Variant report

Variant	rs2288428
Chromosome Location	chr19:18544467-18544468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
2	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
3	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
4	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
5	chr19:18392120..18393655-chr19:18544047..18545817,2	K562	blood:
6	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
7	chr19:18385251..18388025-chr19:18541664..18544540,2	K562	blood:
8	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267959	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000267533	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10164319	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10403249	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10405479	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10405636	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10408290	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10409003	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10409483	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10409505	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411009	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10413237	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10419404	0.83[ASN][1000 genomes]
rs10425982	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10427083	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1043327	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10442	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11673604	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12162221	0.82[ASN][1000 genomes]
rs12162223	0.80[ASN][1000 genomes]
rs12981981	0.82[ASN][1000 genomes]
rs1560118	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560119	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172032	0.82[ASN][1000 genomes]
rs1806980	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007981	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303695	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303696	0.91[ASN][1000 genomes]
rs2303697	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385088	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385089	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs271621	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs271622	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs271623	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs271624	0.86[ASN][1000 genomes]
rs271626	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs271628	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs271629	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28375303	0.83[ASN][1000 genomes]
rs28572537	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34010330	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34053595	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34171762	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34256197	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34509804	0.82[ASN][1000 genomes]
rs34746918	0.95[ASN][1000 genomes]
rs3810429	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4595905	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808133	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808134	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808136	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808801	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808804	0.91[ASN][1000 genomes]
rs62121135	0.82[ASN][1000 genomes]
rs7249020	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7251653	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252707	0.90[ASN][1000 genomes]
rs7252848	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253990	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7254249	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7256534	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7257932	0.90[ASN][1000 genomes]
rs7258465	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs748609	0.95[ASN][1000 genomes]
rs76194	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs76195	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8100767	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8103622	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8103660	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105994	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8106096	0.97[ASN][1000 genomes]
rs8107347	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8107351	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8107367	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8107743	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109573	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8111708	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs875396	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking 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	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
15	esv3429815	chr19:18543377-18545925	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2288428	SSBP4	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:18540800-18545400	Weak transcription	A549	lung
5	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
6	chr19:18541600-18546800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:18541600-18548000	Weak transcription	Stomach Mucosa	stomach
8	chr19:18541800-18545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:18542600-18548000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:18542800-18545800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:18543200-18545400	Enhancers	Spleen	Spleen
12	chr19:18543400-18546200	Enhancers	Fetal Brain Male	brain
13	chr19:18543600-18545200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:18543600-18545200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:18543600-18545400	Active TSS	Fetal Brain Female	brain
16	chr19:18543800-18544800	Active TSS	Colonic Mucosa	Colon
17	chr19:18543800-18545000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:18543800-18545200	Active TSS	NHEK	skin
19	chr19:18543800-18545200	Active TSS	Osteobl	bone
20	chr19:18543800-18545400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:18543800-18545400	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:18544000-18544800	Active TSS	Psoas Muscle	Psoas
23	chr19:18544000-18545000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:18544000-18545000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:18544000-18545000	Active TSS	Aorta	Aorta
26	chr19:18544000-18545000	Active TSS	Brain Cingulate Gyrus	brain
27	chr19:18544000-18545000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:18544000-18545000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:18544000-18545000	Weak transcription	Fetal Heart	heart
30	chr19:18544000-18545000	Active TSS	Fetal Intestine Large	intestine
31	chr19:18544000-18545200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:18544000-18545200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr19:18544000-18545200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr19:18544000-18545200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:18544000-18545200	Active TSS	Small Intestine	intestine
36	chr19:18544000-18545400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr19:18544000-18546400	Weak transcription	Dnd41	blood
38	chr19:18544200-18544600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr19:18544200-18544800	Active TSS	Primary B cells from peripheral blood	blood
40	chr19:18544200-18544800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr19:18544200-18544800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:18544200-18544800	Active TSS	Brain Germinal Matrix	brain
43	chr19:18544200-18544800	Active TSS	Colon Smooth Muscle	Colon
44	chr19:18544200-18544800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr19:18544200-18544800	Active TSS	Fetal Stomach	stomach
46	chr19:18544200-18544800	Transcr. at gene 5' and 3'	Right Atrium	heart
47	chr19:18544200-18544800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr19:18544200-18545000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:18544200-18545000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr19:18544200-18545000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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