Variant report

Variant	rs9991852
Chromosome Location	chr4:96284235-96284236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:96282890..96284742-chr4:96286355..96289329,2	K562	blood:
2	chr4:96283799..96284611-chr4:96465588..96466197,2	MCF-7	breast:
3	chr4:96077419..96078385-chr4:96283655..96284313,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10002089	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023581	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10024121	0.88[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10029550	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10516964	1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10516965	1.00[JPT][hapmap];0.88[YRI][hapmap]
rs11097467	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11728047	1.00[ASN][1000 genomes]
rs11735824	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11943290	1.00[ASN][1000 genomes]
rs1384868	1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1586163	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17023493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17023540	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023543	1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17023545	1.00[ASN][1000 genomes]
rs17023617	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023627	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023644	1.00[JPT][hapmap]
rs17023654	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs17369242	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2621442	1.00[ASN][1000 genomes]
rs2621443	1.00[ASN][1000 genomes]
rs2621446	1.00[ASN][1000 genomes]
rs2626054	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2626055	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2626056	1.00[ASN][1000 genomes]
rs28368523	1.00[ASN][1000 genomes]
rs28369639	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417701	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28475150	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494154	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526447	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537146	1.00[ASN][1000 genomes]
rs28615872	0.85[EUR][1000 genomes]
rs28621043	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28631733	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28689658	1.00[ASN][1000 genomes]
rs28692541	1.00[ASN][1000 genomes]
rs6532552	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs66536449	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66625786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66969062	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67577599	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67681548	0.82[EUR][1000 genomes]
rs67892114	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816110	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821360	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822806	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs6845966	0.85[EUR][1000 genomes]
rs6848909	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857369	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676414	0.82[EUR][1000 genomes]
rs72676415	0.82[EUR][1000 genomes]
rs72676421	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676442	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687905	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9999043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001955	chr4:96216118-96445841	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96239600-96284400	Weak transcription	Aorta	Aorta
2	chr4:96273800-96285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:96278800-96295600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:96279200-96284600	Enhancers	Fetal Lung	lung
5	chr4:96280000-96284400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:96281800-96284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:96281800-96285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:96282600-96284400	Enhancers	K562	blood
9	chr4:96282800-96284600	Weak transcription	Fetal Kidney	kidney
10	chr4:96282800-96285000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:96283000-96284400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:96283400-96285200	Enhancers	Brain Germinal Matrix	brain
13	chr4:96283600-96284800	Weak transcription	Pancreas	Pancrea
14	chr4:96283600-96284800	Weak transcription	Osteobl	bone
15	chr4:96283600-96285400	Enhancers	Fetal Stomach	stomach
16	chr4:96283800-96284400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:96283800-96284800	Active TSS	Brain Anterior Caudate	brain
18	chr4:96283800-96284800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:96284000-96284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:96284200-96284400	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr4:96284200-96284400	Flanking Active TSS	Ovary	ovary
22	chr4:96284200-96284600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:96284200-96284600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr4:96284200-96284800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:96284200-96284800	Active TSS	Brain Angular Gyrus	brain
26	chr4:96284200-96285000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:96284200-96285000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:96284200-96285000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:96284200-96285400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr4:96284200-96285600	Enhancers	Duodenum Smooth Muscle	Duodenum

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