Variant report

Variant	rs34514942
Chromosome Location	chr4:130011260-130011261
allele	G/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	JUN	chr4:130011233-130011473	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:129731737..129733753-chr4:130010586..130013239,2	MCF-7	breast:
2	chr4:130003975..130008687-chr4:130008780..130012075,4	K562	blood:
3	chr4:130009681..130011304-chr4:130014422..130017412,2	K562	blood:

Variant related genes	Relation type
C4orf33	TF binding region
ENSG00000151466	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000151470	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11098995	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098996	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722717	0.83[ASN][1000 genomes]
rs11723520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725174	0.83[AFR][1000 genomes]
rs11726460	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11728895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728986	0.83[AFR][1000 genomes]
rs11736968	0.83[AFR][1000 genomes]
rs11737003	0.83[AFR][1000 genomes]
rs11737495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500480	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500938	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12501507	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12501997	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12505609	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12509933	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13107038	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115576	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13118479	0.95[ASN][1000 genomes]
rs13124420	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13129706	0.95[ASN][1000 genomes]
rs13134769	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13142673	0.83[AFR][1000 genomes]
rs13144594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146453	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17185515	0.82[ASN][1000 genomes]
rs17351999	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17789626	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34145504	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34359646	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34633860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810794	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35094990	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35363237	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35501727	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35693043	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961303	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35975200	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754476	0.83[AFR][1000 genomes]
rs4552476	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62316964	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62316972	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62317936	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62318662	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66737416	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129985200-130012200	Weak transcription	HSMM	muscle
2	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:129991600-130011800	Weak transcription	Hela-S3	cervix
6	chr4:129991800-130012000	Weak transcription	HUVEC	blood vessel
7	chr4:129992600-130012000	Weak transcription	HepG2	liver
8	chr4:129993000-130012000	Weak transcription	Stomach Mucosa	stomach
9	chr4:129995600-130011400	Weak transcription	A549	lung
10	chr4:129997200-130012000	Weak transcription	NHEK	skin
11	chr4:129999200-130012600	Weak transcription	NH-A	brain
12	chr4:129999400-130011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:130000200-130011400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:130000400-130013000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:130001400-130013000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:130001800-130012000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:130001800-130013000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:130002000-130011800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:130002000-130012600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:130002000-130013200	Weak transcription	Brain Angular Gyrus	brain
21	chr4:130002200-130012000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:130002200-130013400	Weak transcription	Placenta	Placenta
23	chr4:130002600-130011400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:130002600-130012200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:130002800-130011800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:130002800-130011800	Weak transcription	Spleen	Spleen
27	chr4:130002800-130012000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:130002800-130012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:130002800-130013000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:130002800-130013000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:130002800-130013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:130002800-130013000	Weak transcription	Gastric	stomach
33	chr4:130002800-130013000	Weak transcription	Pancreas	Pancrea
34	chr4:130002800-130013000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:130002800-130013000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:130002800-130013200	Weak transcription	Aorta	Aorta
37	chr4:130002800-130013800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:130002800-130013800	Weak transcription	Ovary	ovary
39	chr4:130003000-130011400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:130003000-130011800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:130003000-130011800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:130003000-130011800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:130003000-130012000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:130003000-130012000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:130003000-130012200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:130003000-130012200	Weak transcription	Fetal Stomach	stomach
47	chr4:130003000-130012200	Weak transcription	Osteobl	bone
48	chr4:130003000-130012600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:130003000-130012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:130003000-130012600	Weak transcription	Rectal Mucosa Donor 31	rectum

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