Variant report

Variant	rs16961830
Chromosome Location	chr15:44062842-44062843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44060722..44063228-chr15:44091472..44093558,2	K562	blood:
2	chr15:44061265..44064131-chr15:44066362..44068342,4	K562	blood:
3	chr15:44060010..44065607-chr15:44066577..44070669,7	K562	blood:
4	chr15:44062113..44074982-chr15:44088756..44097846,29	MCF-7	breast:
5	chr15:44052819..44056366-chr15:44062691..44065082,4	K562	blood:
6	chr15:44062639..44065303-chr15:44085346..44088406,3	MCF-7	breast:
7	chr15:44060550..44065898-chr15:44066868..44071265,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221792	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000184716	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10152845	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16948246	1.00[EUR][1000 genomes]
rs16951321	1.00[EUR][1000 genomes]
rs16951483	1.00[EUR][1000 genomes]
rs16951943	1.00[EUR][1000 genomes]
rs16952165	1.00[EUR][1000 genomes]
rs16952651	1.00[EUR][1000 genomes]
rs16964662	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965109	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2447217	1.00[EUR][1000 genomes]
rs2467416	1.00[EUR][1000 genomes]
rs2614830	1.00[EUR][1000 genomes]
rs28517525	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34306395	1.00[EUR][1000 genomes]
rs45561038	1.00[EUR][1000 genomes]
rs58541819	1.00[EUR][1000 genomes]
rs62018896	1.00[EUR][1000 genomes]
rs7171920	1.00[EUR][1000 genomes]
rs9806735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	esv33661	chr15:44016519-44064420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	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	chr15:44041000-44068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44042000-44066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:44042000-44066800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr15:44042000-44067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:44042200-44067000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:44042600-44066600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:44043000-44066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:44043400-44063200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:44043400-44066600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:44043400-44066600	Strong transcription	Fetal Thymus	thymus
11	chr15:44043400-44066800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:44043400-44066800	Strong transcription	Placenta	Placenta
13	chr15:44043400-44067000	Strong transcription	Osteobl	bone
14	chr15:44043400-44067200	Strong transcription	HSMM	muscle
15	chr15:44043600-44063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:44043600-44063800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:44043600-44066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:44043600-44066800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr15:44043800-44066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:44044000-44063800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:44044000-44063800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr15:44044000-44066600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:44044000-44067000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:44044400-44065600	Strong transcription	HUVEC	blood vessel
25	chr15:44044400-44066600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:44044400-44068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:44044600-44065600	Strong transcription	Brain Anterior Caudate	brain
28	chr15:44044600-44066400	Strong transcription	Adipose Nuclei	Adipose
29	chr15:44044600-44067000	Strong transcription	Fetal Intestine Large	intestine
30	chr15:44044800-44063800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:44044800-44065600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:44044800-44065600	Strong transcription	Dnd41	blood
33	chr15:44044800-44066600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:44045000-44065800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr15:44045000-44067000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:44045000-44067200	Strong transcription	Fetal Stomach	stomach
37	chr15:44045200-44066400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:44045200-44066600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:44045200-44066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:44045200-44067200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:44045600-44065200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:44045600-44065800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:44045600-44066600	Strong transcription	Liver	Liver
44	chr15:44045800-44065800	Strong transcription	Left Ventricle	heart
45	chr15:44045800-44065800	Strong transcription	Thymus	Thymus
46	chr15:44045800-44066400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:44046000-44064400	Strong transcription	Colonic Mucosa	Colon
48	chr15:44046000-44065400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:44046000-44068000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:44046800-44066000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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