Variant report

Variant	rs1596119
Chromosome Location	chr11:101784040-101784041
allele	C/T
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	chr11:101783182-101787393	HUVEC	blood vessel:	n/a	n/a
2	TCF7L2	chr11:101783458-101784298	HEK293	kidney:	n/a	n/a
3	POLR2A	chr11:101783257-101784193	HUVEC	blood vessel:	n/a	n/a
4	ARID3A	chr11:101783592-101784154	HepG2	liver:	n/a	n/a
5	TCF12	chr11:101783389-101784125	A549	lung:	n/a	n/a
6	POLR2A	chr11:101783358-101784142	HUVEC	blood vessel:	n/a	n/a
7	JUN	chr11:101783378-101784070	HUVEC	blood vessel:	n/a	n/a
8	KAP1	chr11:101783422-101784743	U2OS	brain:	n/a	n/a
9	KAP1	chr11:101783428-101784595	HEK293	kidney:	n/a	n/a
10	POLR2A	chr11:101783314-101784245	HUVEC	blood vessel:	n/a	n/a
11	RFX5	chr11:101783727-101784201	HepG2	liver:	n/a	n/a
12	FOS	chr11:101783354-101784052	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:101783337-101784228	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr11:101783317-101784063	A549	lung:	n/a	n/a
15	GATA2	chr11:101782928-101784074	HUVEC	blood vessel:	n/a	chr11:101783769-101783783
16	SP1	chr11:101783369-101784050	A549	lung:	n/a	n/a

Variant related genes	Relation type
KIAA1377	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10750623	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10750624	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10791543	0.83[ASN][1000 genomes]
rs10791544	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10791547	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10895217	0.81[ASN][1000 genomes]
rs10895222	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895229	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10895233	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1274899	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1274901	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1274902	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12791693	0.80[AMR][1000 genomes]
rs1372413	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1441928	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470195	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1661412	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1783741	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1783742	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2508314	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3740931	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3858419	0.86[ASN][1000 genomes]
rs4363558	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7112084	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7114321	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7122609	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7942191	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7942197	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880474	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs930469	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs976735	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101780800-101785000	Weak transcription	NHEK	skin
2	chr11:101780800-101785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:101781800-101784800	Weak transcription	Aorta	Aorta
4	chr11:101781800-101785200	Weak transcription	Stomach Mucosa	stomach
5	chr11:101782200-101785000	Enhancers	HUVEC	blood vessel
6	chr11:101782600-101784800	Enhancers	A549	lung
7	chr11:101782600-101785000	Enhancers	HepG2	liver
8	chr11:101783000-101784800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:101783400-101784200	Enhancers	Osteobl	bone
10	chr11:101783400-101784400	Enhancers	NHDF-Ad	bronchial
11	chr11:101783400-101784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:101783400-101784600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:101783400-101784600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:101783400-101784800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:101783400-101785000	Enhancers	Ovary	ovary
16	chr11:101783400-101785000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr11:101783400-101785000	Enhancers	Hela-S3	cervix
18	chr11:101783400-101785200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:101783600-101784400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:101783600-101784400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:101783600-101784600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:101783600-101784600	Weak transcription	NH-A	brain
23	chr11:101783600-101784600	Enhancers	NHLF	lung
24	chr11:101783600-101785200	Weak transcription	Fetal Intestine Large	intestine
25	chr11:101783800-101784400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:101783800-101784600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:101783800-101784800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr11:101783800-101785000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:101783800-101785000	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:101783800-101785000	Weak transcription	Fetal Kidney	kidney
31	chr11:101783800-101785200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:101784000-101784400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:101784000-101785000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:101784000-101785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:101784000-101785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:101784000-101785000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:101784000-101785000	Enhancers	Adipose Nuclei	Adipose
38	chr11:101784000-101785400	Weak transcription	Gastric	stomach

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