Variant report

Variant	rs4382479
Chromosome Location	chr8:10269419-10269420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10216979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10435713	0.84[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11249997	0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs12549419	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12674649	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12677754	0.80[AMR][1000 genomes]
rs12679662	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13249940	0.81[AMR][1000 genomes]
rs1986973	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4311657	0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4841331	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62493467	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997671	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1019701	chr8:10254709-10279269	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:10257000-10274400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:10258200-10274400	Weak transcription	Esophagus	oesophagus
5	chr8:10261200-10273000	Weak transcription	Primary B cells from cord blood	blood
6	chr8:10261800-10274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:10262000-10275200	Weak transcription	Psoas Muscle	Psoas
8	chr8:10263200-10271800	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:10263600-10275200	Weak transcription	Pancreas	Pancrea
10	chr8:10263600-10283400	Weak transcription	Fetal Intestine Small	intestine
11	chr8:10263800-10269800	Weak transcription	Spleen	Spleen
12	chr8:10265000-10270200	Weak transcription	Liver	Liver
13	chr8:10266800-10270200	Enhancers	Brain Germinal Matrix	brain
14	chr8:10267000-10269600	Enhancers	Left Ventricle	heart
15	chr8:10267200-10273200	Enhancers	Fetal Brain Male	brain
16	chr8:10267800-10269600	Enhancers	Primary T cells from cord blood	blood
17	chr8:10267800-10270600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:10267800-10271000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:10267800-10271200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:10267800-10275200	Weak transcription	Right Atrium	heart
21	chr8:10268000-10269600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:10268200-10269600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:10268200-10270400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:10268200-10272000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:10268200-10275200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:10268600-10270000	Enhancers	Brain Anterior Caudate	brain
27	chr8:10268600-10274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:10268800-10270200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:10268800-10271800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:10268800-10272000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:10269000-10269600	Enhancers	Fetal Brain Female	brain
32	chr8:10269000-10270200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:10269000-10270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:10269000-10270200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:10269000-10270200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:10269000-10270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:10269000-10271800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:10269200-10270200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:10269200-10271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:10269200-10272000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:10269200-10273000	Weak transcription	Fetal Thymus	thymus
42	chr8:10269400-10269600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:10269400-10269600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:10269400-10269800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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