Variant report

Variant	rs12594105
Chromosome Location	chr15:74876134-74876135
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	chr15:74872905..74875124-chr15:74875646..74878428,3	K562	blood:
2	chr15:74875061..74877011-chr15:74906661..74909529,4	K562	blood:

Variant related genes	Relation type
ENSG00000179335	Chromatin interaction
ENSG00000260919	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12593898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12594316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12594462	1.00[CEU][hapmap]
rs12594486	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12594826	0.90[AFR][1000 genomes]
rs16953854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs16969770	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1799814	1.00[CEU][hapmap]
rs3184088	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3747478	1.00[CEU][hapmap]
rs58386058	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58747223	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59825838	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60494023	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7180069	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs8023274	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs8031284	1.00[CEU][hapmap];0.89[JPT][hapmap]

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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 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	chr15:74839400-74880600	Weak transcription	Hela-S3	cervix
2	chr15:74840600-74890400	Weak transcription	Stomach Mucosa	stomach
3	chr15:74845400-74880200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:74845600-74876200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:74845800-74890400	Weak transcription	A549	lung
6	chr15:74851800-74887800	Strong transcription	GM12878-XiMat	blood
7	chr15:74854800-74888600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:74857600-74888200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr15:74857800-74876600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:74857800-74887600	Strong transcription	Primary T cells from cord blood	blood
11	chr15:74859000-74888600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:74859400-74879200	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr15:74859600-74888000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr15:74860400-74877800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:74860400-74889000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:74860600-74880200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:74860800-74888400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:74861200-74889800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:74861400-74876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:74861800-74879200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:74863200-74876400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:74863200-74880600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:74863200-74880800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:74863400-74880600	Weak transcription	NHLF	lung
25	chr15:74863600-74890800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:74863800-74880200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:74863800-74882200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:74863800-74890400	Weak transcription	Psoas Muscle	Psoas
29	chr15:74864200-74881000	Weak transcription	Fetal Brain Male	brain
30	chr15:74864400-74887000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:74864400-74888400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:74865600-74880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:74865800-74882600	Weak transcription	Small Intestine	intestine
34	chr15:74866200-74880600	Weak transcription	Osteobl	bone
35	chr15:74866800-74876600	Weak transcription	Brain Angular Gyrus	brain
36	chr15:74866800-74880400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:74866800-74880600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:74866800-74880600	Weak transcription	NH-A	brain
39	chr15:74866800-74890800	Weak transcription	Ovary	ovary
40	chr15:74867000-74876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:74867000-74882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:74868000-74877200	Weak transcription	Fetal Lung	lung
43	chr15:74868000-74882200	Weak transcription	Dnd41	blood
44	chr15:74868200-74876200	Weak transcription	Brain Substantia Nigra	brain
45	chr15:74868200-74876400	Weak transcription	Brain Anterior Caudate	brain
46	chr15:74868200-74876400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:74868200-74880200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:74868400-74876400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:74868400-74876600	Strong transcription	Fetal Intestine Large	intestine
50	chr15:74868400-74880200	Weak transcription	Fetal Kidney	kidney

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