Variant report

Variant	rs1512351
Chromosome Location	chr8:104053283-104053284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104032224..104033767-chr8:104051242..104053456,2	MCF-7	breast:
2	chr8:104051919..104053637-chr8:104061729..104063502,2	MCF-7	breast:
3	chr8:104046808..104050874-chr8:104051306..104055177,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254236	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1019975	1.00[LWK][hapmap]
rs12547652	1.00[LWK][hapmap]
rs12548316	1.00[YRI][hapmap]
rs1398270	0.82[CHB][hapmap]
rs1398271	0.82[CHB][hapmap]
rs1533182	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17199777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454044	0.82[CHB][hapmap]
rs2515201	0.82[CHB][hapmap]
rs3808549	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808551	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734672	1.00[LWK][hapmap]
rs4734674	1.00[LWK][hapmap]
rs55635754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.86[EUR][1000 genomes]
rs55844983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249406	0.85[AMR][1000 genomes]
rs56370378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059899	0.86[EUR][1000 genomes]
rs57205128	0.86[EUR][1000 genomes]
rs6998032	1.00[LWK][hapmap]
rs72667277	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667278	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667279	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667281	0.86[EUR][1000 genomes]
rs72667282	0.86[EUR][1000 genomes]
rs72667289	0.86[EUR][1000 genomes]
rs72667290	0.86[EUR][1000 genomes]
rs72667292	0.86[EUR][1000 genomes]
rs72667301	0.90[EUR][1000 genomes]
rs72669305	0.90[EUR][1000 genomes]
rs72669319	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669327	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669337	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72669356	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73288580	0.86[EUR][1000 genomes]
rs7844885	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1512351	BAALC	cis	cerebellum	SCAN
rs1512351	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
2	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
4	chr8:104034600-104059800	Weak transcription	A549	lung
5	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
6	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
7	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:104034800-104058800	Weak transcription	HSMM	muscle
11	chr8:104034800-104058800	Weak transcription	NH-A	brain
12	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
13	chr8:104034800-104074600	Weak transcription	NHEK	skin
14	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
15	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:104035400-104054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:104035600-104054200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:104035600-104054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:104035600-104054600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:104035800-104053600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:104035800-104054200	Weak transcription	Fetal Lung	lung
25	chr8:104035800-104054200	Weak transcription	Dnd41	blood
26	chr8:104035800-104059400	Weak transcription	Thymus	Thymus
27	chr8:104035800-104061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:104036000-104056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:104036200-104054000	Weak transcription	Fetal Thymus	thymus
30	chr8:104036200-104054200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:104036200-104065200	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:104036400-104054200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:104036800-104054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:104036800-104061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:104037200-104063400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
37	chr8:104038000-104066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:104038200-104054600	Weak transcription	K562	blood
39	chr8:104038400-104059400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:104038600-104059400	Weak transcription	Gastric	stomach
41	chr8:104039000-104069400	Weak transcription	Spleen	Spleen
42	chr8:104039200-104054200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:104039800-104061200	Weak transcription	GM12878-XiMat	blood
44	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:104040600-104054200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
47	chr8:104041000-104059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:104042600-104054600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:104043000-104053800	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:104043400-104056000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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