Variant report

Variant	rs1030417
Chromosome Location	chr15:42216018-42216019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42215835..42217701-chr15:42219642..42223208,3	K562	blood:
2	chr15:42212123..42215123-chr15:42215453..42219644,4	K562	blood:
3	chr15:42215883..42217701-chr15:42220776..42223208,2	K562	blood:
4	chr15:42212088..42214945-chr15:42215453..42219644,3	K562	blood:

Variant related genes	Relation type
ENSG00000259883	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1025227	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[EUR][1000 genomes]
rs1197696	1.00[EUR][1000 genomes]
rs1197698	1.00[EUR][1000 genomes]
rs1201692	1.00[EUR][1000 genomes]
rs12439786	1.00[JPT][hapmap]
rs1451047	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1530836	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1614205	1.00[EUR][1000 genomes]
rs1621597	0.91[ASW][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1648808	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648812	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1648813	0.87[AFR][1000 genomes]
rs1648819	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1648820	0.91[ASW][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs1668590	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668591	1.00[EUR][1000 genomes]
rs1704402	1.00[TSI][hapmap]
rs1704408	1.00[EUR][1000 genomes]
rs1704409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2724932	1.00[EUR][1000 genomes]
rs57032192	1.00[EUR][1000 genomes]
rs6493009	1.00[EUR][1000 genomes]
rs73410628	1.00[EUR][1000 genomes]
rs890497	1.00[EUR][1000 genomes]
rs890499	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs890500	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
6	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv976926	chr15:42202094-42217599	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42190400-42218600	Weak transcription	Fetal Lung	lung
2	chr15:42197200-42218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:42197400-42218600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:42202200-42218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:42202200-42218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:42204000-42217600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:42208400-42218800	Genic enhancers	HUVEC	blood vessel
10	chr15:42209200-42218000	Weak transcription	Fetal Thymus	thymus
11	chr15:42210400-42218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:42210600-42218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:42210600-42225400	Weak transcription	K562	blood
14	chr15:42210800-42217600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:42210800-42221400	Weak transcription	Brain Angular Gyrus	brain
16	chr15:42210800-42230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:42211200-42218400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:42211200-42218400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:42211200-42218800	Weak transcription	Hela-S3	cervix
20	chr15:42211400-42218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:42211400-42219800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:42211600-42216200	Enhancers	Left Ventricle	heart
23	chr15:42211600-42218000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr15:42211600-42221000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:42211600-42226200	Weak transcription	Thymus	Thymus
26	chr15:42211800-42218400	Weak transcription	Psoas Muscle	Psoas
27	chr15:42211800-42220800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:42211800-42220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:42211800-42221000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:42212000-42217800	Weak transcription	Primary T cells from cord blood	blood
31	chr15:42212000-42218000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:42212000-42218400	Weak transcription	Colonic Mucosa	Colon
33	chr15:42212000-42220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:42212000-42221000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:42212000-42224200	Weak transcription	Esophagus	oesophagus
36	chr15:42212000-42224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:42212000-42225400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:42212600-42216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:42212800-42218400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:42212800-42220200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:42213200-42221000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:42213600-42217200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:42213600-42218000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:42213800-42217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:42213800-42218400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:42213800-42218400	Weak transcription	Small Intestine	intestine
47	chr15:42214000-42216200	Weak transcription	Osteobl	bone
48	chr15:42214000-42217200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:42214000-42218400	Weak transcription	Pancreas	Pancrea
50	chr15:42214000-42218400	Weak transcription	NHDF-Ad	bronchial

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