Variant report

Variant	rs13232193
Chromosome Location	chr7:66016738-66016739
allele	A/C
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	chr7:66016657-66016764	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:66016597-66016875	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:66016504-66016747	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66013223..66015993-chr7:66016033..66017607,2	K562	blood:

Variant related genes	Relation type
ENSG00000232491	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1267816	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1267817	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267818	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267819	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1267820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698542	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13222887	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13224048	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13235972	0.87[AFR][1000 genomes]
rs13237037	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13237344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241548	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13242216	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1618893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638731	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1638734	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638736	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1796215	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1796220	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796228	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796229	0.86[AMR][1000 genomes]
rs1882655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1922723	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2141924	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2178742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2420609	0.96[ASN][1000 genomes]
rs2533287	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2533288	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2659903	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2659911	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707823	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2707826	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2707828	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2707830	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2707831	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707832	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707833	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707838	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707840	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707844	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34073431	0.96[ASN][1000 genomes]
rs34162778	0.87[AFR][1000 genomes]
rs34192067	0.87[AFR][1000 genomes]
rs34700450	0.87[AFR][1000 genomes]
rs34807232	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35261784	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35370033	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35823062	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35825036	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36104268	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3800822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs3936	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58668827	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58669269	0.87[AFR][1000 genomes]
rs60326618	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6460312	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66630579	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71563118	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71563136	0.87[AFR][1000 genomes]
rs73135918	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73150635	0.95[ASN][1000 genomes]
rs778691	0.87[AFR][1000 genomes]
rs778693	0.87[AFR][1000 genomes]
rs778701	0.87[AFR][1000 genomes]
rs778704	0.87[AFR][1000 genomes]
rs778729	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs778732	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13232193	RP4-756H11.3	cis	lung	GTEx
rs13232193	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs13232193	GUSB	cis	Whole Blood	GTEx
rs13232193	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs13232193	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs13232193	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65995000-66017200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
3	chr7:66000600-66019200	Weak transcription	Fetal Kidney	kidney
4	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
5	chr7:66003600-66018800	Weak transcription	GM12878-XiMat	blood
6	chr7:66003800-66022200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
8	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:66004800-66019200	Weak transcription	HUVEC	blood vessel
10	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
11	chr7:66005000-66016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:66005800-66016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:66006000-66020000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:66006000-66022200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:66006200-66019400	Strong transcription	Adipose Nuclei	Adipose
17	chr7:66006200-66021000	Strong transcription	Fetal Intestine Large	intestine
18	chr7:66006200-66022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:66006200-66022400	Strong transcription	Lung	lung
20	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
23	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain
24	chr7:66006600-66022800	Weak transcription	Fetal Brain Male	brain
25	chr7:66007600-66021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:66008000-66017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:66008200-66017000	Weak transcription	NH-A	brain
28	chr7:66008200-66022000	Weak transcription	Right Atrium	heart
29	chr7:66008200-66022200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:66008400-66022600	Weak transcription	Fetal Heart	heart
31	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:66008800-66022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:66008800-66022400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:66008800-66022600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:66009000-66020200	Strong transcription	Fetal Thymus	thymus
36	chr7:66009000-66020600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:66009000-66022800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:66009000-66023000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:66009000-66031400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:66009200-66020200	Strong transcription	Brain Hippocampus Middle	brain
41	chr7:66009200-66023600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:66009200-66029400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:66010200-66017400	Weak transcription	Primary B cells from cord blood	blood
44	chr7:66010800-66016800	Weak transcription	Small Intestine	intestine
45	chr7:66011000-66018600	Weak transcription	Aorta	Aorta
46	chr7:66011000-66037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:66012200-66020000	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr7:66012400-66018000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:66012400-66019800	Strong transcription	Right Ventricle	heart

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