Variant report

Variant	rs4895366
Chromosome Location	chr5:118653295-118653296
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118647069..118648702-chr5:118653056..118655905,2	K562	blood:
2	chr5:118620088..118622427-chr5:118650333..118654456,3	K562	blood:
3	chr5:118622285..118624506-chr5:118651501..118653957,2	MCF-7	breast:
4	chr5:118642887..118645092-chr5:118652182..118653944,2	K562	blood:
5	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
6	chr5:118620088..118622247-chr5:118651505..118654456,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2112325	0.94[EUR][1000 genomes]
rs7718395	0.84[EUR][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	chr5:118639200-118657200	Weak transcription	Lung	lung
2	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
4	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
9	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
10	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:118646000-118653400	Weak transcription	Spleen	Spleen
13	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:118646200-118653400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:118649200-118656200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
21	chr5:118650000-118655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:118650200-118655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:118650200-118657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:118650200-118657600	Weak transcription	Aorta	Aorta
26	chr5:118650400-118655000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:118651400-118653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:118651400-118654000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:118651400-118654800	Enhancers	Primary B cells from cord blood	blood
30	chr5:118651400-118657600	Weak transcription	Fetal Lung	lung
31	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
32	chr5:118651600-118653800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:118651600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:118651600-118657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:118651600-118657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:118651600-118657200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:118651800-118653600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:118651800-118653800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:118651800-118653800	Weak transcription	HMEC	breast
40	chr5:118651800-118653800	Weak transcription	NHEK	skin
41	chr5:118651800-118654000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:118651800-118657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:118651800-118657000	Weak transcription	Adipose Nuclei	Adipose
44	chr5:118651800-118657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:118651800-118658400	Weak transcription	NHLF	lung
46	chr5:118651800-118660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:118652000-118653600	Weak transcription	HepG2	liver
48	chr5:118652000-118655200	Enhancers	Primary T cells from cord blood	blood
49	chr5:118652000-118656000	Weak transcription	Hela-S3	cervix
50	chr5:118652000-118657200	Weak transcription	Osteobl	bone

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