Variant report

Variant	rs8113521
Chromosome Location	chr19:38421730-38421731
allele	C/G
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	TCF12	chr19:38421072-38425291	A549	lung:	n/a	chr19:38421714-38421722
2	FOXA2	chr19:38421335-38421948	A549	lung:	n/a	n/a
3	USF2	chr19:38421496-38421763	GM12878	blood:	n/a	n/a
4	USF2	chr19:38421582-38421748	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:
2	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
3	chr19:38420982..38422890-chr19:38471015..38472804,2	MCF-7	breast:
4	chr19:38396701..38399337-chr19:38419695..38422490,2	K562	blood:

Variant related genes	Relation type
SIPA1L3	TF binding region
ENSG00000171804	Chromatin interaction
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10404159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10404567	0.88[CEU][hapmap]
rs10415399	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10415548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10420746	0.83[CEU][hapmap]
rs11083441	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1119229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12608883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1291	0.88[CEU][hapmap]
rs12973580	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12974225	0.88[CEU][hapmap]
rs1643460	0.82[EUR][1000 genomes]
rs1643461	0.86[EUR][1000 genomes]
rs1643466	0.82[CEU][hapmap]
rs1643467	0.83[CEU][hapmap]
rs1643468	0.83[CEU][hapmap]
rs1725481	0.83[CEU][hapmap]
rs1725482	0.88[CEU][hapmap]
rs1725499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075281	0.83[CEU][hapmap]
rs241932	0.88[CEU][hapmap]
rs28460297	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs353411	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs353414	0.83[CEU][hapmap]
rs353415	0.83[CEU][hapmap]
rs353423	0.83[CEU][hapmap]
rs3786869	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3865514	0.81[YRI][hapmap]
rs4239516	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802144	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4802147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802151	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4803524	0.88[CEU][hapmap]
rs4803551	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs705491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs705492	0.83[CEU][hapmap]
rs705493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs705494	0.88[CEU][hapmap]
rs705495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs705499	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7250409	0.88[CEU][hapmap]
rs8102579	0.88[CEU][hapmap]
rs8108434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109053	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109835	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110284	0.83[CEU][hapmap]
rs8112706	0.83[CEU][hapmap]
rs8113273	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs833895	0.83[CEU][hapmap]
rs833926	0.83[CEU][hapmap]
rs856300	0.82[CEU][hapmap]
rs856304	0.88[CEU][hapmap]

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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv960761	chr19:38419928-38422738	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8113521	AC012309.5	cis	Artery Tibial	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
2	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
6	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
10	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:38399800-38421800	Weak transcription	Left Ventricle	heart
12	chr19:38399800-38422400	Weak transcription	Fetal Brain Female	brain
13	chr19:38399800-38422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:38400000-38422000	Weak transcription	HSMM	muscle
15	chr19:38400400-38421800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr19:38400600-38422000	Weak transcription	HSMMtube	muscle
17	chr19:38400600-38422400	Weak transcription	HUVEC	blood vessel
18	chr19:38400800-38422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:38402000-38422600	Weak transcription	Fetal Brain Male	brain
20	chr19:38405200-38422600	Weak transcription	Right Ventricle	heart
21	chr19:38405600-38422800	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:38406000-38422600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:38410200-38422200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:38410200-38422400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:38410400-38422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:38411600-38422600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:38411800-38422200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:38411800-38422200	Weak transcription	NH-A	brain
29	chr19:38411800-38422600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:38411800-38426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:38412000-38422000	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:38412000-38422600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:38412000-38423800	Weak transcription	Lung	lung
34	chr19:38412200-38422600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:38412200-38422800	Weak transcription	Adipose Nuclei	Adipose
36	chr19:38412200-38423000	Weak transcription	Thymus	Thymus
37	chr19:38412800-38422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:38413400-38421800	Weak transcription	Fetal Muscle Leg	muscle
39	chr19:38413400-38422000	Weak transcription	Fetal Stomach	stomach
40	chr19:38417600-38422600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:38417600-38422600	Weak transcription	Ovary	ovary
42	chr19:38418200-38422400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:38418600-38422200	Enhancers	Stomach Mucosa	stomach
44	chr19:38418600-38422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr19:38418600-38422400	Enhancers	Fetal Intestine Large	intestine
46	chr19:38418600-38422600	Enhancers	Primary hematopoietic stem cells	blood
47	chr19:38418800-38422600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr19:38418800-38425600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:38419200-38422400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr19:38419400-38422400	Enhancers	Rectal Mucosa Donor 29	rectum

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