Variant report

Variant	rs72876217
Chromosome Location	chr4:95405653-95405654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr4:95405645-95405843	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:95398573..95401933-chr4:95402630..95406147,4	K562	blood:
2	chr4:95373056..95374638-chr4:95404253..95405960,2	K562	blood:
3	chr4:95360834..95362650-chr4:95405154..95407067,2	K562	blood:
4	chr4:95404882..95407708-chr4:95454593..95456419,2	K562	blood:
5	chr4:95371236..95373798-chr4:95405338..95407482,2	K562	blood:

No data

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11097429	1.00[EUR][1000 genomes]
rs11932136	1.00[EUR][1000 genomes]
rs11932224	1.00[EUR][1000 genomes]
rs11933735	1.00[EUR][1000 genomes]
rs11935012	1.00[EUR][1000 genomes]
rs11935039	1.00[EUR][1000 genomes]
rs11935947	1.00[EUR][1000 genomes]
rs11938329	1.00[EUR][1000 genomes]
rs11938449	1.00[EUR][1000 genomes]
rs11939756	1.00[EUR][1000 genomes]
rs11940613	1.00[EUR][1000 genomes]
rs11941259	1.00[EUR][1000 genomes]
rs11941353	1.00[EUR][1000 genomes]
rs11942920	1.00[EUR][1000 genomes]
rs11946663	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56827347	1.00[EUR][1000 genomes]
rs58528979	1.00[EUR][1000 genomes]
rs6845278	1.00[ASN][1000 genomes]
rs6845473	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874705	1.00[EUR][1000 genomes]
rs72874730	1.00[EUR][1000 genomes]
rs72874733	1.00[EUR][1000 genomes]
rs72874739	1.00[EUR][1000 genomes]
rs72874745	1.00[EUR][1000 genomes]
rs72874752	1.00[EUR][1000 genomes]
rs72874760	1.00[EUR][1000 genomes]
rs72874763	1.00[EUR][1000 genomes]
rs72874764	1.00[EUR][1000 genomes]
rs72874769	1.00[EUR][1000 genomes]
rs72874781	1.00[EUR][1000 genomes]
rs72874785	1.00[EUR][1000 genomes]
rs72874786	1.00[EUR][1000 genomes]
rs72874791	1.00[EUR][1000 genomes]
rs72874800	1.00[EUR][1000 genomes]
rs72874802	1.00[EUR][1000 genomes]
rs72876204	1.00[EUR][1000 genomes]
rs72876207	1.00[EUR][1000 genomes]
rs72876211	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876229	1.00[EUR][1000 genomes]
rs72876241	1.00[EUR][1000 genomes]
rs72890408	1.00[EUR][1000 genomes]
rs72890416	1.00[EUR][1000 genomes]
rs7673478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95387400-95410000	Weak transcription	NHLF	lung
3	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:95394400-95405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:95394400-95407000	Weak transcription	NH-A	brain
7	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
8	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:95394600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:95396800-95410000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:95398400-95407600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:95398400-95408800	Weak transcription	Brain Substantia Nigra	brain
15	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
16	chr4:95398600-95405800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:95399000-95409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:95400800-95405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:95400800-95440000	Weak transcription	Lung	lung
21	chr4:95401400-95406000	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:95401800-95406400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:95401800-95408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:95402000-95406000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:95402000-95406800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:95402000-95407000	Weak transcription	Psoas Muscle	Psoas
28	chr4:95402000-95407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:95402000-95407600	Weak transcription	Right Ventricle	heart
30	chr4:95402000-95408600	Weak transcription	Right Atrium	heart
31	chr4:95402000-95409000	Weak transcription	NHDF-Ad	bronchial
32	chr4:95402000-95409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:95402000-95409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:95402000-95416800	Weak transcription	Pancreas	Pancrea
35	chr4:95402200-95412000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:95402200-95412200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:95402200-95412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:95403000-95416600	Weak transcription	Left Ventricle	heart
39	chr4:95403800-95417800	Weak transcription	HepG2	liver
40	chr4:95404000-95405800	Weak transcription	Osteobl	bone
41	chr4:95404000-95406800	Weak transcription	Placenta	Placenta
42	chr4:95404000-95407200	Weak transcription	Stomach Mucosa	stomach
43	chr4:95404000-95408600	Weak transcription	Ovary	ovary
44	chr4:95404000-95409800	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:95404000-95415000	Weak transcription	Fetal Intestine Small	intestine
46	chr4:95404400-95412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:95404600-95405800	Enhancers	Fetal Heart	heart
48	chr4:95404800-95406200	Genic enhancers	HUVEC	blood vessel
49	chr4:95404800-95406400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:95405000-95406000	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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