Variant report

Variant	rs72874802
Chromosome Location	chr4:95393311-95393312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95392600..95395263-chr4:95399484..95402281,2	K562	blood:
2	chr4:95370572..95375006-chr4:95392814..95398677,7	K562	blood:
3	chr4:95391486..95396177-chr4:95398178..95402962,4	K562	blood:
4	chr4:95371844..95375246-chr4:95391299..95394379,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCAD1-3	chr4:95393277-95393520	expReg_chr4_4913_+

Variant related genes	Relation type
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	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932136	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932224	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933735	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935012	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935039	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935084	0.84[AMR][1000 genomes]
rs11935947	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938329	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938449	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939756	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940613	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941259	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941353	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942920	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946663	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56827347	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528979	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845473	0.92[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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874752	1.00[EUR][1000 genomes]
rs72874760	1.00[EUR][1000 genomes]
rs72874763	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874764	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874769	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874781	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874785	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874786	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874791	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874800	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876204	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876207	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876211	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876217	1.00[EUR][1000 genomes]
rs72876219	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	0.98[AFR][1000 genomes];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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
4	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
8	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:95383000-95395800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:95383000-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:95383000-95396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:95384200-95393600	Weak transcription	Hela-S3	cervix
14	chr4:95387400-95410000	Weak transcription	NHLF	lung
15	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:95389600-95393400	Weak transcription	Stomach Mucosa	stomach
17	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:95389800-95393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:95389800-95393600	Weak transcription	Aorta	Aorta
20	chr4:95390200-95393400	Weak transcription	HMEC	breast
21	chr4:95390200-95393600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:95390600-95393400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:95390600-95393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:95390600-95393400	Weak transcription	Adipose Nuclei	Adipose
25	chr4:95390800-95393400	Weak transcription	Right Ventricle	heart
26	chr4:95390800-95393400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:95390800-95393600	Weak transcription	Brain Anterior Caudate	brain
28	chr4:95390800-95393600	Weak transcription	Right Atrium	heart
29	chr4:95390800-95393600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:95390800-95395800	Weak transcription	Ovary	ovary
31	chr4:95390800-95397000	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:95390800-95397800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:95390800-95398200	Weak transcription	Gastric	stomach
34	chr4:95391400-95393400	Weak transcription	Left Ventricle	heart
35	chr4:95391400-95394000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:95391400-95394200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:95391400-95394600	Weak transcription	Pancreas	Pancrea
38	chr4:95392000-95394400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:95392200-95393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:95392200-95393600	Enhancers	Fetal Heart	heart
41	chr4:95392200-95395000	Enhancers	HUVEC	blood vessel
42	chr4:95392200-95395000	Enhancers	Osteobl	bone
43	chr4:95392200-95395800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:95392400-95393400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:95392400-95393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:95392400-95393600	Weak transcription	Psoas Muscle	Psoas
47	chr4:95392400-95393600	Weak transcription	K562	blood
48	chr4:95392400-95395800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:95392600-95394400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:95392600-95399200	Enhancers	Liver	Liver

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