Variant report

Variant	rs60270388
Chromosome Location	chr5:41834506-41834507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57365158	1.00[AMR][1000 genomes]
rs57472589	1.00[AMR][1000 genomes]
rs57886651	1.00[AMR][1000 genomes]
rs715469	1.00[AMR][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	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:41795400-41835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:41800800-41838600	Weak transcription	Fetal Stomach	stomach
4	chr5:41801000-41835800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:41801000-41849200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:41801200-41849200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:41801200-41849200	Weak transcription	Fetal Brain Male	brain
8	chr5:41809800-41836200	Weak transcription	Right Ventricle	heart
9	chr5:41814000-41842200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:41816200-41838600	Weak transcription	NHEK	skin
11	chr5:41817000-41836000	Weak transcription	Aorta	Aorta
12	chr5:41818400-41852000	Weak transcription	Small Intestine	intestine
13	chr5:41819200-41852800	Weak transcription	Pancreas	Pancrea
14	chr5:41822600-41836000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:41822600-41836000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:41822600-41849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:41824400-41835800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:41824600-41835800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:41824600-41859400	Weak transcription	Spleen	Spleen
20	chr5:41825800-41835800	Weak transcription	Brain Substantia Nigra	brain
21	chr5:41825800-41849200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:41826600-41835600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:41827800-41849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:41828200-41836000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:41828600-41849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:41828800-41849000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:41829000-41835800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:41829000-41838800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:41829200-41834800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:41829400-41851000	Weak transcription	Fetal Intestine Small	intestine
31	chr5:41830000-41843400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:41830200-41836000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:41830400-41834600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:41830600-41836000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:41830800-41849200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:41830800-41849800	Weak transcription	Gastric	stomach
37	chr5:41831200-41838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:41831200-41849200	Weak transcription	Brain Germinal Matrix	brain
39	chr5:41831200-41854400	Weak transcription	Colonic Mucosa	Colon
40	chr5:41831400-41849200	Weak transcription	Placenta	Placenta
41	chr5:41831600-41834600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr5:41831800-41838400	Weak transcription	GM12878-XiMat	blood
43	chr5:41832000-41835000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:41832000-41836000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:41832000-41836000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:41832000-41836600	Enhancers	HUVEC	blood vessel
47	chr5:41832200-41835400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:41832200-41835400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:41832200-41835400	Weak transcription	NHDF-Ad	bronchial
50	chr5:41832200-41835800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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