Variant report

Variant	rs12888536
Chromosome Location	chr14:31577565-31577566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31576791..31579720-chr14:31584200..31586773,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10130310	0.85[EUR][1000 genomes]
rs10136398	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12436156	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12879653	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28417029	0.80[EUR][1000 genomes]
rs33983486	0.97[EUR][1000 genomes]
rs34588788	0.87[EUR][1000 genomes]
rs61978767	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
5	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31565600-31598000	Strong transcription	Liver	Liver
7	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:31565800-31578800	Strong transcription	HUVEC	blood vessel
9	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:31566000-31586600	Strong transcription	Fetal Muscle Leg	muscle
11	chr14:31566000-31591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:31566200-31578800	Strong transcription	Fetal Thymus	thymus
16	chr14:31566200-31579000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr14:31566200-31586600	Strong transcription	Primary T cells from cord blood	blood
18	chr14:31566200-31590600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:31566200-31591600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
25	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:31566400-31586600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:31566400-31592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:31566400-31592600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr14:31566600-31579800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:31566600-31591000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:31566600-31592000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:31566600-31592400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:31566600-31592400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:31566600-31592800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:31566600-31597600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr14:31566800-31578200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:31567000-31578400	Strong transcription	A549	lung
40	chr14:31567000-31579000	Strong transcription	NHDF-Ad	bronchial
41	chr14:31567000-31591400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:31567000-31592600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:31567000-31592600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:31567000-31597000	Strong transcription	HepG2	liver
45	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr14:31567000-31651200	Strong transcription	Dnd41	blood
48	chr14:31567200-31578600	Strong transcription	HMEC	breast
49	chr14:31567200-31578800	Strong transcription	Thymus	Thymus
50	chr14:31567200-31579400	Strong transcription	GM12878-XiMat	blood

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