Variant report

Variant	rs11769174
Chromosome Location	chr7:140707473-140707474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140707015-140708399	K562	blood:	n/a	n/a
2	POLR2A	chr7:140707442-140707546	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:140707371-140707519	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:140707366-140707566	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140621971..140623569-chr7:140707032..140709391,2	MCF-7	breast:
2	chr7:140701510..140704472-chr7:140705422..140707944,2	MCF-7	breast:
3	chr7:140700885..140703018-chr7:140705505..140708464,2	MCF-7	breast:
4	chr7:140706633..140708979-chr7:140709208..140712077,3	MCF-7	breast:
5	chr7:140705945..140708045-chr7:140709551..140711104,2	K562	blood:
6	chr7:140705059..140707957-chr7:140712548..140716287,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273081	TF binding region
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12672764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6464278	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7794979	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7810541	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9886260	0.87[ASN][1000 genomes]
rs9886312	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11769174	MRPS33	Cis_1M	lymphoblastoid	RTeQTL
rs11769174	TMEM178B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:140701400-140713400	Weak transcription	NHLF	lung
4	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney
5	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
6	chr7:140703200-140709400	Weak transcription	HSMM	muscle
7	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
8	chr7:140703400-140713800	Weak transcription	Gastric	stomach
9	chr7:140703600-140710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:140703600-140713800	Weak transcription	Lung	lung
12	chr7:140703800-140707600	Weak transcription	HepG2	liver
13	chr7:140703800-140709200	Weak transcription	Osteobl	bone
14	chr7:140704000-140713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:140704200-140708200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:140704400-140711400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:140704800-140707800	Strong transcription	Primary T cells from cord blood	blood
18	chr7:140704800-140710400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:140704800-140710400	Strong transcription	Fetal Brain Female	brain
20	chr7:140704800-140710600	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:140704800-140711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:140705000-140709800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr7:140705000-140710200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:140705000-140710200	Strong transcription	Fetal Intestine Large	intestine
25	chr7:140705000-140710800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr7:140705000-140711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:140705000-140712200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:140705000-140713600	Weak transcription	NH-A	brain
29	chr7:140705200-140707600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:140705200-140707600	Strong transcription	Aorta	Aorta
31	chr7:140705200-140707800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:140705200-140708400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:140705200-140708400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:140705200-140710000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:140705200-140710000	Strong transcription	Brain Hippocampus Middle	brain
36	chr7:140705200-140710000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:140705200-140710200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:140705200-140710400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:140705200-140710400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:140705200-140710800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:140705200-140710800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:140705200-140710800	Strong transcription	Liver	Liver
43	chr7:140705200-140710800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:140705200-140710800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:140705200-140711400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:140705200-140713200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:140705200-140713200	Weak transcription	Brain Germinal Matrix	brain
48	chr7:140705200-140713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:140705400-140707600	Strong transcription	Brain Anterior Caudate	brain
50	chr7:140705400-140708400	Strong transcription	Brain Substantia Nigra	brain

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