Variant report

Variant	rs72918943
Chromosome Location	chr3:67464148-67464149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:67457865..67460434-chr3:67463200..67466004,2	K562	blood:

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

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

rs_ID	r²[population]
rs60828897	1.00[AMR][1000 genomes]
rs72918957	1.00[AMR][1000 genomes]
rs72918980	1.00[AMR][1000 genomes]
rs72918987	1.00[AMR][1000 genomes]
rs72918992	1.00[AMR][1000 genomes]
rs72923138	1.00[AMR][1000 genomes]
rs72923169	1.00[AMR][1000 genomes]
rs72923174	1.00[AMR][1000 genomes]
rs73834518	1.00[AMR][1000 genomes]
rs7620069	1.00[AMR][1000 genomes]
rs9830987	1.00[AMR][1000 genomes]
rs9853254	1.00[AMR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
3	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
5	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:67425000-67474200	Weak transcription	Gastric	stomach
7	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:67433600-67465800	Weak transcription	NHLF	lung
9	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:67435600-67509800	Weak transcription	Ovary	ovary
12	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
13	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:67442800-67465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:67442800-67467200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:67442800-67478000	Weak transcription	Lung	lung
18	chr3:67449400-67486600	Weak transcription	Fetal Stomach	stomach
19	chr3:67450600-67467200	Weak transcription	Osteobl	bone
20	chr3:67450600-67470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr3:67450600-67470400	Weak transcription	A549	lung
22	chr3:67451200-67466200	Weak transcription	NHDF-Ad	bronchial
23	chr3:67451200-67466600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:67451200-67470400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:67451200-67487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:67451400-67464600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:67451400-67466200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:67451400-67470200	Weak transcription	Dnd41	blood
29	chr3:67453600-67470400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:67454000-67469800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:67454600-67478000	Weak transcription	Fetal Intestine Small	intestine
32	chr3:67455200-67470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:67455200-67470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:67455800-67466200	Weak transcription	Left Ventricle	heart
35	chr3:67458600-67470600	Weak transcription	HSMM	muscle
36	chr3:67459000-67465200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:67459000-67465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:67459000-67468000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:67459200-67471000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:67459600-67470200	Weak transcription	Liver	Liver
41	chr3:67459800-67468800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:67459800-67470200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:67460000-67468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:67460000-67470200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:67460000-67470400	Weak transcription	Fetal Intestine Large	intestine
46	chr3:67462600-67464200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:67462600-67464200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:67462800-67465400	Weak transcription	Fetal Heart	heart
49	chr3:67463000-67487400	Weak transcription	Pancreas	Pancrea
50	chr3:67463200-67466400	Weak transcription	Right Atrium	heart

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