Variant report

Variant	rs692759
Chromosome Location	chr5:98192545-98192546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98191621..98194487-chr5:98195984..98198996,3	K562	blood:
2	chr5:98191817..98194158-chr5:98195018..98197947,2	MCF-7	breast:
3	chr5:98188742..98191146-chr5:98191246..98193409,2	K562	blood:

Variant related genes	Relation type
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs109843	0.96[CEU][hapmap];0.90[JPT][hapmap]
rs161937	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161949	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2662258	0.87[ASW][hapmap]
rs326488	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs327786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331547	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs331551	0.87[ASW][hapmap]
rs331917	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6860504	0.89[CHD][hapmap]
rs7718898	0.89[CHD][hapmap]

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	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98180200-98213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:98180800-98195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:98182400-98203600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:98182600-98197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:98182600-98205000	Weak transcription	NHEK	skin
6	chr5:98183000-98201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:98185200-98203400	Weak transcription	Pancreas	Pancrea
8	chr5:98185600-98194800	Weak transcription	Fetal Kidney	kidney
9	chr5:98186200-98197200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:98186200-98213400	Weak transcription	Esophagus	oesophagus
11	chr5:98186400-98200800	Weak transcription	Psoas Muscle	Psoas
12	chr5:98186600-98197200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:98189200-98196800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:98189200-98205000	Weak transcription	NHLF	lung
16	chr5:98189400-98196200	Weak transcription	Primary T cells from cord blood	blood
17	chr5:98189400-98196800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:98189400-98197200	Weak transcription	Thymus	Thymus
19	chr5:98189400-98200000	Weak transcription	Left Ventricle	heart
20	chr5:98189400-98205800	Weak transcription	Fetal Heart	heart
21	chr5:98189400-98227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:98189600-98213800	Weak transcription	HSMMtube	muscle
23	chr5:98189600-98215400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:98189600-98241000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:98189800-98192800	Strong transcription	Primary B cells from cord blood	blood
26	chr5:98189800-98193000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:98189800-98196800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:98189800-98241000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:98189800-98241400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:98189800-98241400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:98190000-98192600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:98190000-98192800	Strong transcription	HMEC	breast
34	chr5:98190000-98193000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:98190000-98193000	Strong transcription	GM12878-XiMat	blood
36	chr5:98190000-98198400	Strong transcription	HUVEC	blood vessel
37	chr5:98190000-98203400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:98190000-98240600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:98190000-98240800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:98190000-98240800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:98190200-98192600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr5:98190200-98203600	Weak transcription	Right Ventricle	heart
43	chr5:98190200-98204200	Weak transcription	Brain Substantia Nigra	brain
44	chr5:98190200-98240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:98190200-98240600	Strong transcription	Liver	Liver
46	chr5:98190200-98241000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:98190400-98194200	Strong transcription	NH-A	brain
48	chr5:98190400-98195800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:98190400-98197200	Weak transcription	Fetal Stomach	stomach
50	chr5:98190400-98197400	Weak transcription	Ovary	ovary

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