Variant report

Variant	rs72876229
Chromosome Location	chr4:95415083-95415084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95413064..95415456-chr4:95417034..95419841,2	K562	blood:
2	chr4:95375609..95377732-chr4:95414007..95416782,2	K562	blood:

Variant related genes	Relation type
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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932136	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932224	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933735	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935012	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935039	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935084	0.81[AMR][1000 genomes]
rs11935947	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938329	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938449	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940613	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941259	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941353	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942920	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946663	1.00[EUR][1000 genomes]
rs56827347	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528979	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845473	1.00[EUR][1000 genomes]
rs72874705	1.00[EUR][1000 genomes]
rs72874730	1.00[EUR][1000 genomes]
rs72874733	1.00[EUR][1000 genomes]
rs72874739	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874745	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874752	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874760	1.00[EUR][1000 genomes]
rs72874763	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874764	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874769	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874781	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874785	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874786	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874791	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874800	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874802	1.00[EUR][1000 genomes]
rs72876204	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876207	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876211	1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876217	1.00[EUR][1000 genomes]
rs72876219	0.81[AMR][1000 genomes];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[EUR][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:63 , 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	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
7	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:95400800-95440000	Weak transcription	Lung	lung
9	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95402000-95416800	Weak transcription	Pancreas	Pancrea
11	chr4:95403000-95416600	Weak transcription	Left Ventricle	heart
12	chr4:95403800-95417800	Weak transcription	HepG2	liver
13	chr4:95405000-95429000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:95406000-95419800	Weak transcription	GM12878-XiMat	blood
15	chr4:95407200-95428000	Weak transcription	Placenta	Placenta
16	chr4:95408000-95428000	Weak transcription	K562	blood
17	chr4:95408200-95422000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:95409000-95422000	Weak transcription	Ovary	ovary
19	chr4:95409400-95419000	Weak transcription	Aorta	Aorta
20	chr4:95410200-95416000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:95410200-95422000	Weak transcription	Right Atrium	heart
22	chr4:95410400-95415200	Weak transcription	Psoas Muscle	Psoas
23	chr4:95410600-95415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:95411000-95427800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:95412200-95416200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:95412400-95416600	Weak transcription	Right Ventricle	heart
27	chr4:95412400-95422000	Weak transcription	Liver	Liver
28	chr4:95412400-95424600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:95412800-95426000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:95412800-95428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:95413000-95426200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:95413200-95417800	Weak transcription	Stomach Mucosa	stomach
33	chr4:95413200-95418200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:95413200-95427400	Weak transcription	A549	lung
35	chr4:95413200-95428000	Weak transcription	Hela-S3	cervix
36	chr4:95413400-95419200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:95413400-95425800	Weak transcription	HSMMtube	muscle
38	chr4:95413400-95428000	Weak transcription	NH-A	brain
39	chr4:95413400-95428400	Weak transcription	NHLF	lung
40	chr4:95413600-95415400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:95413600-95416600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:95413600-95418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:95413600-95418200	Weak transcription	NHEK	skin
44	chr4:95413600-95421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:95413600-95425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:95413800-95415200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:95413800-95415600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:95413800-95416400	Weak transcription	Fetal Heart	heart
49	chr4:95413800-95417200	Strong transcription	HSMM	muscle
50	chr4:95413800-95417600	Strong transcription	Osteobl	bone

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