Variant report

Variant	rs553882068
Chromosome Location	chr3:138067246-138067247
allele	A/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	CTCF	chr3:138067160-138067310	NHLF	lung:	n/a	chr3:138067224-138067237
2	MAX	chr3:138066801-138067798	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr3:138067060-138067766	K562	blood:	n/a	chr3:138067638-138067646
4	CTCF	chr3:138067120-138067270	K562	blood:	n/a	chr3:138067224-138067237
5	CTCF	chr3:138067120-138067270	GM12871	blood:	n/a	chr3:138067224-138067237
6	TBP	chr3:138066835-138067785	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr3:138066896-138067253	ECC-1	luminal epithelium:	n/a	n/a
8	KAP1	chr3:138066846-138067365	HEK293	kidney:	n/a	n/a
9	POLR2A	chr3:138066918-138067842	Gliobla	brain:	n/a	n/a
10	CTCF	chr3:138067120-138067270	AG10803	skin:	n/a	chr3:138067224-138067237
11	CTCF	chr3:138066959-138067457	H1-hESC	embryonic stem cell:	n/a	chr3:138067224-138067237
12	CTCF	chr3:138066992-138067398	H1-hESC	embryonic stem cell:	n/a	chr3:138067224-138067237
13	POLR2A	chr3:138066806-138067760	A549	lung:	n/a	n/a
14	POLR2A	chr3:138066671-138067263	U87	brain:	n/a	n/a
15	TCF12	chr3:138066726-138067269	A549	lung:	n/a	n/a
16	CTCF	chr3:138067136-138067331	Medullo	brain:	n/a	chr3:138067224-138067237
17	RAD21	chr3:138066985-138067402	H1-hESC	embryonic stem cell:	n/a	chr3:138067205-138067219
18	CTCF	chr3:138067160-138067310	Caco-2	colon:	n/a	chr3:138067224-138067237
19	UBTF	chr3:138066855-138067768	K562	blood:	n/a	n/a
20	CTCF	chr3:138067180-138067330	GM12871	blood:	n/a	chr3:138067224-138067237
21	CTCF	chr3:138067120-138067270	HMF	breast:	n/a	chr3:138067224-138067237
22	RAD21	chr3:138066906-138067422	SK-N-SH_RA	brain:	n/a	chr3:138067205-138067219
23	POLR2A	chr3:138066572-138067866	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr3:138067100-138067250	BJ	skin:	n/a	chr3:138067224-138067237
25	CTCF	chr3:138067092-138067309	K562	blood:	n/a	chr3:138067224-138067237
26	CTCF	chr3:138067126-138067305	GM12891	blood:	n/a	chr3:138067224-138067237
27	E2F6	chr3:138066585-138067720	H1-hESC	embryonic stem cell:	n/a	chr3:138067683-138067695 chr3:138067433-138067442 chr3:138067648-138067657 chr3:138067178-138067190
28	CTCF	chr3:138067140-138067290	NHDF-neo	bronchial:	n/a	chr3:138067224-138067237
29	TBP	chr3:138067071-138067517	K562	blood:	n/a	n/a
30	CTCF	chr3:138067164-138067271	GM12878	blood:	n/a	chr3:138067224-138067237
31	CTCF	chr3:138067195-138067292	GM20000	blood:	n/a	chr3:138067224-138067237
32	POLR2A	chr3:138067026-138067334	SK-N-SH	brain:	n/a	n/a
33	TAF1	chr3:138067064-138067779	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr3:138067142-138067312	HepG2	liver:	n/a	chr3:138067224-138067237
35	CTCF	chr3:138067155-138067319	Hela-S3	cervix:	n/a	chr3:138067224-138067237
36	CTCF	chr3:138067160-138067310	HRPEpiC	eye:	n/a	chr3:138067224-138067237
37	MAZ	chr3:138066829-138067844	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr3:138067134-138067316	GM19238	blood:	n/a	chr3:138067224-138067237
39	E2F6	chr3:138067081-138067773	K562	blood:	n/a	chr3:138067683-138067695 chr3:138067433-138067442 chr3:138067648-138067657 chr3:138067178-138067190
40	POLR2A	chr3:138066823-138067879	HUVEC	blood vessel:	n/a	n/a
41	ZNF143	chr3:138066932-138067783	H1-hESC	embryonic stem cell:	n/a	chr3:138067280-138067298 chr3:138067591-138067601
42	POLR2A	chr3:138066591-138067894	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr3:138067140-138067290	HVMF	connective:	n/a	chr3:138067224-138067237
44	MAX	chr3:138066719-138067893	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr3:138067147-138067332	MCF-7	breast:	n/a	chr3:138067224-138067237
46	RAD21	chr3:138067047-138067395	HepG2	liver:	n/a	chr3:138067205-138067219
47	MYC	chr3:138067112-138067729	K562	blood:	n/a	n/a
48	MAX	chr3:138066844-138067619	K562	blood:	n/a	n/a
49	CTCF	chr3:138067140-138067290	HPAF	blood vessel:	n/a	chr3:138067224-138067237
50	NANOG	chr3:138067211-138067462	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138065940..138068792-chr3:138150528..138153476,2	K562	blood:
2	chr3:138047684..138048542-chr3:138066905..138067491,2	MCF-7	breast:
3	chr3:138045780..138048564-chr3:138065051..138067433,2	K562	blood:
4	chr3:138042389..138044114-chr3:138065779..138068075,2	K562	blood:

