Variant report

Variant	rs57479499
Chromosome Location	chr3:138117149-138117150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:138116774-138117204	A549	lung:	n/a	chr3:138116947-138116966 chr3:138117117-138117131
2	RAD21	chr3:138116714-138117274	HCT-116	colon:	n/a	chr3:138116947-138116966 chr3:138117117-138117131
3	CTCF	chr3:138116755-138117231	MCF-7	breast:	n/a	chr3:138116949-138116967
4	CTCF	chr3:138116709-138117275	HCT-116	colon:	n/a	chr3:138116949-138116967
5	RAD21	chr3:138116727-138117167	MCF-7	breast:	n/a	chr3:138116947-138116966 chr3:138117117-138117131
6	SMC3	chr3:138116613-138117167	SK-N-SH	brain:	n/a	chr3:138116951-138116965
7	RAD21	chr3:138116745-138117183	A549	lung:	n/a	chr3:138116947-138116966 chr3:138117117-138117131
8	RAD21	chr3:138116775-138117213	HCT-116	colon:	n/a	chr3:138116947-138116966 chr3:138117117-138117131
9	RAD21	chr3:138116702-138117186	MCF-7	breast:	n/a	chr3:138116947-138116966 chr3:138117117-138117131
10	CTCF	chr3:138117140-138117290	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138050301..138052204-chr3:138116487..138117341,9	MCF-7	breast:

Variant related genes	Relation type
MRAS	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59498832	0.85[AMR][1000 genomes]
rs60025224	0.85[AMR][1000 genomes]
rs60439783	0.85[AMR][1000 genomes]
rs6790121	0.85[AMR][1000 genomes]
rs7625278	0.85[AMR][1000 genomes]
rs7626679	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription 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
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv526089	chr3:138106698-138122781	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138090400-138119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:138101400-138123000	Weak transcription	Fetal Lung	lung
3	chr3:138101600-138120400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:138109200-138119600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:138109400-138119600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:138109600-138117200	Weak transcription	Pancreas	Pancrea
7	chr3:138109600-138120600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:138109600-138123000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:138109600-138124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:138109800-138117200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:138109800-138118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:138109800-138119600	Weak transcription	Placenta	Placenta
13	chr3:138109800-138123000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:138109800-138124800	Weak transcription	NHLF	lung
15	chr3:138109800-138131400	Weak transcription	NHDF-Ad	bronchial
16	chr3:138110200-138117200	Weak transcription	Osteobl	bone
17	chr3:138110200-138120200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:138110200-138121400	Weak transcription	NH-A	brain
19	chr3:138113000-138118000	Enhancers	Fetal Heart	heart
20	chr3:138113000-138118600	Strong transcription	HSMMtube	muscle
21	chr3:138113400-138117200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:138114000-138126200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:138114800-138124600	Strong transcription	Fetal Stomach	stomach
24	chr3:138115000-138118000	Weak transcription	Spleen	Spleen
25	chr3:138115200-138120000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:138115200-138121000	Weak transcription	Brain Angular Gyrus	brain
27	chr3:138115400-138117200	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:138115400-138117200	Weak transcription	Lung	lung
29	chr3:138115400-138122600	Weak transcription	Colonic Mucosa	Colon
30	chr3:138115600-138117200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:138115600-138119000	Genic enhancers	Right Ventricle	heart
32	chr3:138115600-138120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:138115600-138120600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:138115800-138118000	Strong transcription	Gastric	stomach
35	chr3:138115800-138119200	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:138115800-138120400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:138115800-138125200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:138116000-138117800	Weak transcription	Ovary	ovary
39	chr3:138116000-138120200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:138116000-138120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:138116000-138124600	Strong transcription	Aorta	Aorta
42	chr3:138116000-138125200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:138116000-138125200	Strong transcription	HSMM	muscle
44	chr3:138116000-138125800	Strong transcription	Fetal Brain Female	brain
45	chr3:138116000-138127000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:138116200-138120000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:138116200-138120800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:138116200-138121000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:138116200-138123200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr3:138116200-138125000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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