Variant report

Variant	rs9850589
Chromosome Location	chr3:120421729-120421730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120421115..120423893-chr3:120461818..120463428,2	K562	blood:

Variant related genes	Relation type
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16831690	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17240621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378561	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424413	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4676823	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676824	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537922	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61795615	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796373	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61796376	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624496	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6785511	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612975	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836215	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs883537	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120397800-120421800	Weak transcription	Aorta	Aorta
2	chr3:120397800-120424800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:120398200-120423200	Weak transcription	Psoas Muscle	Psoas
4	chr3:120398200-120427000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:120398200-120427800	Weak transcription	Placenta	Placenta
6	chr3:120398200-120430200	Weak transcription	NHEK	skin
7	chr3:120398200-120438000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:120401000-120424800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:120402400-120423600	Weak transcription	Lung	lung
11	chr3:120402800-120421800	Weak transcription	Fetal Kidney	kidney
12	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:120403600-120423800	Weak transcription	Spleen	Spleen
14	chr3:120404000-120423600	Weak transcription	Pancreas	Pancrea
15	chr3:120404800-120421800	Weak transcription	HSMM	muscle
16	chr3:120405600-120436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:120406000-120421800	Weak transcription	Dnd41	blood
18	chr3:120406400-120436600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:120406600-120421800	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:120407000-120421800	Weak transcription	Thymus	Thymus
21	chr3:120407200-120422000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:120408400-120421800	Weak transcription	Fetal Thymus	thymus
23	chr3:120408400-120429400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:120408600-120427400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:120411000-120422800	Weak transcription	Fetal Lung	lung
26	chr3:120411000-120436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:120412600-120421800	Weak transcription	Adipose Nuclei	Adipose
28	chr3:120412600-120424400	Weak transcription	HMEC	breast
29	chr3:120412600-120425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:120412800-120422600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:120412800-120425200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:120412800-120425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:120412800-120426600	Weak transcription	Brain Angular Gyrus	brain
34	chr3:120412800-120435600	Weak transcription	NH-A	brain
35	chr3:120412800-120438000	Weak transcription	Fetal Intestine Small	intestine
36	chr3:120413200-120421800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:120413200-120421800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:120413800-120423400	Weak transcription	Colonic Mucosa	Colon
39	chr3:120414400-120425000	Weak transcription	Brain Germinal Matrix	brain
40	chr3:120415000-120438000	Weak transcription	HepG2	liver
41	chr3:120415400-120425800	Weak transcription	A549	lung
42	chr3:120416400-120423200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:120416400-120436800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:120416400-120437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:120416400-120437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:120416600-120421800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:120416600-120421800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:120416600-120421800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:120416600-120421800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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