Variant report

Variant	rs12324395
Chromosome Location	chr15:73028375-73028376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11072381	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs11072382	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs11634630	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12902880	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12903320	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs12914333	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs1991288	0.89[AFR][1000 genomes]
rs4238454	0.92[YRI][hapmap];1.00[AFR][1000 genomes]
rs4274404	0.98[AFR][1000 genomes]
rs4776612	0.81[YRI][hapmap]
rs7182527	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs7182789	1.00[YRI][hapmap]
rs8038907	0.93[AFR][1000 genomes]
rs8039792	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9806635	0.98[AFR][1000 genomes]
rs9806649	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs9806685	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer 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	25 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	chr15:72993000-73028800	Weak transcription	NHEK	skin
2	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
3	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
5	chr15:73002200-73028800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:73002400-73028800	Weak transcription	Psoas Muscle	Psoas
7	chr15:73003000-73028800	Weak transcription	Dnd41	blood
8	chr15:73003000-73031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:73003200-73029000	Weak transcription	Esophagus	oesophagus
10	chr15:73003400-73029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:73005000-73028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:73005000-73031800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:73018800-73032000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:73018800-73033400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:73019000-73032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:73019400-73031600	Strong transcription	Primary T cells from cord blood	blood
18	chr15:73020600-73034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:73021000-73044200	Weak transcription	HUVEC	blood vessel
20	chr15:73021200-73034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:73021400-73033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:73021400-73044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:73021800-73032200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:73021800-73033000	Strong transcription	Primary B cells from cord blood	blood
25	chr15:73022000-73033400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr15:73022800-73032800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:73022800-73032800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr15:73022800-73033600	Strong transcription	Liver	Liver
29	chr15:73022800-73034400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:73023000-73033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:73023200-73033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:73023400-73032600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:73023600-73031200	Strong transcription	Fetal Brain Female	brain
34	chr15:73023600-73031800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:73023600-73032200	Strong transcription	Lung	lung
36	chr15:73023600-73033200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:73023800-73031000	Strong transcription	Brain Anterior Caudate	brain
38	chr15:73023800-73031400	Strong transcription	Ovary	ovary
39	chr15:73024400-73028800	Weak transcription	Placenta	Placenta
40	chr15:73024400-73029000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:73024400-73029200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:73024400-73032200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:73024400-73046800	Weak transcription	Fetal Kidney	kidney
44	chr15:73024800-73031600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr15:73024800-73044000	Weak transcription	HMEC	breast
46	chr15:73025400-73030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:73025400-73031000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr15:73025800-73034400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:73026000-73034000	Strong transcription	Fetal Lung	lung
50	chr15:73026000-73034600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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