Variant report

Variant	rs35401279
Chromosome Location	chr11:9803616-9803617
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9803578-9803721	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
SBF2-AS1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1032550	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770060	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10770064	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10770065	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840305	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840306	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042493	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12788348	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1875029	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1875030	0.88[EUR][1000 genomes]
rs1983002	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1996794	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34328537	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34690050	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360147	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751000	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs429835	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs440377	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910063	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126913	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7934930	0.93[ASN][1000 genomes]
rs7935673	0.93[ASN][1000 genomes]
rs960909	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35401279	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
3	chr11:9787800-9805200	Weak transcription	Colonic Mucosa	Colon
4	chr11:9795200-9812800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9797400-9821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:9797800-9811800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:9798000-9809000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:9798200-9805200	Weak transcription	Fetal Heart	heart
9	chr11:9798200-9810400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:9798400-9805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:9798600-9811600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:9798800-9803800	Strong transcription	Brain Germinal Matrix	brain
13	chr11:9798800-9805000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:9799000-9803800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:9799000-9803800	Strong transcription	Osteobl	bone
16	chr11:9799000-9804000	Strong transcription	NHLF	lung
17	chr11:9799000-9806200	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:9799000-9809200	Strong transcription	Fetal Stomach	stomach
19	chr11:9799200-9803800	Strong transcription	Fetal Lung	lung
20	chr11:9799200-9803800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:9799200-9806200	Strong transcription	Adipose Nuclei	Adipose
22	chr11:9799200-9812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:9799200-9812200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:9799600-9805400	Weak transcription	Right Atrium	heart
25	chr11:9799600-9806200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:9799600-9810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:9799600-9823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:9799800-9811600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:9799800-9812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:9799800-9812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:9799800-9812200	Strong transcription	Liver	Liver
32	chr11:9799800-9814200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:9800000-9803800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9800000-9805000	Strong transcription	Left Ventricle	heart
35	chr11:9800000-9807000	Strong transcription	Ovary	ovary
36	chr11:9800200-9805600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:9800200-9823800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:9800600-9804000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:9800800-9805400	Strong transcription	HSMM	muscle
40	chr11:9800800-9807200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:9801000-9803800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:9801000-9803800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:9801000-9804000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:9801000-9804000	Strong transcription	Fetal Intestine Small	intestine
45	chr11:9801000-9804000	Strong transcription	HSMMtube	muscle
46	chr11:9801000-9806400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:9801200-9804000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:9801200-9805400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:9801200-9809600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:9801600-9823800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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