Variant report

Variant	rs9310162
Chromosome Location	chr3:69540365-69540366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69534423..69536468-chr3:69538734..69540832,3	K562	blood:
2	chr3:69534423..69536468-chr3:69538828..69540832,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13323667	1.00[EUR][1000 genomes]
rs17005899	1.00[EUR][1000 genomes]
rs58587482	1.00[EUR][1000 genomes]
rs60962399	1.00[EUR][1000 genomes]
rs61048195	1.00[EUR][1000 genomes]
rs7355895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810578	1.00[EUR][1000 genomes]
rs9836039	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837414	1.00[EUR][1000 genomes]
rs9848468	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9862455	1.00[EUR][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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69513400-69549200	Weak transcription	HMEC	breast
2	chr3:69522000-69543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:69524200-69543600	Weak transcription	NHEK	skin
4	chr3:69534800-69548200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:69535000-69541000	Weak transcription	Left Ventricle	heart
6	chr3:69535000-69541200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:69535200-69540400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:69535200-69549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:69535800-69541000	Weak transcription	Right Ventricle	heart
10	chr3:69536400-69541200	Weak transcription	Fetal Lung	lung
11	chr3:69536400-69541200	Weak transcription	Ovary	ovary
12	chr3:69536800-69541200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:69539000-69540400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:69539000-69549000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:69539400-69541600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:69539400-69541600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:69539600-69540400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:69539600-69540400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:69539600-69540400	Enhancers	Brain Anterior Caudate	brain
20	chr3:69539600-69540800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:69539600-69541000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:69539600-69541200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:69539600-69541400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:69539600-69541400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:69539600-69541400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:69539800-69541000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:69539800-69541400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:69540000-69541000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:69540000-69541000	Weak transcription	Right Atrium	heart
30	chr3:69540000-69541200	Weak transcription	Spleen	Spleen
31	chr3:69540000-69541400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:69540200-69540600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:69540200-69541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:69540200-69541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:69540200-69541200	Weak transcription	Brain Substantia Nigra	brain
36	chr3:69540200-69541400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:69540200-69541600	Enhancers	Fetal Heart	heart
38	chr3:69540200-69549200	Weak transcription	Fetal Brain Male	brain

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