Variant report

Variant	rs1030888
Chromosome Location	chr15:74843323-74843324
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74835177..74840998-chr15:74841566..74844825,6	K562	blood:
2	chr15:74837964..74840998-chr15:74841652..74845839,5	K562	blood:

Variant related genes	Relation type
ENSG00000179361	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10459601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072491	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11072499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs1128628	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11543198	1.00[YRI][hapmap]
rs11857192	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12437988	0.81[AMR][1000 genomes]
rs12439054	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12443108	1.00[YRI][hapmap]
rs1866114	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs1992145	0.81[JPT][hapmap]
rs2415243	0.81[EUR][1000 genomes]
rs28854237	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2899826	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs4073149	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes]
rs4548815	0.82[EUR][1000 genomes]
rs4646421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4887156	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887158	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56274514	0.88[EUR][1000 genomes]
rs56291837	0.81[AMR][1000 genomes]
rs56363130	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59665282	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6495112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs7161990	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7174305	1.00[YRI][hapmap]
rs7175512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7497036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7497906	0.81[AMR][1000 genomes]
rs750608	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs8023786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8028893	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040120	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8040674	0.85[AMR][1000 genomes]
rs8041357	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs9788672	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74836200-74848000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:74836400-74846400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:74836600-74845800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr15:74838600-74847600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:74839000-74845800	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr15:74839000-74846200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:74839000-74846600	Weak transcription	Ovary	ovary
8	chr15:74839000-74855600	Weak transcription	Aorta	Aorta
9	chr15:74839000-74863400	Weak transcription	Gastric	stomach
10	chr15:74839000-74863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:74839200-74843600	Weak transcription	HSMMtube	muscle
12	chr15:74839200-74844800	Weak transcription	A549	lung
13	chr15:74839200-74845000	Strong transcription	Fetal Intestine Small	intestine
14	chr15:74839200-74845600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:74839200-74846600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:74839200-74847400	Weak transcription	Osteobl	bone
17	chr15:74839200-74847800	Weak transcription	Psoas Muscle	Psoas
18	chr15:74839200-74850000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:74839200-74856400	Weak transcription	Fetal Kidney	kidney
20	chr15:74839200-74859200	Weak transcription	HepG2	liver
21	chr15:74839200-74860800	Weak transcription	Colonic Mucosa	Colon
22	chr15:74839200-74862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:74839200-74865200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:74839200-74866400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:74839200-74866800	Weak transcription	Pancreas	Pancrea
26	chr15:74839400-74865800	Weak transcription	HUVEC	blood vessel
27	chr15:74839400-74880600	Weak transcription	Hela-S3	cervix
28	chr15:74839600-74862400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:74839800-74845200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:74840000-74844000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:74840000-74845600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:74840000-74845800	Strong transcription	Primary B cells from cord blood	blood
33	chr15:74840000-74846000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr15:74840000-74862000	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:74840200-74843400	Strong transcription	NHEK	skin
36	chr15:74840200-74844000	Strong transcription	HMEC	breast
37	chr15:74840200-74844400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:74840200-74845600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:74840400-74844800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:74840400-74845600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr15:74840400-74845600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:74840400-74845800	Strong transcription	Primary T cells from cord blood	blood
43	chr15:74840600-74843400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:74840600-74845600	Strong transcription	Fetal Thymus	thymus
45	chr15:74840600-74890400	Weak transcription	Stomach Mucosa	stomach
46	chr15:74840800-74845200	Weak transcription	Dnd41	blood
47	chr15:74840800-74845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:74840800-74862200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:74841000-74845000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:74841000-74845200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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