Variant report

Variant	rs73250902
Chromosome Location	chr5:118638289-118638290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118605019..118607417-chr5:118636347..118638717,3	MCF-7	breast:
2	chr5:118625535..118627698-chr5:118638238..118640476,2	MCF-7	breast:
3	chr5:118636247..118638488-chr5:118660209..118662344,2	K562	blood:
4	chr5:118609066..118610745-chr5:118637168..118638991,2	K562	blood:
5	chr5:118628112..118630562-chr5:118637638..118639181,2	K562	blood:
6	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:
7	chr5:118636676..118639200-chr5:118642747..118645465,2	MCF-7	breast:
8	chr5:118603356..118604946-chr5:118636631..118638796,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10452544	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs12109360	1.00[AFR][1000 genomes]
rs17144974	1.00[AMR][1000 genomes]
rs57574427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59473275	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59758980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235244	1.00[AMR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248976	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248988	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252322	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118628000-118641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118635000-118638600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:118635600-118640800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:118635800-118639000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:118635800-118639000	Enhancers	Osteobl	bone
7	chr5:118635800-118640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:118635800-118641000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:118635800-118641400	Enhancers	Thymus	Thymus
10	chr5:118636000-118639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:118636000-118640000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:118636000-118640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:118636000-118641400	Enhancers	NHEK	skin
14	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:118636200-118638800	Enhancers	HepG2	liver
16	chr5:118636200-118639000	Enhancers	Fetal Thymus	thymus
17	chr5:118636200-118640200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:118636400-118638400	Enhancers	K562	blood
20	chr5:118636400-118638600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:118636400-118640800	Enhancers	NHDF-Ad	bronchial
22	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:118636600-118638400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:118636600-118638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:118636600-118638600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:118636600-118638600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:118636600-118641400	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:118636800-118638400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:118636800-118638400	Weak transcription	GM12878-XiMat	blood
31	chr5:118636800-118638600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:118636800-118639000	Weak transcription	Pancreas	Pancrea
33	chr5:118636800-118640000	Enhancers	Primary B cells from cord blood	blood
34	chr5:118636800-118641800	Enhancers	HMEC	breast
35	chr5:118637000-118639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:118637000-118639400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:118637000-118640000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:118637000-118640400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118637000-118640600	Enhancers	HSMM	muscle
40	chr5:118637000-118641200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:118637200-118638800	Enhancers	Primary hematopoietic stem cells	blood
43	chr5:118637200-118641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:118637600-118639600	Flanking Active TSS	A549	lung
45	chr5:118637600-118641000	Enhancers	NH-A	brain
46	chr5:118637800-118639400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:118637800-118639400	Enhancers	HSMMtube	muscle
48	chr5:118637800-118639800	Enhancers	Fetal Heart	heart
49	chr5:118637800-118640000	Enhancers	HUVEC	blood vessel
50	chr5:118637800-118640200	Enhancers	NHLF	lung

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