Variant report

Variant	rs2052769
Chromosome Location	chr4:119759900-119759901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:119759897-119759947	RPTEC	kidney:	n/a
2	chr4:119759897-119759947	HCM	heart:	n/a
3	chr4:119759897-119759947	AG09319	gingival:	n/a
4	chr4:119759900-119759950	HAEpiC	amniotic membrane:	n/a
5	chr4:119759900-119759950	HIPEpiC	eye:	n/a
6	chr4:119759897-119759947	AG09309	skin:	n/a
7	chr4:119759900-119759950	HCM	heart:	n/a
8	chr4:119759897-119759947	Hela-S3	cervix:	n/a
9	chr4:119759900-119759950	HUVEC	blood vessel:	n/a
10	chr4:119759900-119759950	NH-A	brain:	n/a
11	chr4:119759900-119759950	GM12891	blood:	n/a
12	chr4:119759897-119759947	ProgFib	skin:	n/a
13	chr4:119759900-119759950	BE2_C	brain:	n/a
14	chr4:119759900-119759950	AG04450	lung:	fetal
15	chr4:119759900-119759950	AoSMC	blood vessel:	n/a
16	chr4:119759897-119759947	PFSK-1	brain:	n/a
17	chr4:119759900-119759950	AG10803	skin:	n/a
18	chr4:119759897-119759947	AG04450	lung:	fetal
19	chr4:119759900-119759950	Caco-2	colon:	n/a
20	chr4:119759897-119759947	HRCEpiC	kidney:	n/a
21	chr4:119759900-119759950	AG04449	skin:	fetal
22	chr4:119759897-119759947	HCT-116	colon:	n/a
23	chr4:119759900-119759950	Hepatocyte	liver:	n/a
24	chr4:119759897-119759947	HMEC	breast:	n/a
25	chr4:119759897-119759947	NH-A	brain:	n/a
26	chr4:119759900-119759950	SAEC	small airway:	n/a
27	chr4:119759900-119759950	K562	blood:	n/a
28	chr4:119759897-119759947	SK-N-SH_RA	brain:	n/a
29	chr4:119759897-119759947	HL-60	blood:	n/a
30	chr4:119759897-119759947	IMR90	lung:	fetal
31	chr4:119759897-119759947	U87	brain:	n/a
32	chr4:119759897-119759947	NHBE	bronchial:	n/a
33	chr4:119759900-119759950	NB4	blood:	n/a
34	chr4:119759897-119759947	K562	blood:	n/a
35	chr4:119759900-119759950	HRE	kidney:	n/a
36	chr4:119759900-119759950	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:119759900-119759950	HNPCEpiC	eye:	n/a
38	chr4:119759897-119759947	H1-hESC	embryonic stem cell:	embryo
39	chr4:119759900-119759950	A549	lung:	n/a
40	chr4:119759897-119759947	Hepatocyte	liver:	n/a
41	chr4:119759900-119759950	HRCEpiC	kidney:	n/a
42	chr4:119759897-119759947	SK-N-SH	brain:	n/a
43	chr4:119759900-119759950	AG09319	gingival:	n/a
44	chr4:119759897-119759947	GM06990	blood:	n/a
45	chr4:119759900-119759950	SK-N-MC	brain:	n/a
46	chr4:119759900-119759950	ECC-1	luminal epithelium:	n/a
47	chr4:119759897-119759947	HIPEpiC	eye:	n/a
48	chr4:119759897-119759947	AG04449	skin:	fetal
49	chr4:119759897-119759947	MCF-7	breast:	n/a
50	chr4:119759897-119759947	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119755941..119757728-chr4:119758590..119760561,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEC24D	CpG island
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10014331	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10019751	0.95[ASN][1000 genomes]
rs11730732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944285	0.89[ASN][1000 genomes]
rs28469651	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28706123	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28783784	0.90[ASN][1000 genomes]
rs6848274	0.95[ASN][1000 genomes]
rs767193	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9884928	0.94[ASN][1000 genomes]
rs992463	0.84[AMR][1000 genomes];1.00[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking 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	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119758000-119762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119758000-119764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:119758000-119764600	Weak transcription	Psoas Muscle	Psoas
4	chr4:119758200-119762400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:119758200-119762800	Weak transcription	HSMM	muscle
6	chr4:119758200-119766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:119758200-119771200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:119758400-119762200	Weak transcription	NH-A	brain
9	chr4:119758400-119762200	Weak transcription	Osteobl	bone
10	chr4:119758400-119762400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119758400-119762400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:119758400-119762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:119758400-119762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:119758400-119762600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:119758400-119762600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:119758400-119762600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:119758400-119762600	Weak transcription	HUVEC	blood vessel
18	chr4:119758400-119762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:119758400-119762800	Weak transcription	HMEC	breast
20	chr4:119758400-119762800	Weak transcription	NHDF-Ad	bronchial
21	chr4:119758400-119763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:119758400-119763000	Weak transcription	NHLF	lung
23	chr4:119758600-119762200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:119758600-119762200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:119758600-119762600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:119758600-119762800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:119758600-119763400	Weak transcription	NHEK	skin
28	chr4:119758800-119762600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:119759600-119760200	Enhancers	Fetal Muscle Leg	muscle
30	chr4:119759800-119760400	Weak transcription	HSMMtube	muscle
31	chr4:119759800-119762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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