Variant report

Variant	rs60223842
Chromosome Location	chr5:74342387-74342388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74334981..74336782-chr5:74342190..74344248,2	MCF-7	breast:
2	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:
3	chr5:74315578..74317119-chr5:74341476..74343130,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61207691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122601	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125245	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125254	1.00[ASN][1000 genomes]
rs7730062	1.00[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74317600-74344200	Weak transcription	Ovary	ovary
2	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:74330600-74342600	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:74330600-74345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:74331400-74345400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:74331600-74344000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:74332600-74343200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:74333200-74344000	Weak transcription	Osteobl	bone
16	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:74333400-74343800	Weak transcription	NH-A	brain
18	chr5:74333400-74344000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:74333400-74344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:74334200-74344000	Weak transcription	Stomach Mucosa	stomach
21	chr5:74336600-74345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:74337000-74343800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr5:74337200-74344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:74337200-74344200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
26	chr5:74338000-74342600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:74338200-74342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:74338400-74343800	Weak transcription	Fetal Brain Female	brain
29	chr5:74338600-74343800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:74338600-74348000	Weak transcription	Psoas Muscle	Psoas
31	chr5:74339000-74347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:74339200-74342600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:74339200-74343600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr5:74339200-74345400	Weak transcription	Colonic Mucosa	Colon
35	chr5:74339400-74342800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:74339600-74342800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:74339600-74342800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:74339800-74342400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr5:74340000-74343600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:74340200-74346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:74340400-74342400	Genic enhancers	Fetal Thymus	thymus
42	chr5:74340400-74342400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr5:74340400-74342400	Weak transcription	HepG2	liver
44	chr5:74340600-74342600	Weak transcription	Fetal Intestine Small	intestine
45	chr5:74340600-74343000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:74340600-74343400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr5:74340600-74343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:74340600-74343600	Weak transcription	Brain Angular Gyrus	brain
49	chr5:74340600-74343800	Weak transcription	Brain Anterior Caudate	brain
50	chr5:74340600-74343800	Weak transcription	Brain Hippocampus Middle	brain

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