Variant report

Variant	rs4238105
Chromosome Location	chr12:50849043-50849044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50838040..50839651-chr12:50846886..50849566,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10467057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10467107	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10783361	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876033	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876035	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169423	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs4293181	1.00[CEU][hapmap]
rs4321029	0.82[EUR][1000 genomes]
rs4343103	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4424740	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768936	1.00[JPT][hapmap]
rs4768976	1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57594106	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58723865	0.91[EUR][1000 genomes]
rs7138887	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs7304630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305121	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73305168	0.95[EUR][1000 genomes]
rs7489251	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7959284	0.97[EUR][1000 genomes]
rs7964643	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs7967393	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973910	0.82[EUR][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	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	esv1820779	chr12:50835060-50858820	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
3	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
11	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:50821600-50850600	Strong transcription	Dnd41	blood
13	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:50821600-50851200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:50821600-50851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:50821600-50851800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:50821800-50850600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:50825800-50873000	Strong transcription	Liver	Liver
24	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
25	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:50828800-50857400	Weak transcription	Gastric	stomach
27	chr12:50830000-50856800	Weak transcription	Spleen	Spleen
28	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:50833000-50856800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:50834200-50856400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:50834400-50852400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:50835200-50853000	Weak transcription	Right Ventricle	heart
35	chr12:50836000-50856600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:50836000-50857800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:50836400-50856600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:50836400-50856800	Weak transcription	Fetal Kidney	kidney
39	chr12:50836400-50866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:50836800-50867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:50837000-50854600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:50837200-50856800	Weak transcription	Brain Angular Gyrus	brain
44	chr12:50837200-50862600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:50839000-50852800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:50839000-50869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:50839200-50854000	Weak transcription	Fetal Lung	lung
48	chr12:50839200-50856400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:50839200-50856800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:50839200-50857000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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