Variant report

Variant	rs12324135
Chromosome Location	chr15:42942696-42942697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42763483..42764457-chr15:42942398..42942922,2	K562	blood:
2	chr15:42376332..42377032-chr15:42942436..42943073,2	MCF-7	breast:
3	chr15:42677853..42678408-chr15:42942399..42943222,2	K562	blood:
4	chr15:42942192..42943864-chr15:42944644..42946826,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10220875	0.81[JPT][hapmap]
rs10438302	0.81[JPT][hapmap]
rs12323990	0.87[EUR][1000 genomes]
rs12324838	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs12592374	0.87[EUR][1000 genomes]
rs12592573	0.87[EUR][1000 genomes]
rs12594378	0.87[EUR][1000 genomes]
rs12594600	0.87[EUR][1000 genomes]
rs12594696	0.87[EUR][1000 genomes]
rs12594699	0.87[EUR][1000 genomes]
rs12594724	0.87[EUR][1000 genomes]
rs12594725	0.87[EUR][1000 genomes]
rs12594765	0.87[EUR][1000 genomes]
rs1317628	0.81[JPT][hapmap]
rs13380301	0.81[JPT][hapmap]
rs16957020	0.80[YRI][hapmap]
rs16957043	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16957055	0.87[EUR][1000 genomes]
rs16957061	0.87[EUR][1000 genomes]
rs16957063	0.87[EUR][1000 genomes]
rs16957120	0.87[EUR][1000 genomes]
rs16957125	0.81[JPT][hapmap]
rs16957138	0.81[JPT][hapmap]
rs16957178	0.81[JPT][hapmap]
rs16957187	0.82[JPT][hapmap]
rs1915242	1.00[EUR][1000 genomes]
rs1915243	0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2175370	0.90[YRI][hapmap]
rs28437884	0.87[EUR][1000 genomes]
rs28680600	0.87[EUR][1000 genomes]
rs28699522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736688	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3742992	0.87[EUR][1000 genomes]
rs3742993	0.80[YRI][hapmap]
rs3742995	0.87[EUR][1000 genomes]
rs4334272	0.87[EUR][1000 genomes]
rs4545789	0.84[YRI][hapmap]
rs4924691	0.93[YRI][hapmap]
rs4924692	1.00[YRI][hapmap]
rs56839966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58237318	0.87[EUR][1000 genomes]
rs58548142	0.87[EUR][1000 genomes]
rs60723187	0.87[EUR][1000 genomes]
rs6493056	0.81[JPT][hapmap]
rs6493059	0.83[YRI][hapmap]
rs7162040	0.81[JPT][hapmap]
rs7163324	0.81[JPT][hapmap]
rs7165249	0.81[JPT][hapmap]
rs7174661	0.90[JPT][hapmap]
rs7178483	0.87[EUR][1000 genomes]
rs73408611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408619	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73410923	0.87[EUR][1000 genomes]
rs73410927	0.87[EUR][1000 genomes]
rs73410931	0.87[EUR][1000 genomes]
rs73410937	0.87[EUR][1000 genomes]
rs73410961	0.87[EUR][1000 genomes]
rs73410969	0.87[EUR][1000 genomes]
rs73410971	0.87[EUR][1000 genomes]
rs73410972	0.87[EUR][1000 genomes]
rs73410973	0.87[EUR][1000 genomes]
rs73410981	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8023743	0.81[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs8024902	0.84[YRI][hapmap]
rs8027319	0.81[JPT][hapmap]
rs8028365	0.87[EUR][1000 genomes]
rs8028699	0.87[EUR][1000 genomes]
rs8032994	0.81[JPT][hapmap]
rs8033336	0.87[EUR][1000 genomes]
rs8039217	0.81[JPT][hapmap]
rs8039438	0.81[JPT][hapmap]
rs8039711	0.87[YRI][hapmap]
rs8043143	0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9920163	0.96[YRI][hapmap]
rs9944270	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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 target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
3	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:42923000-42958200	Weak transcription	Hela-S3	cervix
5	chr15:42924400-42944600	Weak transcription	Thymus	Thymus
6	chr15:42925200-42966000	Weak transcription	NH-A	brain
7	chr15:42925200-42966800	Weak transcription	NHLF	lung
8	chr15:42925600-42961000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:42926400-42947200	Weak transcription	Fetal Brain Male	brain
10	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:42930600-42964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:42930800-42957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:42931200-42949800	Weak transcription	Fetal Heart	heart
15	chr15:42931200-42954600	Weak transcription	Placenta	Placenta
16	chr15:42931200-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:42931400-42944600	Weak transcription	NHDF-Ad	bronchial
18	chr15:42931400-42955800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:42931600-42944000	Weak transcription	Left Ventricle	heart
20	chr15:42931600-42948800	Weak transcription	Brain Anterior Caudate	brain
21	chr15:42931600-42953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:42931600-42955400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:42931800-42955000	Weak transcription	Fetal Lung	lung
24	chr15:42931800-42955000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:42931800-42955600	Weak transcription	Lung	lung
26	chr15:42931800-42957200	Weak transcription	Primary B cells from cord blood	blood
27	chr15:42931800-42958200	Weak transcription	Brain Angular Gyrus	brain
28	chr15:42931800-42968000	Weak transcription	HSMM	muscle
29	chr15:42932000-42944600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:42932000-42944600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:42932000-42944600	Weak transcription	Adipose Nuclei	Adipose
32	chr15:42932000-42958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:42932200-42944600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:42932200-42966200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:42932400-42943800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:42932400-42960000	Weak transcription	Primary T cells from cord blood	blood
37	chr15:42932600-42944400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:42932600-42944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:42932600-42953200	Weak transcription	Fetal Intestine Large	intestine
40	chr15:42932600-42955400	Weak transcription	Aorta	Aorta
41	chr15:42932800-42953000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:42932800-42954000	Weak transcription	Brain Germinal Matrix	brain
43	chr15:42933400-42943400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:42933400-42944400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:42934200-42944400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr15:42934800-42953000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:42935000-42944000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:42936000-42944600	Weak transcription	Fetal Stomach	stomach
49	chr15:42938200-42943200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:42939000-42944000	Weak transcription	Fetal Muscle Leg	muscle

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