Variant report

Variant	rs9850038
Chromosome Location	chr3:67421997-67421998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12486655	0.86[AFR][1000 genomes]
rs12634424	0.85[AFR][1000 genomes]
rs12637020	0.85[AFR][1000 genomes]
rs1490269	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2363715	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35288630	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3952322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873642	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs881100	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs902320	0.81[AFR][1000 genomes]
rs9811979	0.83[AFR][1000 genomes]
rs9833822	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:67413200-67441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:67414200-67438800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:67414400-67426200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:67417200-67432600	Weak transcription	A549	lung
7	chr3:67417400-67435800	Weak transcription	Primary B cells from cord blood	blood
8	chr3:67418200-67423800	Weak transcription	Fetal Kidney	kidney
9	chr3:67418400-67432600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:67418600-67434600	Weak transcription	Osteobl	bone
11	chr3:67418600-67442600	Weak transcription	Dnd41	blood
12	chr3:67419400-67426000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:67420000-67424000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:67420000-67432600	Weak transcription	Psoas Muscle	Psoas
15	chr3:67420200-67423000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:67420200-67424600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:67420200-67426200	Weak transcription	Aorta	Aorta
18	chr3:67420200-67426200	Weak transcription	Fetal Intestine Large	intestine
19	chr3:67420200-67426200	Weak transcription	Left Ventricle	heart
20	chr3:67420200-67426400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:67420200-67427800	Weak transcription	Lung	lung
22	chr3:67420200-67429400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:67420200-67430400	Weak transcription	Pancreas	Pancrea
24	chr3:67420200-67432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:67420200-67432600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:67420200-67432800	Weak transcription	Right Ventricle	heart
27	chr3:67420200-67437000	Weak transcription	Spleen	Spleen
28	chr3:67420200-67441600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:67420200-67441800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:67420200-67449600	Weak transcription	HSMM	muscle
31	chr3:67420200-67452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
33	chr3:67420400-67422000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:67420400-67423600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:67420400-67426000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:67420400-67426000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:67420400-67426200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:67420400-67426200	Weak transcription	Ovary	ovary
39	chr3:67420400-67428800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:67420600-67422600	Weak transcription	Liver	Liver
41	chr3:67421000-67434600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:67421000-67434800	Weak transcription	Adipose Nuclei	Adipose
43	chr3:67421200-67433200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:67421400-67423400	Strong transcription	Primary T cells from cord blood	blood
45	chr3:67421400-67426200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:67421400-67426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:67421400-67426400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:67421600-67425400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:67421800-67424200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:67421800-67441800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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