Variant report

Variant	rs6467190
Chromosome Location	chr7:128238786-128238787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1013515	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10230965	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10231476	0.87[ASN][1000 genomes]
rs10232401	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10243297	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10246093	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10246261	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10251475	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10251597	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12381410	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386692	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402930	0.83[EUR][1000 genomes]
rs28479078	0.83[EUR][1000 genomes]
rs28525628	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28670000	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28788212	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs339075	0.89[ASN][1000 genomes]
rs4642561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979384	0.83[EUR][1000 genomes]
rs6943009	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952963	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463166	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73465114	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73465147	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73465150	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73465155	0.84[EUR][1000 genomes];0.90[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	esv1848097	chr7:128179503-128248497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv1810084	chr7:128201902-128248697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1829966	chr7:128201902-128248697	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1847512	chr7:128201902-128248697	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv966885	chr7:128212815-128256300	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6467190	RP11-274B21.4	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
2	chr7:128197800-128241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128200000-128258800	Weak transcription	Right Ventricle	heart
4	chr7:128204800-128258800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:128213400-128238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:128217800-128244000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:128219400-128249200	Weak transcription	Fetal Heart	heart
8	chr7:128220800-128249200	Weak transcription	A549	lung
9	chr7:128223800-128258800	Weak transcription	Lung	lung
10	chr7:128226400-128258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:128230000-128249200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:128230800-128240400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:128231000-128241800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:128233000-128238800	Weak transcription	NHEK	skin
15	chr7:128233200-128238800	Weak transcription	Fetal Brain Male	brain
16	chr7:128233200-128258800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:128233200-128258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:128233400-128238800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:128233400-128238800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:128233400-128238800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:128233400-128239000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:128233400-128239400	Weak transcription	Colonic Mucosa	Colon
23	chr7:128233400-128249200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:128233400-128249200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:128233400-128249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:128233400-128249200	Weak transcription	Fetal Kidney	kidney
27	chr7:128233400-128249200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:128233400-128249200	Weak transcription	HUVEC	blood vessel
29	chr7:128233400-128249200	Weak transcription	NH-A	brain
30	chr7:128233400-128249200	Weak transcription	NHLF	lung
31	chr7:128233400-128258400	Weak transcription	Thymus	Thymus
32	chr7:128233400-128258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:128233400-128258800	Weak transcription	Aorta	Aorta
34	chr7:128233400-128258800	Weak transcription	Esophagus	oesophagus
35	chr7:128233400-128258800	Weak transcription	Spleen	Spleen
36	chr7:128233400-128259000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:128233400-128259000	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:128233400-128259600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:128233400-128272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:128233600-128238800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:128233600-128239000	Weak transcription	NHDF-Ad	bronchial
42	chr7:128233600-128249200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:128233600-128249200	Weak transcription	GM12878-XiMat	blood
44	chr7:128233600-128258800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:128233800-128239600	Weak transcription	Adipose Nuclei	Adipose
46	chr7:128233800-128257600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:128233800-128258800	Weak transcription	Fetal Brain Female	brain
48	chr7:128234400-128238800	Weak transcription	HSMMtube	muscle
49	chr7:128234400-128249200	Weak transcription	HSMM	muscle
50	chr7:128234400-128249400	Weak transcription	Stomach Smooth Muscle	stomach

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