Variant related genes	Relation type
MRAS	TF binding region
ENSG00000158220	Chromatin interaction
ENSG00000181322	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3409942	chr3:138066287-138068835	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3340290	chr3:138066687-138069235	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138066000-138067800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr3:138066000-138068000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:138066000-138068000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:138066000-138068000	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:138066000-138068400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:138066200-138068000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr3:138066200-138068000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:138066200-138068000	Active TSS	Fetal Lung	lung
9	chr3:138066200-138068000	Active TSS	NHDF-Ad	bronchial
10	chr3:138066200-138068200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:138066200-138068200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:138066200-138068200	Active TSS	Brain Angular Gyrus	brain
13	chr3:138066200-138068200	Active TSS	Brain Anterior Caudate	brain
14	chr3:138066200-138068200	Active TSS	Brain Cingulate Gyrus	brain
15	chr3:138066200-138068200	Active TSS	Brain Substantia Nigra	brain
16	chr3:138066200-138068200	Active TSS	Fetal Brain Female	brain
17	chr3:138066200-138068400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:138066200-138068400	Active TSS	A549	lung
19	chr3:138066200-138068600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:138066200-138069200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:138066200-138069200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:138066400-138067400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr3:138066400-138067400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:138066400-138067800	Active TSS	Colonic Mucosa	Colon
25	chr3:138066400-138068000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr3:138066400-138068000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:138066400-138068000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr3:138066400-138068000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:138066400-138068000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr3:138066400-138068000	Active TSS	Brain Germinal Matrix	brain
31	chr3:138066400-138068000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr3:138066400-138068000	Active TSS	NH-A	brain
33	chr3:138066400-138068000	Active TSS	NHEK	skin
34	chr3:138066400-138068200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:138066400-138068200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:138066400-138068200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr3:138066400-138068200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr3:138066400-138068200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:138066400-138068200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:138066400-138068200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:138066400-138068200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:138066400-138068200	Active TSS	Psoas Muscle	Psoas
43	chr3:138066400-138068200	Active TSS	Rectal Smooth Muscle	rectum
44	chr3:138066400-138068400	Active TSS	Colon Smooth Muscle	Colon
45	chr3:138066400-138068400	Active TSS	Osteobl	bone
46	chr3:138066400-138068600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr3:138066400-138068800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:138066400-138068800	Active TSS	Duodenum Mucosa	Duodenum
49	chr3:138066400-138069800	Active TSS	Right Atrium	heart
50	chr3:138066400-138070000	Active TSS	HSMM	muscle

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