Variant report

Variant	rs9311329
Chromosome Location	chr3:42952451-42952452
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	chr3:42946486..42948443-chr3:42951858..42953439,2	K562	blood:

Variant related genes	Relation type
ENSG00000182983	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1097111	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1104018	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11129986	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1346413	1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1427799	1.00[CEU][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1427800	1.00[GIH][hapmap]
rs1427801	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2650105	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28494652	0.85[EUR][1000 genomes]
rs530189	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs549709	0.94[YRI][hapmap]
rs630718	0.81[ASW][hapmap];1.00[GIH][hapmap];0.92[AMR][1000 genomes]
rs6789928	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs704889	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs704890	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs704894	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs704896	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs704900	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7619740	0.90[EUR][1000 genomes]
rs7633062	0.90[EUR][1000 genomes]
rs834581	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs834695	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3783	chr3:42926223-42970597	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42948400-42954600	Weak transcription	NH-A	brain
2	chr3:42948600-42954200	Weak transcription	Small Intestine	intestine
3	chr3:42948600-42955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:42948600-42955600	Weak transcription	NHDF-Ad	bronchial
5	chr3:42948800-42954600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:42948800-42954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:42949000-42954400	Weak transcription	Stomach Mucosa	stomach
8	chr3:42949000-42954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:42949200-42955000	Weak transcription	Brain Substantia Nigra	brain
10	chr3:42949400-42953000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr3:42949400-42953000	ZNF genes & repeats	Lung	lung
12	chr3:42949600-42953400	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr3:42949600-42953400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr3:42949600-42953600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:42949600-42954000	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:42949800-42952800	Weak transcription	Fetal Brain Male	brain
17	chr3:42949800-42953600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:42949800-42957000	ZNF genes & repeats	Ovary	ovary
19	chr3:42950000-42953400	Strong transcription	Brain Hippocampus Middle	brain
20	chr3:42950000-42953600	ZNF genes & repeats	Fetal Brain Female	brain
21	chr3:42950000-42954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:42950400-42954400	Weak transcription	Thymus	Thymus
23	chr3:42950800-42953600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr3:42950800-42954400	Weak transcription	Colonic Mucosa	Colon
25	chr3:42951000-42953200	ZNF genes & repeats	Spleen	Spleen
26	chr3:42951200-42953000	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr3:42951200-42953400	Strong transcription	Right Ventricle	heart
28	chr3:42951200-42954600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:42951400-42953400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:42951400-42953400	Strong transcription	Brain Anterior Caudate	brain
31	chr3:42951400-42953400	Strong transcription	Placenta	Placenta
32	chr3:42951400-42953600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr3:42951400-42953600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr3:42951600-42952800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:42951600-42953400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
36	chr3:42951600-42953600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr3:42951600-42954400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:42951800-42953400	Strong transcription	Left Ventricle	heart
39	chr3:42951800-42953600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:42951800-42953600	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr3:42951800-42953600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr3:42951800-42953800	ZNF genes & repeats	Fetal Kidney	kidney
43	chr3:42951800-42954200	Weak transcription	Fetal Thymus	thymus
44	chr3:42951800-42959000	ZNF genes & repeats	Fetal Lung	lung
45	chr3:42952000-42953400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:42952000-42953400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:42952000-42953600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:42952000-42953600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr3:42952000-42953600	Strong transcription	Brain Angular Gyrus	brain
50	chr3:42952000-42953600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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