Variant report

Variant	rs12324384
Chromosome Location	chr15:52343240-52343241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52309859..52315433-chr15:52338782..52357079,28	MCF-7	breast:
2	chr15:52342647..52344200-chr15:52358974..52361107,2	MCF-7	breast:
3	chr15:52316178..52317685-chr15:52342819..52344591,2	MCF-7	breast:
4	chr15:52310214..52311955-chr15:52342093..52343874,2	MCF-7	breast:
5	chr15:52342579..52344959-chr15:52354184..52356320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10152141	0.83[EUR][1000 genomes]
rs10518675	0.83[EUR][1000 genomes]
rs12324807	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379854	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16964720	0.83[EUR][1000 genomes]
rs2001741	0.83[EUR][1000 genomes]
rs2306793	0.83[EUR][1000 genomes]
rs2899484	0.83[EUR][1000 genomes]
rs4774606	0.83[EUR][1000 genomes]
rs4775995	0.83[EUR][1000 genomes]
rs4775996	0.83[EUR][1000 genomes]
rs55705935	0.83[EUR][1000 genomes]
rs55873482	0.83[EUR][1000 genomes]
rs56307802	0.83[EUR][1000 genomes]
rs7177328	0.83[EUR][1000 genomes]
rs7359204	0.83[EUR][1000 genomes]
rs74013636	0.83[EUR][1000 genomes]
rs74013638	0.83[EUR][1000 genomes]
rs74013640	0.83[EUR][1000 genomes]
rs74013641	0.83[EUR][1000 genomes]
rs74013642	0.83[EUR][1000 genomes]
rs74013644	0.83[EUR][1000 genomes]
rs74013645	0.83[EUR][1000 genomes]
rs74013646	0.83[EUR][1000 genomes]
rs74013647	0.83[EUR][1000 genomes]
rs74013648	0.83[EUR][1000 genomes]
rs74013654	0.83[EUR][1000 genomes]
rs74013656	0.83[EUR][1000 genomes]
rs74013661	0.83[EUR][1000 genomes]
rs7497554	0.83[EUR][1000 genomes]
rs8027276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033365	0.83[EUR][1000 genomes]
rs8036048	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
3	chr15:52332400-52348200	Weak transcription	Colonic Mucosa	Colon
4	chr15:52332600-52349000	Weak transcription	Esophagus	oesophagus
5	chr15:52332600-52349400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:52332600-52350800	Weak transcription	Aorta	Aorta
7	chr15:52332600-52361800	Weak transcription	Gastric	stomach
8	chr15:52332800-52344400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:52333000-52344200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:52333000-52344400	Weak transcription	Left Ventricle	heart
11	chr15:52333000-52345400	Weak transcription	Lung	lung
12	chr15:52333000-52348200	Weak transcription	HSMMtube	muscle
13	chr15:52333000-52350800	Weak transcription	Right Ventricle	heart
14	chr15:52333000-52351000	Weak transcription	Spleen	Spleen
15	chr15:52333200-52348600	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:52334000-52361400	Weak transcription	Small Intestine	intestine
17	chr15:52334200-52343800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:52334600-52344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:52334600-52344200	Weak transcription	Fetal Kidney	kidney
20	chr15:52334600-52357200	Weak transcription	Fetal Heart	heart
21	chr15:52334800-52350200	Weak transcription	Psoas Muscle	Psoas
22	chr15:52335000-52344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:52335000-52344200	Weak transcription	Hela-S3	cervix
24	chr15:52335000-52348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:52335400-52344200	Weak transcription	Ovary	ovary
26	chr15:52335400-52350800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:52335400-52350800	Weak transcription	Pancreas	Pancrea
28	chr15:52337600-52344000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:52337600-52360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:52337800-52357000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:52338000-52344200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:52338200-52344200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:52338200-52346200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:52338200-52347400	Weak transcription	Stomach Mucosa	stomach
35	chr15:52338200-52351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:52338400-52343600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:52338400-52344200	Weak transcription	Primary B cells from cord blood	blood
38	chr15:52338400-52344200	Weak transcription	Thymus	Thymus
39	chr15:52338400-52347400	Weak transcription	Brain Angular Gyrus	brain
40	chr15:52338600-52346800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:52338800-52345800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:52338800-52347000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:52339000-52344200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr15:52339000-52349000	Strong transcription	Fetal Intestine Small	intestine
45	chr15:52339200-52344200	Weak transcription	Primary T cells from cord blood	blood
46	chr15:52339200-52344200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr15:52339200-52345000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:52339200-52345000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:52339200-52345600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:52339200-52348800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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