Variant report

Variant	rs72994586
Chromosome Location	chr4:174102754-174102755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174102486..174104486-chr4:174109013..174111128,2	K562	blood:
2	chr4:174089462..174093511-chr4:174101322..174108928,6	MCF-7	breast:
3	chr4:174088382..174092255-chr4:174100174..174103492,6	MCF-7	breast:
4	chr4:174102044..174104831-chr4:174106302..174107893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13123359	0.91[ASN][1000 genomes]
rs17059189	1.00[AMR][1000 genomes]
rs17059268	0.83[ASN][1000 genomes]
rs55661507	0.91[ASN][1000 genomes]
rs57130388	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57410315	0.88[ASN][1000 genomes]
rs57476920	0.95[ASN][1000 genomes]
rs57572680	0.83[ASN][1000 genomes]
rs57715340	1.00[ASN][1000 genomes]
rs59926654	0.83[ASN][1000 genomes]
rs60050553	0.87[ASN][1000 genomes]
rs60388714	1.00[ASN][1000 genomes]
rs60612649	0.88[ASN][1000 genomes]
rs60699343	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6834063	0.83[ASN][1000 genomes]
rs6839839	0.88[ASN][1000 genomes]
rs72993766	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72993775	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72993786	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72993793	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72994533	1.00[AMR][1000 genomes]
rs72994540	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994569	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72994571	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72994573	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72994575	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72994583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72994588	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72995610	1.00[ASN][1000 genomes]
rs72995612	1.00[ASN][1000 genomes]
rs72999528	0.91[ASN][1000 genomes]
rs72999537	0.88[ASN][1000 genomes]
rs72999541	0.83[ASN][1000 genomes]
rs73001546	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174091800-174104000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:174092800-174103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:174092800-174103600	Weak transcription	Aorta	Aorta
5	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:174093600-174109800	Weak transcription	Gastric	stomach
8	chr4:174093800-174105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:174094200-174102800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:174095400-174102800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:174096200-174103200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:174096200-174111200	Weak transcription	Small Intestine	intestine
14	chr4:174096800-174103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:174098000-174104200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:174098000-174106400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:174098600-174106200	Weak transcription	Fetal Thymus	thymus
18	chr4:174098800-174103800	Weak transcription	Thymus	Thymus
19	chr4:174098800-174104600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:174098800-174108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:174099000-174106200	Weak transcription	Dnd41	blood
22	chr4:174099000-174109400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:174099200-174111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:174099600-174102800	Enhancers	A549	lung
25	chr4:174099800-174106000	Weak transcription	K562	blood
26	chr4:174100000-174102800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:174100000-174112200	Weak transcription	Brain Substantia Nigra	brain
28	chr4:174100200-174103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:174100400-174103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:174100400-174104200	Enhancers	Hela-S3	cervix
31	chr4:174100600-174103200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:174100800-174102800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:174100800-174102800	Weak transcription	GM12878-XiMat	blood
34	chr4:174101000-174102800	Weak transcription	NHEK	skin
35	chr4:174101000-174104600	Enhancers	HSMM	muscle
36	chr4:174101000-174106600	Weak transcription	Primary B cells from cord blood	blood
37	chr4:174101200-174106000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:174101400-174102800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:174101400-174102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:174101600-174103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:174101800-174103600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr4:174101800-174104000	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:174101800-174104600	Enhancers	Stomach Mucosa	stomach
44	chr4:174102000-174103000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:174102000-174103200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:174102000-174103200	Enhancers	Fetal Intestine Small	intestine
47	chr4:174102000-174104600	Enhancers	NHDF-Ad	bronchial
48	chr4:174102000-174106400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:174102200-174102800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:174102200-174102800	Enhancers	Osteobl	bone

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