Variant report

Variant	rs8034843
Chromosome Location	chr15:57581309-57581310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57576732..57578817-chr15:57580600..57582934,2	K562	blood:
2	chr15:57574753..57576261-chr15:57580804..57583117,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10467927	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10467928	0.85[JPT][hapmap]
rs10467929	0.85[JPT][hapmap]
rs11071308	0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap]
rs11853810	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11856210	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs13379847	0.85[JPT][hapmap]
rs16977243	0.95[GIH][hapmap]
rs16977270	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs16977278	0.88[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.80[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs16977306	0.82[CEU][hapmap]
rs16977374	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2169467	0.85[JPT][hapmap]
rs2593211	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap]
rs2593249	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2593252	0.84[JPT][hapmap]
rs2615226	0.92[ASN][1000 genomes]
rs2615227	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs2703614	0.95[GIH][hapmap];0.85[JPT][hapmap]
rs2733323	0.88[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs2733333	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs2733334	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs28445470	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28653088	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803453	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4774915	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4774916	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4774921	0.83[ASN][1000 genomes]
rs55742030	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6493907	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7164298	0.88[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164914	0.86[ASN][1000 genomes]
rs7173477	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7173748	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs7179311	0.88[CEU][hapmap]
rs7180558	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.93[ASN][1000 genomes]
rs7181399	0.82[CEU][hapmap]
rs8024901	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.97[ASN][1000 genomes]
rs8026702	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs8031866	0.85[YRI][hapmap]
rs8034502	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8034744	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs8035916	0.83[JPT][hapmap]
rs8037901	0.89[YRI][hapmap]
rs8037956	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8039176	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9672676	0.85[TSI][hapmap]
rs9806170	0.87[GIH][hapmap]
rs9806199	0.85[JPT][hapmap]
rs997683	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv526342	chr15:57565859-57597280	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8034843	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
2	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
3	chr15:57552200-57588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57553200-57585000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:57557000-57584600	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:57557600-57588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:57562600-57584200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr15:57562600-57584600	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:57564000-57582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:57564000-57583600	Strong transcription	Dnd41	blood
11	chr15:57564800-57584600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:57565000-57583400	Strong transcription	Thymus	Thymus
13	chr15:57565600-57584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:57566000-57584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
16	chr15:57568000-57582600	Weak transcription	Aorta	Aorta
17	chr15:57568000-57588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
20	chr15:57568600-57583800	Strong transcription	Fetal Intestine Large	intestine
21	chr15:57571400-57582200	Strong transcription	HSMM	muscle
22	chr15:57571400-57583600	Strong transcription	Liver	Liver
23	chr15:57571400-57584800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:57572200-57583200	Strong transcription	Placenta	Placenta
25	chr15:57572200-57584200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:57573200-57583000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:57573400-57581800	Strong transcription	NH-A	brain
28	chr15:57573800-57589000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:57574000-57583200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:57574200-57583400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:57574600-57581400	Strong transcription	HUVEC	blood vessel
32	chr15:57575000-57589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:57575200-57583000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:57575400-57582800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:57575400-57583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:57576800-57581400	Strong transcription	K562	blood
37	chr15:57576800-57582200	Weak transcription	Fetal Intestine Small	intestine
38	chr15:57577000-57581400	Strong transcription	Primary T cells from cord blood	blood
39	chr15:57577000-57583400	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:57577400-57582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:57577800-57581600	Strong transcription	Osteobl	bone
42	chr15:57577800-57582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:57578000-57583200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:57578200-57582800	Weak transcription	Gastric	stomach
45	chr15:57578200-57583400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:57578200-57589200	Weak transcription	Pancreas	Pancrea
47	chr15:57578600-57582600	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:57578600-57591600	Weak transcription	Spleen	Spleen
49	chr15:57578600-57598200	Weak transcription	Right Ventricle	heart
50	chr15:57578800-57581600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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