Variant report

Variant	rs1047551
Chromosome Location	chr7:111983278-111983279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111982916..111985880-chr7:111989635..111992335,2	K562	blood:
2	chr7:111979755..111984894-chr7:111986750..111988962,5	K562	blood:
3	chr7:111981020..111983369-chr7:111995911..111998371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226851	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10046468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224789	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10227494	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232109	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232110	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237213	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239663	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246422	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248314	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251698	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266976	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269057	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275406	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276853	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282279	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047550	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[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];1.00[ASN][1000 genomes]
rs12530699	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537934	1.00[ASN][1000 genomes]
rs17159353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17159566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17159604	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17491423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894646	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3109106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3109108	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3109116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3109117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3128395	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35134215	1.00[ASN][1000 genomes]
rs41281060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56132236	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341778	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	1.00[ASN][1000 genomes]
rs61669542	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67064485	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67604537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943448	1.00[ASN][1000 genomes]
rs6944498	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6947063	1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs6950282	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6969176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6971023	1.00[ASN][1000 genomes]
rs73192992	1.00[ASN][1000 genomes]
rs73192993	1.00[ASN][1000 genomes]
rs73193000	1.00[ASN][1000 genomes]
rs73195204	1.00[ASN][1000 genomes]
rs73195211	1.00[ASN][1000 genomes]
rs73195218	1.00[ASN][1000 genomes]
rs73195220	1.00[ASN][1000 genomes]
rs73195223	1.00[ASN][1000 genomes]
rs73195224	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197338	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197376	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786555	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	1.00[ASN][1000 genomes]
rs7806811	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7810734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812188	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv2762697	chr7:111983278-111988953	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1047551	TTR	trans	brain	seeQTL
rs1047551	LRTM1	trans	brain	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
3	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
6	chr7:111961800-111986000	Weak transcription	K562	blood
7	chr7:111963800-111984400	Weak transcription	HMEC	breast
8	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
11	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
12	chr7:111966000-111989600	Weak transcription	Gastric	stomach
13	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
14	chr7:111966600-111984800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:111967600-111983600	Weak transcription	Pancreas	Pancrea
18	chr7:111967600-111986800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:111968400-111985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:111969400-111985400	Strong transcription	Dnd41	blood
21	chr7:111971000-111984000	Strong transcription	Primary T cells from cord blood	blood
22	chr7:111973400-111984400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:111974600-111985400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:111974800-111985000	Strong transcription	Liver	Liver
25	chr7:111975400-111984400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:111977400-111983400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:111977400-111984400	Strong transcription	Adipose Nuclei	Adipose
28	chr7:111977600-111983800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:111977600-111983800	Strong transcription	Fetal Thymus	thymus
30	chr7:111977600-111984400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:111977600-111991000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:111977800-111983400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:111977800-111985400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:111977800-111986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:111978000-111984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:111978000-111984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:111978200-111984200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:111978200-111986000	Strong transcription	Left Ventricle	heart
39	chr7:111978400-111983800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:111978400-111987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:111978400-111989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:111978400-111990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:111978400-111990400	Weak transcription	Brain Germinal Matrix	brain
44	chr7:111978600-111986600	Weak transcription	Lung	lung
45	chr7:111978600-111990400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:111978800-111983800	Strong transcription	HSMM	muscle
47	chr7:111978800-111984000	Weak transcription	Psoas Muscle	Psoas
48	chr7:111979000-111984600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:111979400-111985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:111979800-111983800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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