Variant report

Variant	rs72774717
Chromosome Location	chr10:4012469-4012470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10508272	0.87[EUR][1000 genomes]
rs10904150	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252209	0.83[EUR][1000 genomes]
rs11252230	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11252235	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11252236	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11252237	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11814797	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12217249	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12217258	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12217980	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12219083	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1409209	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1570947	0.85[EUR][1000 genomes]
rs17131877	0.87[EUR][1000 genomes]
rs17136237	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031575	0.85[EUR][1000 genomes]
rs2397398	0.85[EUR][1000 genomes]
rs2645215	0.82[EUR][1000 genomes]
rs56142939	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56154000	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56250932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57872033	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61519757	0.92[EUR][1000 genomes]
rs67401362	0.87[EUR][1000 genomes]
rs7092266	0.82[EUR][1000 genomes]
rs7098287	0.85[EUR][1000 genomes]
rs72774706	0.83[EUR][1000 genomes]
rs72774723	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72774728	0.92[EUR][1000 genomes]
rs7900453	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7903823	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943017	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv894784	chr10:3985194-4051081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5609	chr10:4002849-4040114	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4002200-4022000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:4010800-4013200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:4010800-4015000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr10:4011000-4014200	Enhancers	Primary T cells from cord blood	blood
5	chr10:4011000-4014600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:4011000-4014800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr10:4011200-4016000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr10:4011200-4016200	Enhancers	Dnd41	blood
9	chr10:4011200-4019200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:4011400-4012800	Enhancers	Fetal Intestine Large	intestine
11	chr10:4011600-4013000	Enhancers	Fetal Intestine Small	intestine
12	chr10:4011600-4013200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:4011600-4013200	Enhancers	Placenta	Placenta
14	chr10:4011600-4014800	Weak transcription	HUVEC	blood vessel
15	chr10:4011600-4015600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:4011800-4012600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr10:4011800-4013000	Enhancers	Stomach Mucosa	stomach
18	chr10:4011800-4013200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:4012000-4012600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:4012000-4012600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:4012000-4012800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:4012000-4013000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:4012000-4013200	Enhancers	NHEK	skin
24	chr10:4012200-4012600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:4012200-4012600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:4012200-4012800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:4012200-4012800	Enhancers	Small Intestine	intestine
28	chr10:4012200-4014200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:4012200-4014400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr10:4012400-4012600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr10:4012400-4012600	Enhancers	Adipose Nuclei	Adipose
32	chr10:4012400-4012600	Active TSS	Duodenum Mucosa	Duodenum
33	chr10:4012400-4012600	Enhancers	Esophagus	oesophagus
34	chr10:4012400-4012600	Enhancers	Fetal Muscle Leg	muscle
35	chr10:4012400-4012600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr10:4012400-4012800	Enhancers	Fetal Thymus	thymus
37	chr10:4012400-4013000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr10:4012400-4013400	Enhancers	HMEC	breast
39	chr10:4012400-4014800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:4012400-4015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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