Variant report

Variant	rs1033745
Chromosome Location	chr14:63934952-63934953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63933636..63935458-chr14:63958856..63960563,2	MCF-7	breast:
2	chr14:63932729..63935549-chr14:63936370..63938209,3	MCF-7	breast:
3	chr14:63934058..63936616-chr14:64202473..64205230,2	K562	blood:
4	chr14:63934904..63936738-chr14:63941732..63944394,2	MCF-7	breast:
5	chr14:63933605..63937340-chr14:63947351..63949899,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252749	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1012145	0.93[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10129170	0.96[EUR][1000 genomes]
rs10130074	0.98[EUR][1000 genomes]
rs10132996	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10133014	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10137243	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10137259	0.96[EUR][1000 genomes]
rs10137279	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10138187	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10138274	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10138372	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs10138832	0.96[EUR][1000 genomes]
rs10139028	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139725	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs10140710	0.96[EUR][1000 genomes]
rs10140718	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10141179	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10144700	0.98[EUR][1000 genomes]
rs10145422	0.93[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10146848	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10148185	0.95[EUR][1000 genomes]
rs10149549	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs10152067	0.93[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1033742	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs1033744	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1033747	0.86[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs10483773	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs11158492	0.93[CEU][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158493	0.86[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs11850626	0.93[EUR][1000 genomes]
rs12323479	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12433708	0.82[GIH][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs12434321	0.98[EUR][1000 genomes]
rs1475040	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17093492	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17101205	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17101207	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17101238	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs17101239	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs17101242	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs17225252	0.98[EUR][1000 genomes]
rs17225266	0.98[EUR][1000 genomes]
rs17825105	0.96[EUR][1000 genomes]
rs1951212	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs1951213	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs1957045	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2016629	0.95[EUR][1000 genomes]
rs2064953	0.89[EUR][1000 genomes]
rs2064954	0.89[EUR][1000 genomes]
rs2180876	0.89[EUR][1000 genomes]
rs28372244	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394515	0.96[EUR][1000 genomes]
rs28496722	0.96[EUR][1000 genomes]
rs28522688	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28560307	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28579385	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28592209	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28620591	0.98[EUR][1000 genomes]
rs28683743	0.98[EUR][1000 genomes]
rs28696283	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28711489	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28758626	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3783741	0.93[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs3783743	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4391977	0.93[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4899113	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902226	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902227	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902229	0.89[EUR][1000 genomes]
rs4902232	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs55859128	0.87[EUR][1000 genomes]
rs57760311	0.93[EUR][1000 genomes]
rs60644154	0.98[EUR][1000 genomes]
rs61627079	0.97[EUR][1000 genomes]
rs6573517	0.81[EUR][1000 genomes]
rs6573518	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573519	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573520	0.98[EUR][1000 genomes]
rs6573521	0.80[EUR][1000 genomes]
rs67442217	0.93[EUR][1000 genomes]
rs7140763	0.98[EUR][1000 genomes]
rs7143816	0.93[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144120	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7146069	0.82[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7147222	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7152839	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7153764	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7154559	0.96[EUR][1000 genomes]
rs7161634	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72714239	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72714243	0.81[EUR][1000 genomes]
rs72714258	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714280	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72714283	0.93[EUR][1000 genomes]
rs8003115	0.97[EUR][1000 genomes]
rs8003144	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003246	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8003647	0.93[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003956	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8004170	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs8006981	0.98[EUR][1000 genomes]
rs8007996	1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs8008684	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs8014486	0.96[EUR][1000 genomes]
rs8016306	0.96[EUR][1000 genomes]
rs8017184	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8018107	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8018128	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018307	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018721	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription 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	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1033745	HIF1A	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
2	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
3	chr14:63907000-63935000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:63919800-63937400	Weak transcription	NHLF	lung
5	chr14:63919800-63938200	Weak transcription	Fetal Thymus	thymus
6	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
7	chr14:63920400-63937600	Weak transcription	Fetal Intestine Large	intestine
8	chr14:63920600-63937800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:63920800-63936000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:63920800-63936800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:63921000-63937600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:63921000-63937600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:63921000-63937800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:63921000-63944600	Weak transcription	Dnd41	blood
15	chr14:63921200-63935200	Weak transcription	Primary T cells from cord blood	blood
16	chr14:63921600-63937600	Weak transcription	Fetal Stomach	stomach
17	chr14:63922000-63935000	Weak transcription	NH-A	brain
18	chr14:63922000-63935200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:63922000-63936800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:63922000-63936800	Weak transcription	Esophagus	oesophagus
21	chr14:63922000-63936800	Weak transcription	Gastric	stomach
22	chr14:63922000-63936800	Weak transcription	Lung	lung
23	chr14:63922000-63937600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:63922000-63937600	Weak transcription	Right Ventricle	heart
25	chr14:63922000-63937600	Weak transcription	HSMMtube	muscle
26	chr14:63922000-63938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:63922200-63937400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:63922200-63937600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:63922200-63937600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:63922200-63937600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:63922200-63937600	Weak transcription	HSMM	muscle
33	chr14:63922200-63937600	Weak transcription	Osteobl	bone
34	chr14:63922200-63938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:63922200-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:63925200-63937600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:63925200-63937800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:63927000-63937000	Weak transcription	Stomach Mucosa	stomach
39	chr14:63927200-63935000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:63927200-63935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:63927800-63935000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:63927800-63937600	Weak transcription	Brain Anterior Caudate	brain
43	chr14:63928000-63935800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:63928000-63939600	Weak transcription	Primary B cells from cord blood	blood
45	chr14:63928000-63940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:63928200-63937600	Weak transcription	K562	blood
47	chr14:63928800-63935000	Weak transcription	Fetal Brain Male	brain
48	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:63931400-63935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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