Variant report

Variant	rs12595385
Chromosome Location	chr15:99712877-99712878
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99711508..99714096-chr15:99788653..99791072,2	MCF-7	breast:
2	chr15:99710991..99713065-chr15:99713297..99715129,2	K562	blood:

Variant related genes	Relation type
ENSG00000103852	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12324825	0.86[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12591477	0.86[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12594336	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs1377267	0.89[CEU][hapmap]
rs1530920	0.96[CEU][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1810091	0.81[CHB][hapmap]
rs28612155	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28819101	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3803472	0.96[CEU][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4500700	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7170336	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8023490	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8026991	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8032154	0.92[CEU][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8038002	0.96[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8038392	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8038732	0.82[AMR][1000 genomes]
rs9672800	0.85[CEU][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99665000-99714200	Weak transcription	NHEK	skin
2	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
3	chr15:99684800-99721600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:99685000-99720200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:99692000-99717000	Weak transcription	HSMM	muscle
6	chr15:99694800-99721200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:99694800-99732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:99694800-99732600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:99695200-99721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:99695200-99721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:99695200-99732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:99697000-99716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:99697000-99756400	Weak transcription	Stomach Mucosa	stomach
14	chr15:99699400-99731400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:99700200-99731200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:99700400-99730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:99702200-99715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:99703400-99728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:99705000-99732400	Weak transcription	Fetal Kidney	kidney
20	chr15:99705600-99715400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:99706200-99715800	Genic enhancers	Fetal Muscle Leg	muscle
22	chr15:99707000-99715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:99707800-99717200	Weak transcription	HUVEC	blood vessel
24	chr15:99708600-99715000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr15:99708600-99715800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:99709000-99715600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:99709400-99715200	Weak transcription	Fetal Thymus	thymus
28	chr15:99709400-99715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:99709400-99732600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:99709600-99713600	Strong transcription	Esophagus	oesophagus
31	chr15:99709600-99713600	Strong transcription	A549	lung
32	chr15:99709600-99715800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:99709600-99731400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:99709600-99732600	Weak transcription	GM12878-XiMat	blood
35	chr15:99709800-99732600	Weak transcription	Spleen	Spleen
36	chr15:99710000-99713200	Weak transcription	Aorta	Aorta
37	chr15:99710000-99714400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:99710000-99719600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:99710000-99721000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:99710200-99724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:99710400-99713000	Weak transcription	HSMMtube	muscle
42	chr15:99710400-99714200	Strong transcription	Lung	lung
43	chr15:99710400-99714800	Weak transcription	Placenta	Placenta
44	chr15:99710400-99715200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:99710400-99732400	Weak transcription	Fetal Brain Female	brain
46	chr15:99710800-99715000	Weak transcription	Brain Substantia Nigra	brain
47	chr15:99710800-99715400	Strong transcription	Dnd41	blood
48	chr15:99711000-99713000	Weak transcription	NH-A	brain
49	chr15:99711000-99714400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:99711000-99714400	Strong transcription	Ovary	ovary

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