Variant report

Variant	rs73235244
Chromosome Location	chr5:118652863-118652864
allele	C/T
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	chr5:118620088..118622427-chr5:118650333..118654456,3	K562	blood:
2	chr5:118622285..118624506-chr5:118651501..118653957,2	MCF-7	breast:
3	chr5:118642887..118645092-chr5:118652182..118653944,2	K562	blood:
4	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
5	chr5:118650777..118652964-chr5:118653732..118655303,2	K562	blood:
6	chr5:118651481..118653005-chr5:118654205..118657121,2	MCF-7	breast:
7	chr5:118651201..118652914-chr5:118746753..118748686,2	K562	blood:
8	chr5:118620088..118622247-chr5:118651505..118654456,2	K562	blood:

No data

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10452544	1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs17144974	1.00[AMR][1000 genomes]
rs57574427	1.00[AMR][1000 genomes]
rs59344448	1.00[AMR][1000 genomes]
rs59473275	1.00[AMR][1000 genomes]
rs59758980	1.00[AMR][1000 genomes]
rs73235231	1.00[AMR][1000 genomes]
rs73235281	0.92[AFR][1000 genomes]
rs73235286	0.92[AFR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	1.00[AMR][1000 genomes]
rs73248974	1.00[AMR][1000 genomes]
rs73248976	1.00[AMR][1000 genomes]
rs73248978	1.00[AMR][1000 genomes]
rs73248981	1.00[AMR][1000 genomes]
rs73248988	1.00[AMR][1000 genomes]
rs73248995	1.00[AMR][1000 genomes]
rs73250803	1.00[AMR][1000 genomes]
rs73250806	1.00[AMR][1000 genomes]
rs73250810	1.00[AMR][1000 genomes]
rs73250902	1.00[AMR][1000 genomes]
rs73252305	1.00[AMR][1000 genomes]
rs73252308	1.00[AMR][1000 genomes]
rs73252311	1.00[AMR][1000 genomes]
rs73252320	1.00[AMR][1000 genomes]
rs73252322	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:118639200-118657200	Weak transcription	Lung	lung
3	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
5	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
10	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
11	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:118645800-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:118646000-118653400	Weak transcription	Spleen	Spleen
15	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:118646200-118653400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:118648000-118653000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:118649200-118656200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
24	chr5:118650000-118655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:118650200-118655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:118650200-118657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:118650200-118657600	Weak transcription	Aorta	Aorta
29	chr5:118650400-118655000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:118650600-118653000	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:118651200-118653000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:118651400-118653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:118651400-118654000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:118651400-118654800	Enhancers	Primary B cells from cord blood	blood
35	chr5:118651400-118657600	Weak transcription	Fetal Lung	lung
36	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
37	chr5:118651600-118653800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:118651600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118651600-118657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:118651600-118657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:118651600-118657200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:118651800-118653000	Enhancers	Thymus	Thymus
43	chr5:118651800-118653600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:118651800-118653800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:118651800-118653800	Weak transcription	HMEC	breast
46	chr5:118651800-118653800	Weak transcription	NHEK	skin
47	chr5:118651800-118654000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:118651800-118657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:118651800-118657000	Weak transcription	Adipose Nuclei	Adipose
50	chr5:118651800-118657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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