Variant report

Variant	rs2054806
Chromosome Location	chr8:91996117-91996118
allele	G/T
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	chr8:91650303..91653276-chr8:91994300..91997122,2	K562	blood:
2	chr8:91994788..91999054-chr8:92079277..92083347,7	K562	blood:
3	chr8:91995324..91997173-chr8:92051480..92053172,3	K562	blood:
4	chr8:91658730..91663792-chr8:91996044..91998781,4	K562	blood:
5	chr8:91737683..91740315-chr8:91995826..91997401,2	K562	blood:
6	chr8:91966394..91968978-chr8:91994771..91996720,2	K562	blood:
7	chr8:91994028..91996763-chr8:92049752..92051452,2	K562	blood:
8	chr8:91995673..92001053-chr8:92048725..92054416,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155100	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1002583	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs10106570	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10108616	0.96[MEX][hapmap]
rs1011254	0.83[MEX][hapmap]
rs1038545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1038546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1055146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808632	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10808633	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10808634	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1125229	0.96[MEX][hapmap]
rs1159962	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1160329	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11780153	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12546650	0.92[ASW][hapmap]
rs1352159	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs1352160	0.88[CEU][hapmap]
rs1354519	0.96[MEX][hapmap]
rs1354520	0.91[MEX][hapmap]
rs1386107	0.96[MEX][hapmap]
rs1386112	0.84[MEX][hapmap]
rs1386113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1471847	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486464	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1486465	0.84[MEX][hapmap]
rs1486468	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1504795	0.96[MEX][hapmap]
rs1552397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1825691	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1973282	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1973283	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2019889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2035595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2101378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129260	0.96[MEX][hapmap]
rs2339289	0.84[MEX][hapmap]
rs2631007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631011	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2631013	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2631015	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2631018	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631023	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631025	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631026	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631029	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631031	0.89[CEU][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2631032	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2677572	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2677574	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2677581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740772	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740773	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740774	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740778	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740779	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740780	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740781	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740784	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2740785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2740788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2740789	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2740791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2740796	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2740798	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740801	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2740802	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28404401	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28618232	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28675099	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35972814	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4419777	0.92[ASW][hapmap]
rs4529427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471261	0.96[MEX][hapmap]
rs7017683	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7018395	0.84[MEX][hapmap]
rs72664410	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7828122	0.87[MEX][hapmap]
rs7829663	1.00[MEX][hapmap]
rs7831333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7832881	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7837376	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs931336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs931337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs978559	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs978560	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs997898	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs997899	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1028201	chr8:91968527-92009964	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2054806	TP53INP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91964800-91996600	Weak transcription	Ovary	ovary
2	chr8:91971800-91996600	Weak transcription	Thymus	Thymus
3	chr8:91977800-91996200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:91978000-91996200	Weak transcription	Right Ventricle	heart
5	chr8:91978000-91996400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:91979200-91996600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:91979400-91996400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91979600-91996200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:91979800-91996800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:91980800-91996400	Weak transcription	Fetal Kidney	kidney
11	chr8:91981000-91996400	Weak transcription	Osteobl	bone
12	chr8:91981600-91996200	Weak transcription	NHLF	lung
13	chr8:91981600-91996400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:91981600-91996400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:91982400-91996600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:91983000-91996600	Weak transcription	Aorta	Aorta
17	chr8:91983000-91996800	Weak transcription	HSMM	muscle
18	chr8:91985400-91996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:91986800-91996400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:91986800-91996400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:91986800-91996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:91990200-91996800	Weak transcription	Left Ventricle	heart
23	chr8:91991400-91996200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:91991400-91996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:91991600-91996200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:91991800-91996200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:91992000-91996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:91992200-91996200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:91994000-91997800	Active TSS	Stomach Smooth Muscle	stomach
30	chr8:91994600-91996400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr8:91994600-91997400	Active TSS	Right Atrium	heart
32	chr8:91994800-91996400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:91995000-91997800	Active TSS	GM12878-XiMat	blood
34	chr8:91995000-91998000	Active TSS	Colon Smooth Muscle	Colon
35	chr8:91995200-91996200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:91995400-91996400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:91995400-91996400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:91995400-91996400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:91995400-91996600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:91995400-91998000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:91995400-91998000	Active TSS	K562	blood
42	chr8:91995600-91996200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:91995800-91996200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:91995800-91996200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:91995800-91998000	Active TSS	NHDF-Ad	bronchial
46	chr8:91996000-91996200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:91996000-91996400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:91996000-91996400	Enhancers	Fetal Heart	heart
49	chr8:91996000-91997000	Active TSS	Fetal Stomach	stomach
50	chr8:91996000-91998200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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