Variant report

Variant	rs12944298
Chromosome Location	chr17:37720273-37720274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12940881	1.00[EUR][1000 genomes]
rs12943456	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946275	0.83[AMR][1000 genomes]
rs12950784	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12953178	1.00[EUR][1000 genomes]
rs2132141	1.00[EUR][1000 genomes]
rs34079604	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34207136	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34458385	0.88[AFR][1000 genomes]
rs34518049	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34745517	0.82[AFR][1000 genomes]
rs34904106	1.00[EUR][1000 genomes]
rs34910003	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35270682	0.90[AFR][1000 genomes]
rs35366897	1.00[YRI][hapmap]
rs35442489	0.90[AFR][1000 genomes]
rs35499078	1.00[YRI][hapmap]
rs35550184	1.00[EUR][1000 genomes]
rs35598597	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35701477	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35821333	1.00[EUR][1000 genomes]
rs35829705	0.95[YRI][hapmap]
rs35896550	1.00[EUR][1000 genomes]
rs35929798	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35986399	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs36025330	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs36172452	0.86[AFR][1000 genomes]
rs4252626	1.00[EUR][1000 genomes]
rs4252646	1.00[EUR][1000 genomes]
rs4252647	1.00[EUR][1000 genomes]
rs4252652	1.00[EUR][1000 genomes]
rs4252660	1.00[EUR][1000 genomes]
rs4988981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059040	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58452873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114874	0.83[AMR][1000 genomes]
rs6503512	1.00[YRI][hapmap]
rs71369760	1.00[EUR][1000 genomes]
rs71369763	1.00[EUR][1000 genomes]
rs71369765	1.00[EUR][1000 genomes]
rs71369773	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369774	0.89[AFR][1000 genomes]
rs71369775	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71369777	0.83[AMR][1000 genomes]
rs7212530	1.00[EUR][1000 genomes]
rs7218668	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7219611	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219683	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224847	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7226215	0.80[AFR][1000 genomes]
rs7226222	1.00[YRI][hapmap]
rs8069194	1.00[YRI][hapmap]
rs8073144	1.00[YRI][hapmap]
rs8076843	0.95[YRI][hapmap]
rs8077259	1.00[YRI][hapmap]
rs8077629	0.91[YRI][hapmap]
rs8081144	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs9747666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37687800-37729800	Weak transcription	Small Intestine	intestine
2	chr17:37695400-37727400	Weak transcription	K562	blood
3	chr17:37695800-37723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:37700200-37725800	Strong transcription	Placenta	Placenta
5	chr17:37701000-37728800	Strong transcription	Liver	Liver
6	chr17:37701200-37727600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:37704800-37720400	Weak transcription	Hela-S3	cervix
8	chr17:37705200-37727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:37705200-37727600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:37706800-37727200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:37707200-37725400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:37707600-37724400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:37707600-37724600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr17:37708000-37722800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:37708800-37729400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:37710200-37727000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:37710400-37726800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:37710400-37729400	Weak transcription	HMEC	breast
19	chr17:37710400-37729600	Weak transcription	NHEK	skin
20	chr17:37710800-37730400	Weak transcription	Stomach Mucosa	stomach
21	chr17:37713000-37729200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:37713200-37720400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:37713200-37722200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:37713200-37723000	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:37713200-37729600	Weak transcription	NHDF-Ad	bronchial
26	chr17:37713400-37722000	Weak transcription	GM12878-XiMat	blood
27	chr17:37713400-37722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:37713600-37720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:37713600-37725400	Weak transcription	Colonic Mucosa	Colon
30	chr17:37713800-37722000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:37714000-37722000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:37714000-37729600	Weak transcription	NHLF	lung
33	chr17:37714200-37723200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr17:37714400-37723200	Weak transcription	A549	lung
35	chr17:37714600-37720400	Weak transcription	Right Ventricle	heart
36	chr17:37714600-37721000	Weak transcription	Brain Substantia Nigra	brain
37	chr17:37714600-37721200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:37714600-37722400	Weak transcription	Aorta	Aorta
39	chr17:37714600-37722400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr17:37714600-37723000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:37714600-37727400	Weak transcription	Dnd41	blood
42	chr17:37714600-37728600	Weak transcription	Brain Angular Gyrus	brain
43	chr17:37714600-37729600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr17:37714800-37722400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:37715600-37726800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:37716200-37727800	Strong transcription	Primary T cells from cord blood	blood
47	chr17:37716400-37720400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr17:37716400-37722800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:37716400-37723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:37717600-37720400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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