcription	NHEK	skin
45	chr15:59005800-59010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:59005800-59022800	Weak transcription	HMEC	breast
47	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:59006200-59010600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:59006200-59023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea

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