Variant report

Variant	rs7748231
Chromosome Location	chr6:45501552-45501553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45492484..45494517-chr6:45500925..45504439,3	MCF-7	breast:
2	chr6:45343562..45346132-chr6:45499929..45501606,2	K562	blood:
3	chr6:45499803..45501981-chr6:45505161..45507219,2	MCF-7	breast:
4	chr6:45495679..45498360-chr6:45500683..45502256,2	MCF-7	breast:
5	chr6:45488190..45490871-chr6:45499883..45502171,2	K562	blood:
6	chr6:45489352..45491036-chr6:45501412..45503775,2	MCF-7	breast:
7	chr6:45495193..45499204-chr6:45499654..45504200,4	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10214519	1.00[JPT][hapmap]
rs10485422	0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10948236	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948238	1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756145	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1200428	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12195878	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12197948	1.00[JPT][hapmap]
rs12204049	0.83[ASN][1000 genomes]
rs12209785	0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12210100	1.00[JPT][hapmap]
rs1316330	1.00[JPT][hapmap]
rs1317777	1.00[JPT][hapmap]
rs13201287	0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13207392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1928533	0.88[ASW][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1934327	1.00[JPT][hapmap]
rs1934329	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031966	1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs2396442	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2677110	1.00[JPT][hapmap]
rs2790098	1.00[JPT][hapmap]
rs2819864	1.00[JPT][hapmap]
rs2819866	1.00[JPT][hapmap]
rs4438954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4714854	1.00[JPT][hapmap]
rs6458445	0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs6458446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6458447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904353	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905181	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6905847	0.94[ASW][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs6911664	1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs6915569	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864634	0.83[ASN][1000 genomes]
rs7754187	0.91[YRI][hapmap]
rs7755257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs7756094	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7760160	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7772562	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9472494	1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1019561	chr6:45485826-45535222	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv538214	chr6:45485826-45535222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7748231	RPL7L1	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45481400-45514600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:45482600-45503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:45482800-45514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:45484400-45509400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:45484400-45514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:45489000-45504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:45489000-45521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:45491600-45505400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:45492400-45502000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:45492600-45502200	Weak transcription	NH-A	brain
12	chr6:45493200-45516200	Weak transcription	Hela-S3	cervix
13	chr6:45496600-45503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:45497400-45506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:45498000-45507800	Weak transcription	Fetal Thymus	thymus
16	chr6:45498600-45503400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:45498600-45503400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:45498600-45514600	Weak transcription	Dnd41	blood
19	chr6:45499000-45503400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:45500000-45501600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:45500000-45501600	Enhancers	HSMMtube	muscle
22	chr6:45500200-45513800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:45500400-45501600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:45500400-45501600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:45500400-45503200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:45500400-45503400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:45500400-45505800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:45500600-45501600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:45500600-45501600	Active TSS	Brain Anterior Caudate	brain
30	chr6:45500600-45501600	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:45500600-45501600	Active TSS	NHDF-Ad	bronchial
32	chr6:45500600-45506400	Weak transcription	Gastric	stomach
33	chr6:45500600-45508000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:45500600-45514600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:45500600-45516600	Weak transcription	Small Intestine	intestine
36	chr6:45501000-45501600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr6:45501000-45501600	Flanking Active TSS	NHLF	lung
38	chr6:45501000-45503800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:45501200-45501600	Enhancers	Colon Smooth Muscle	Colon
40	chr6:45501200-45502000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:45501200-45502000	Weak transcription	Osteobl	bone
42	chr6:45501200-45502200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:45501200-45507800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:45501200-45510600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:45501400-45501600	Enhancers	Fetal Lung	lung
46	chr6:45501400-45502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:45501400-45502200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:45501400-45502800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:45501400-45503400	Weak transcription	Stomach Mucosa	stomach
50	chr6:45501400-45503600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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