Variant report

Variant	rs11927789
Chromosome Location	chr3:47742112-47742113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2291903	0.89[AMR][1000 genomes]
rs73083150	0.91[AMR][1000 genomes];0.95[ASN][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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv590232	chr3:47681881-47765547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
4	nsv876759	chr3:47725315-47830741	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 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	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
3	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:47700200-47757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:47701200-47765000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:47701200-47765600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:47701600-47762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:47701600-47800400	Strong transcription	Dnd41	blood
10	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:47702200-47790400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:47704000-47788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:47705600-47742800	Weak transcription	Esophagus	oesophagus
14	chr3:47707200-47780800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:47707200-47781400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:47707600-47762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:47710600-47756600	Strong transcription	Placenta	Placenta
18	chr3:47711000-47759400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:47711400-47757200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:47714600-47742200	Weak transcription	Psoas Muscle	Psoas
21	chr3:47716000-47745800	Weak transcription	Fetal Heart	heart
22	chr3:47716000-47747400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:47719000-47752000	Weak transcription	Colonic Mucosa	Colon
24	chr3:47720600-47742200	Weak transcription	Small Intestine	intestine
25	chr3:47721600-47742800	Weak transcription	Right Ventricle	heart
26	chr3:47722000-47743000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:47722000-47747200	Weak transcription	Fetal Brain Male	brain
28	chr3:47723400-47766200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:47727600-47745600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:47727600-47747400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:47727600-47819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:47728600-47742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:47728800-47762800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr3:47730600-47742200	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:47731000-47746200	Weak transcription	Brain Substantia Nigra	brain
36	chr3:47731600-47745800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:47731800-47743600	Weak transcription	Ovary	ovary
38	chr3:47732400-47742800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:47733200-47744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:47733600-47743000	Strong transcription	K562	blood
41	chr3:47733600-47743200	Strong transcription	HSMM	muscle
42	chr3:47734200-47742600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:47734200-47742600	Weak transcription	Brain Angular Gyrus	brain
44	chr3:47734800-47742200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:47735000-47742800	Weak transcription	Brain Anterior Caudate	brain
46	chr3:47735000-47745800	Weak transcription	NHLF	lung
47	chr3:47735400-47742600	Weak transcription	HMEC	breast
48	chr3:47735800-47742600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:47736600-47745600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:47736800-47742200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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