Variant report

Variant	rs72784405
Chromosome Location	chr2:10073473-10073474
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17454513	0.80[EUR][1000 genomes]
rs57441833	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72782619	0.80[EUR][1000 genomes]
rs72782623	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72782660	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72782668	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72782669	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72782688	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72782696	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72784416	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1005938	chr2:10043181-10074384	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9993800-10079600	Weak transcription	Gastric	stomach
2	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
3	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10036600-10076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:10037800-10075600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:10038600-10079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:10038600-10081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:10042600-10077000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:10045800-10079600	Weak transcription	Esophagus	oesophagus
11	chr2:10046000-10075200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:10047200-10080000	Weak transcription	Colonic Mucosa	Colon
13	chr2:10049000-10077400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:10049400-10077200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:10049400-10081000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:10049600-10081200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:10052800-10076600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:10053200-10077800	Weak transcription	Liver	Liver
19	chr2:10054800-10079000	Weak transcription	Fetal Kidney	kidney
20	chr2:10055000-10080800	Weak transcription	Pancreas	Pancrea
21	chr2:10055000-10080800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:10055000-10081800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:10055200-10079600	Weak transcription	K562	blood
24	chr2:10055200-10080800	Weak transcription	HMEC	breast
25	chr2:10055800-10075800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:10056800-10074200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:10058800-10076000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:10059000-10080600	Weak transcription	HSMMtube	muscle
29	chr2:10059400-10081200	Weak transcription	GM12878-XiMat	blood
30	chr2:10060400-10075800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:10060600-10074600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:10060600-10075200	Weak transcription	Osteobl	bone
33	chr2:10060600-10080200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:10060800-10077400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:10061000-10079600	Weak transcription	HepG2	liver
36	chr2:10061000-10080800	Weak transcription	Brain Germinal Matrix	brain
37	chr2:10061000-10080800	Weak transcription	NH-A	brain
38	chr2:10061000-10080800	Weak transcription	NHEK	skin
39	chr2:10061400-10077800	Weak transcription	Primary B cells from cord blood	blood
40	chr2:10061600-10077800	Weak transcription	Ovary	ovary
41	chr2:10062000-10073600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:10062600-10073600	Weak transcription	HSMM	muscle
43	chr2:10062600-10080200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:10063000-10080800	Weak transcription	NHLF	lung
45	chr2:10063200-10073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:10064200-10079400	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:10064200-10080200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:10064600-10079200	Weak transcription	Fetal Brain Female	brain
49	chr2:10064800-10073600	Weak transcription	NHDF-Ad	bronchial
50	chr2:10064800-10077000	Weak transcription	Fetal Lung	lung

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