Variant report

Variant	rs4487475
Chromosome Location	chr5:74339620-74339621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
2	chr5:74330454..74335475-chr5:74336350..74340630,5	MCF-7	breast:
3	chr5:74332922..74335648-chr5:74338677..74341293,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCNT4-2	chr5:74339379-74339914	NONHSAT102193

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4504370	0.92[EUR][1000 genomes]
rs4551046	0.90[EUR][1000 genomes]
rs4593249	0.90[EUR][1000 genomes]
rs56778680	0.97[EUR][1000 genomes]
rs57127117	0.92[EUR][1000 genomes]
rs59346405	0.90[EUR][1000 genomes]
rs59384623	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6869217	0.85[EUR][1000 genomes]
rs73110977	0.92[EUR][1000 genomes]
rs73110980	0.92[EUR][1000 genomes]
rs73110999	0.92[EUR][1000 genomes]
rs73112721	0.97[EUR][1000 genomes]
rs73765654	0.99[EUR][1000 genomes]
rs7721887	0.92[EUR][1000 genomes]
rs7731533	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv275446	chr5:74339574-74345369	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74317600-74344200	Weak transcription	Ovary	ovary
3	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:74330000-74339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:74330400-74340400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:74330400-74341800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:74330600-74341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:74330600-74342600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:74330600-74345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:74331400-74345400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:74331600-74339800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:74331600-74344000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:74332600-74340400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:74332600-74343200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:74333200-74339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:74333200-74339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:74333200-74344000	Weak transcription	Osteobl	bone
25	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:74333400-74343800	Weak transcription	NH-A	brain
27	chr5:74333400-74344000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:74333400-74344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:74334200-74340200	Strong transcription	Primary T cells from cord blood	blood
30	chr5:74334200-74344000	Weak transcription	Stomach Mucosa	stomach
31	chr5:74334600-74339800	Weak transcription	Aorta	Aorta
32	chr5:74334800-74339800	Weak transcription	Pancreas	Pancrea
33	chr5:74335000-74340400	Strong transcription	Fetal Thymus	thymus
34	chr5:74335200-74339800	Weak transcription	Fetal Intestine Small	intestine
35	chr5:74335400-74340200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:74335600-74341400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:74335800-74340400	Strong transcription	Thymus	Thymus
38	chr5:74336400-74340000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:74336600-74345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:74337000-74342200	Strong transcription	Fetal Intestine Large	intestine
41	chr5:74337000-74343800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr5:74337200-74339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:74337200-74340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:74337200-74344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:74337200-74344200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:74337400-74339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:74337400-74339800	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:74337600-74340200	Weak transcription	NHLF	lung
49	chr5:74337600-74341800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart

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