Variant report

Variant	rs2242994
Chromosome Location	chr5:76115553-76115554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76115218..76117725-chr5:76325993..76327834,2	MCF-7	breast:
2	chr5:76113078..76116046-chr5:76145704..76148210,2	K562	blood:
3	chr5:76115175..76117196-chr5:76160540..76162682,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171643	Chromatin interaction
ENSG00000164252	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2242987	1.00[AMR][1000 genomes]
rs2242996	1.00[AMR][1000 genomes]
rs2243011	1.00[AMR][1000 genomes]
rs2243013	1.00[AMR][1000 genomes]
rs2243038	1.00[AMR][1000 genomes]
rs2243061	1.00[AMR][1000 genomes]
rs2243062	1.00[AMR][1000 genomes]
rs2243063	1.00[AMR][1000 genomes]
rs2243069	1.00[AMR][1000 genomes]
rs7714226	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1031491	chr5:76083382-76129241	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv598683	chr5:76086597-76129053	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022431	chr5:76086795-76127170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1020397	chr5:76086795-76129241	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv598684	chr5:76086795-76130113	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1025061	chr5:76087544-76129241	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1033086	chr5:76088861-76129241	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1021460	chr5:76089512-76129241	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1018194	chr5:76090951-76129241	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv598685	chr5:76092225-76128521	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv882211	chr5:76100536-76125577	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76114000-76116000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:76114000-76116200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:76114000-76117000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:76114200-76116000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
5	chr5:76114200-76116000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:76114200-76116200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:76114200-76116400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr5:76114200-76116800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:76114200-76116800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:76114200-76117000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:76114200-76117400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:76114400-76115600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:76114400-76115600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:76114400-76115600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
15	chr5:76114400-76115600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
16	chr5:76114400-76115800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
18	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr5:76114400-76116000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:76114400-76116000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:76114400-76116000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr5:76114400-76116200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:76114400-76116200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:76114400-76116200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:76114400-76116200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr5:76114400-76116200	Active TSS	Gastric	stomach
28	chr5:76114400-76116400	Flanking Active TSS	Liver	Liver
29	chr5:76114400-76117000	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr5:76114600-76115600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr5:76114600-76115600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:76114600-76115600	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr5:76114600-76115800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:76114600-76115800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:76114600-76115800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr5:76114600-76115800	Active TSS	Psoas Muscle	Psoas
37	chr5:76114600-76115800	Active TSS	HUVEC	blood vessel
38	chr5:76114600-76115800	Active TSS	NHLF	lung
39	chr5:76114600-76116000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr5:76114600-76116000	Active TSS	Aorta	Aorta
41	chr5:76114600-76116000	Active TSS	Brain Anterior Caudate	brain
42	chr5:76114600-76116000	Active TSS	Pancreas	Pancrea
43	chr5:76114600-76116000	Active TSS	HepG2	liver
44	chr5:76114600-76116200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:76114600-76116200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr5:76114600-76116200	Bivalent/Poised TSS	Stomach Mucosa	stomach
47	chr5:76114600-76116600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:76114600-76116600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:76114600-76116600	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr5:76114600-76116600	Active TSS	NHEK	skin

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