Variant report

Variant	rs2733181
Chromosome Location	chr15:57314894-57314895
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57179828..57184056-chr15:57314164..57317264,3	K562	blood:
2	chr15:57310993..57315176-chr15:57315668..57319705,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11630195	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11631228	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11631541	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11858471	0.84[ASN][1000 genomes]
rs12898327	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12899187	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12899915	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12900986	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12901780	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12904070	0.81[ASN][1000 genomes]
rs12905900	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12906873	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12906936	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12909811	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12914625	0.84[ASN][1000 genomes]
rs12916237	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12916958	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12917247	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1430823	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1628067	0.81[AMR][1000 genomes]
rs17239040	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17819700	0.82[ASN][1000 genomes]
rs2111891	0.84[AMR][1000 genomes]
rs2116065	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2116066	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2583108	0.80[AMR][1000 genomes]
rs2585082	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2585087	0.83[AMR][1000 genomes]
rs2733171	0.83[AMR][1000 genomes]
rs2733176	0.82[AMR][1000 genomes]
rs2962993	0.80[AMR][1000 genomes]
rs34262415	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35646942	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3803454	0.82[AMR][1000 genomes]
rs62022986	0.86[AMR][1000 genomes]
rs62022988	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62025331	0.82[AMR][1000 genomes]
rs7170133	0.81[ASN][1000 genomes]
rs7496293	0.91[ASN][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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2733181	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57282000-57315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:57282200-57315200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr15:57289600-57315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:57289600-57315600	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:57289800-57315600	Weak transcription	Primary B cells from cord blood	blood
6	chr15:57297200-57316800	Weak transcription	Fetal Stomach	stomach
7	chr15:57299200-57316000	Weak transcription	Right Ventricle	heart
8	chr15:57299200-57317200	Weak transcription	Esophagus	oesophagus
9	chr15:57303600-57317600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:57307800-57323400	Weak transcription	Pancreas	Pancrea
11	chr15:57308000-57317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:57308000-57328000	Weak transcription	Gastric	stomach
13	chr15:57308800-57323400	Weak transcription	Small Intestine	intestine
14	chr15:57309200-57323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:57309400-57315000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:57309400-57323000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:57309400-57334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:57309600-57316000	Weak transcription	Fetal Intestine Small	intestine
19	chr15:57309600-57317200	Weak transcription	Psoas Muscle	Psoas
20	chr15:57309600-57323200	Weak transcription	Thymus	Thymus
21	chr15:57310000-57317000	Weak transcription	Fetal Lung	lung
22	chr15:57310400-57315000	Weak transcription	Primary T cells from cord blood	blood
23	chr15:57310800-57323400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:57311000-57316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:57311000-57317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:57311000-57317200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:57311000-57317400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:57311000-57317400	Weak transcription	Left Ventricle	heart
29	chr15:57311000-57347000	Weak transcription	Fetal Intestine Large	intestine
30	chr15:57311800-57316800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:57312000-57316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:57312000-57317600	Weak transcription	NHEK	skin
33	chr15:57312000-57318600	Weak transcription	Aorta	Aorta
34	chr15:57312200-57317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:57312200-57317400	Weak transcription	Brain Anterior Caudate	brain
36	chr15:57312400-57317200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:57312400-57317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:57312400-57317400	Weak transcription	Ovary	ovary
39	chr15:57312400-57317600	Weak transcription	A549	lung
40	chr15:57312400-57317600	Weak transcription	HSMM	muscle
41	chr15:57312400-57323000	Weak transcription	K562	blood
42	chr15:57312600-57316600	Weak transcription	Hela-S3	cervix
43	chr15:57312600-57317200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:57312600-57317200	Weak transcription	HMEC	breast
45	chr15:57312600-57317400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:57312600-57317600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:57312600-57317600	Weak transcription	NH-A	brain
48	chr15:57312600-57317800	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:57312800-57316000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:57312800-57317400	Weak transcription	Muscle Satellite Cultured Cells	--

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