Variant report

Variant	rs17027806
Chromosome Location	chr4:99509229-99509230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10033777	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489125	1.00[ASW][hapmap];0.83[LWK][hapmap];0.81[AMR][1000 genomes]
rs11938326	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528548	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17027639	1.00[JPT][hapmap]
rs17027799	0.81[AMR][1000 genomes]
rs4699355	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4699657	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699658	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323627	0.81[AMR][1000 genomes]
rs62323632	0.81[AMR][1000 genomes]
rs62323635	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323637	0.94[ASN][1000 genomes]
rs62323638	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62323639	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323640	0.92[EUR][1000 genomes]
rs7670467	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7670572	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846010	0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs950152	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997807	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:99505000-99510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:99505200-99510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:99506400-99509600	Enhancers	Fetal Brain Male	brain
5	chr4:99506800-99509600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:99507000-99513600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:99507200-99509400	Weak transcription	NHDF-Ad	bronchial
8	chr4:99507400-99510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:99507600-99510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:99507800-99509400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr4:99508000-99509400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:99508000-99509600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr4:99508200-99509400	Active TSS	Brain Angular Gyrus	brain
14	chr4:99508200-99510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:99508200-99513600	Weak transcription	NHEK	skin
16	chr4:99508400-99509400	Active TSS	Brain Substantia Nigra	brain
17	chr4:99508400-99509600	Active TSS	Brain Hippocampus Middle	brain
18	chr4:99508400-99510200	Weak transcription	Spleen	Spleen
19	chr4:99508400-99510400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:99508400-99510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:99508400-99511200	Weak transcription	Fetal Lung	lung
22	chr4:99508600-99509400	Active TSS	Brain Cingulate Gyrus	brain
23	chr4:99508600-99509400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:99508600-99509600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr4:99508600-99509600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr4:99508600-99509600	Active TSS	HMEC	breast
27	chr4:99508600-99512000	Weak transcription	Ovary	ovary
28	chr4:99508600-99512800	Weak transcription	Fetal Heart	heart
29	chr4:99508800-99509400	Active TSS	Fetal Brain Female	brain
30	chr4:99508800-99509600	Active TSS	Brain Anterior Caudate	brain
31	chr4:99508800-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:99509000-99509400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:99509000-99509400	Active TSS	HSMM	muscle
34	chr4:99509000-99509400	Active TSS	HSMMtube	muscle
35	chr4:99509000-99509600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr4:99509000-99509600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:99509000-99509600	Active TSS	NH-A	brain
38	chr4:99509200-99509400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:99509200-99509400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:99509200-99509600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:99509200-99510000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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