Variant report

Variant	rs72874781
Chromosome Location	chr4:95384200-95384201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95382790..95385673-chr4:95467254..95469616,3	K562	blood:
2	chr4:95380200..95382308-chr4:95382568..95385131,2	MCF-7	breast:
3	chr4:95378587..95381661-chr4:95382526..95385880,5	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11097429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11097430	0.91[AMR][1000 genomes]
rs11932136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935039	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935084	1.00[AMR][1000 genomes]
rs11935947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939756	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941259	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941353	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56827347	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528979	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845473	0.91[AMR][1000 genomes];1.00[EUR][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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874752	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874802	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876207	1.00[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	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876229	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:95374200-95388600	Weak transcription	Gastric	stomach
3	chr4:95374200-95389200	Weak transcription	Lung	lung
4	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:95374600-95388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95374800-95385200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
9	chr4:95375000-95387600	Weak transcription	Fetal Stomach	stomach
10	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
11	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:95376000-95385000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:95376600-95392000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:95378800-95384200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:95378800-95391200	Weak transcription	Placenta	Placenta
16	chr4:95379200-95385000	Weak transcription	NHLF	lung
17	chr4:95379200-95386800	Weak transcription	Pancreas	Pancrea
18	chr4:95379200-95389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:95379200-95389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:95379200-95391000	Enhancers	Liver	Liver
21	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:95379800-95385000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:95380200-95385000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
25	chr4:95380400-95384800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:95380400-95387200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:95381000-95387200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:95381000-95388200	Weak transcription	Stomach Mucosa	stomach
30	chr4:95381200-95384200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:95381200-95385000	Weak transcription	Brain Angular Gyrus	brain
32	chr4:95381200-95385000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:95381200-95385200	Weak transcription	HSMM	muscle
34	chr4:95381200-95385400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:95381200-95387600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:95381200-95389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:95381200-95391400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:95381600-95393000	Weak transcription	NH-A	brain
40	chr4:95381800-95384200	Weak transcription	Ovary	ovary
41	chr4:95381800-95384600	Weak transcription	Aorta	Aorta
42	chr4:95381800-95386200	Enhancers	HepG2	liver
43	chr4:95381800-95386600	Weak transcription	Left Ventricle	heart
44	chr4:95381800-95387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:95381800-95390000	Weak transcription	K562	blood
46	chr4:95382200-95385800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:95382400-95384600	Weak transcription	Right Atrium	heart
48	chr4:95382400-95384800	Weak transcription	Brain Substantia Nigra	brain
49	chr4:95382600-95384200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:95382600-95384600	Enhancers	Skeletal Muscle Female	skeletal muscle

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