Variant report

Variant	rs8031383
Chromosome Location	chr15:42842865-42842866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42842857-42842879	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42831892..42833394-chr15:42842202..42844793,2	K562	blood:
2	chr15:42841157..42842930-chr15:42866343..42868904,2	MCF-7	breast:
3	chr15:42842458..42844772-chr15:42862212..42863902,2	K562	blood:

Variant related genes	Relation type
LRRC57	TF binding region
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1044866	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11541527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973349	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090286	0.85[AFR][1000 genomes]
rs5009460	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57249373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57349778	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58122107	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58562675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58952814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59058205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59091063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60060355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60168929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60697170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60839827	1.00[AMR][1000 genomes]
rs61368952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474811	0.85[AMR][1000 genomes]
rs6493048	0.92[AFR][1000 genomes]
rs6493049	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493050	0.95[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166143	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166633	0.87[AMR][1000 genomes]
rs7172064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7172955	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7175059	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs7178822	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7181938	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402762	0.85[AMR][1000 genomes]
rs73402776	0.85[AMR][1000 genomes]
rs73402796	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404729	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404754	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406553	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406557	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs768118	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8023948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027207	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8031883	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033555	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033810	1.00[AMR][1000 genomes]
rs8034001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8035877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8036927	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8037277	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8040624	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42841600-42850800	Weak transcription	Pancreas	Pancrea
2	chr15:42841600-42851000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:42841600-42851200	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:42841600-42851600	Weak transcription	Lung	lung
5	chr15:42841600-42852000	Weak transcription	Gastric	stomach
6	chr15:42841600-42853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:42841600-42854200	Weak transcription	Aorta	Aorta
8	chr15:42841600-42854200	Weak transcription	Esophagus	oesophagus
9	chr15:42841600-42854200	Weak transcription	Spleen	Spleen
10	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
11	chr15:42841800-42843600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:42841800-42848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:42841800-42850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:42841800-42867000	Weak transcription	Ovary	ovary
16	chr15:42842000-42843000	Flanking Active TSS	Dnd41	blood
17	chr15:42842000-42843000	Flanking Active TSS	Hela-S3	cervix
18	chr15:42842000-42843400	Enhancers	Primary B cells from peripheral blood	blood
19	chr15:42842200-42843000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr15:42842200-42843000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:42842200-42843000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr15:42842200-42843400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr15:42842200-42843800	Enhancers	Brain Germinal Matrix	brain
24	chr15:42842200-42848600	Weak transcription	Fetal Intestine Large	intestine
25	chr15:42842200-42850200	Weak transcription	Primary T cells from cord blood	blood
26	chr15:42842200-42850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:42842200-42850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:42842200-42851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:42842200-42851400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:42842200-42853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:42842200-42854200	Weak transcription	Right Ventricle	heart
32	chr15:42842200-42856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
34	chr15:42842400-42843000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr15:42842400-42844000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr15:42842400-42844800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr15:42842400-42845800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:42842400-42848000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:42842400-42848800	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:42842400-42849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:42842400-42849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:42842400-42849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:42842400-42849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:42842400-42850400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:42842400-42850400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:42842400-42850600	Weak transcription	Fetal Intestine Small	intestine
47	chr15:42842400-42850800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:42842400-42850800	Weak transcription	HMEC	breast
49	chr15:42842400-42851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:42842400-42851000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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