Variant report

Variant	rs2444781
Chromosome Location	chr5:43159558-43159559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10072230	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748554	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617756	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622767	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17242918	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2444780	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444782	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28778331	0.83[AMR][1000 genomes]
rs496570	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497982	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506244	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514567	1.00[YRI][hapmap]
rs524985	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546194	0.84[AFR][1000 genomes]
rs60289145	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751050	1.00[ASN][1000 genomes]
rs7719222	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs782980	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
3	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
4	chr5:43127600-43178000	Strong transcription	Dnd41	blood
5	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
7	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:43131000-43159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:43133000-43161400	Weak transcription	Esophagus	oesophagus
10	chr5:43133200-43161400	Weak transcription	Fetal Brain Male	brain
11	chr5:43137200-43163400	Weak transcription	Fetal Kidney	kidney
12	chr5:43137800-43161000	Weak transcription	HSMM	muscle
13	chr5:43141800-43161400	Weak transcription	HUVEC	blood vessel
14	chr5:43142200-43161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:43143000-43161400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:43143800-43161400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:43143800-43161400	Weak transcription	NHEK	skin
19	chr5:43144600-43159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:43145200-43161400	Weak transcription	NH-A	brain
21	chr5:43145400-43161400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:43146400-43161200	Weak transcription	Liver	Liver
23	chr5:43146600-43161400	Weak transcription	HMEC	breast
24	chr5:43146600-43162200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:43147800-43159600	Strong transcription	Primary T cells from cord blood	blood
26	chr5:43148200-43162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:43148400-43160000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:43148400-43169800	Strong transcription	Hela-S3	cervix
29	chr5:43149800-43161000	Strong transcription	Fetal Thymus	thymus
30	chr5:43150200-43159600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:43150200-43161200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:43150600-43167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:43151000-43161400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:43151200-43160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:43151400-43161000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:43151800-43161000	Weak transcription	Brain Germinal Matrix	brain
37	chr5:43152400-43160000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:43152800-43161000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:43152800-43161400	Weak transcription	Spleen	Spleen
40	chr5:43153000-43160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:43153000-43160800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:43153000-43161400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:43153000-43162400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:43153200-43160600	Weak transcription	Placenta	Placenta
45	chr5:43153200-43161000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:43153200-43161000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:43153400-43161000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:43153400-43161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:43153400-43161400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:43153400-43161400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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