Variant report

Variant	rs73853489
Chromosome Location	chr3:81811415-81811416
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	POLR2A	chr3:81809125-81813460	GM12878	blood:	n/a	n/a
2	CTCF	chr3:81811320-81811470	GM12872	blood:	n/a	n/a
3	POLR2A	chr3:81810037-81811836	GM12891	blood:	n/a	n/a
4	POLR2A	chr3:81808346-81811725	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr3:81809344-81811509	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:81809537-81811503	NB4	blood:	n/a	n/a
7	POLR2A	chr3:81810024-81811733	K562	blood:	n/a	n/a
8	RCOR1	chr3:81809918-81811512	K562	blood:	n/a	n/a
9	POLR2A	chr3:81809681-81811783	GM12878	blood:	n/a	n/a
10	EP300	chr3:81809811-81811624	GM12878	blood:	n/a	chr3:81810803-81810819 chr3:81811589-81811603 chr3:81810319-81810335 chr3:81810939-81810955
11	MYC	chr3:81809659-81811873	A549	lung:	n/a	chr3:81810948-81810964 chr3:81810392-81810402 chr3:81810858-81810868
12	POLR2A	chr3:81809196-81812982	GM12891	blood:	n/a	n/a
13	CEBPB	chr3:81809929-81811541	GM12878	blood:	n/a	chr3:81810254-81810265
14	MAX	chr3:81809742-81811451	GM12878	blood:	n/a	chr3:81810948-81810964 chr3:81810392-81810402 chr3:81810858-81810868
15	MAX	chr3:81809867-81811683	A549	lung:	n/a	chr3:81810948-81810964 chr3:81810392-81810402 chr3:81810858-81810868
16	JUND	chr3:81809914-81811595	K562	blood:	n/a	chr3:81810180-81810194 chr3:81810193-81810201 chr3:81810195-81810204 chr3:81810194-81810205 chr3:81810477-81810486
17	POLR2A	chr3:81808535-81812327	MCF10A-Er-Src	breast:	n/a	n/a
18	JUN	chr3:81809831-81811751	K562	blood:	n/a	chr3:81810180-81810194 chr3:81810193-81810201 chr3:81810195-81810204 chr3:81810477-81810486
19	CUX1	chr3:81809763-81811623	K562	blood:	n/a	n/a
20	POLR2A	chr3:81807161-81811542	PBDE	blood:	n/a	n/a
21	FOXM1	chr3:81809943-81811418	GM12878	blood:	n/a	n/a
22	NFATC1	chr3:81809748-81811733	GM12878	blood:	n/a	n/a
23	EP300	chr3:81810039-81811931	K562	blood:	n/a	chr3:81810803-81810819 chr3:81811589-81811603 chr3:81810319-81810335 chr3:81810939-81810955
24	POLR2A	chr3:81809916-81811923	GM12892	blood:	n/a	n/a
25	KAP1	chr3:81809553-81811632	HEK293	kidney:	n/a	n/a
26	NFATC1	chr3:81810649-81811469	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:81809830-81811942	HepG2	liver:	n/a	n/a
28	POLR2A	chr3:81809258-81811955	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr3:81809755-81811870	GM12892	blood:	n/a	n/a
30	POLR2A	chr3:81809684-81811483	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:81809931-81811754	GM12892	blood:	n/a	n/a
32	ATF2	chr3:81810763-81811537	GM12878	blood:	n/a	n/a
33	MXI1	chr3:81809442-81811460	GM12878	blood:	n/a	chr3:81811317-81811326
34	POLR2A	chr3:81810069-81811426	GM18951	blood:	n/a	n/a
35	STAT5A	chr3:81810417-81811452	GM12878	blood:	n/a	n/a
36	MYC	chr3:81809868-81811564	K562	blood:	n/a	chr3:81810948-81810964 chr3:81810392-81810402 chr3:81810858-81810868
37	POLR2A	chr3:81809303-81811517	GM19193	blood:	n/a	n/a
38	MAX	chr3:81809740-81811461	A549	lung:	n/a	chr3:81810948-81810964 chr3:81810392-81810402 chr3:81810858-81810868
39	POLR2A	chr3:81809544-81811650	Raji	blood:	n/a	n/a
40	TBL1XR1	chr3:81809957-81811417	K562	blood:	n/a	n/a
41	BCLAF1	chr3:81809725-81811523	GM12878	blood:	n/a	chr3:81810803-81810812 chr3:81810798-81810811
42	CTCF	chr3:81809577-81811811	A549	lung:	n/a	chr3:81810955-81810968 chr3:81810858-81810871 chr3:81810953-81810971
43	POLR2A	chr3:81809729-81811720	GM12891	blood:	n/a	n/a
44	MXI1	chr3:81809014-81811693	SK-N-SH	brain:	n/a	chr3:81811317-81811326
45	POLR2A	chr3:81809393-81812042	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr3:81808053-81811812	GM12878	blood:	n/a	n/a
47	STAT3	chr3:81809837-81811803	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:81809866-81811468	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr3:81809751-81811654	K562	blood:	n/a	n/a
50	PML	chr3:81809703-81812388	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
2	chr12:121733110..121736069-chr3:81809721..81812341,2	MCF-7	breast:
3	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	Chromatin interaction
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55850416	0.82[AFR][1000 genomes]
rs55903411	0.82[AFR][1000 genomes]
rs55980200	0.82[AFR][1000 genomes]
rs56234525	1.00[AFR][1000 genomes]
rs59795628	0.82[AFR][1000 genomes]
rs60401337	0.82[AFR][1000 genomes]
rs73853448	0.82[AFR][1000 genomes]
rs73853451	0.82[AFR][1000 genomes]
rs73853452	0.82[AFR][1000 genomes]
rs73853455	0.82[AFR][1000 genomes]
rs73853456	0.82[AFR][1000 genomes]
rs73853459	0.82[AFR][1000 genomes]
rs73853460	0.82[AFR][1000 genomes]
rs73853461	0.82[AFR][1000 genomes]
rs73853462	0.82[AFR][1000 genomes]
rs73853464	0.82[AFR][1000 genomes]
rs73853473	0.82[AFR][1000 genomes]
rs73853474	0.82[AFR][1000 genomes]
rs73853475	0.82[AFR][1000 genomes]
rs73853476	0.82[AFR][1000 genomes]
rs73853477	0.82[AFR][1000 genomes]
rs73853478	0.82[AFR][1000 genomes]
rs73853479	0.82[AFR][1000 genomes]
rs73853480	0.82[AFR][1000 genomes]
rs73853482	0.82[AFR][1000 genomes]
rs73853483	0.82[AFR][1000 genomes]
rs73853484	0.82[AFR][1000 genomes]
rs73853485	1.00[AFR][1000 genomes]
rs73853486	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81805600-81811600	Active TSS	Right Ventricle	heart
2	chr3:81807800-81811600	Active TSS	Psoas Muscle	Psoas
3	chr3:81809000-81811800	Active TSS	Aorta	Aorta
4	chr3:81809600-81811800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr3:81809800-81811600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:81809800-81811600	Active TSS	Fetal Stomach	stomach
7	chr3:81810000-81811600	Active TSS	Small Intestine	intestine
8	chr3:81810200-81811800	Active TSS	Fetal Kidney	kidney
9	chr3:81810800-81811600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr3:81810800-81811600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:81810800-81811800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:81810800-81811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:81810800-81811800	Flanking Active TSS	Dnd41	blood
14	chr3:81811000-81811600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:81811000-81811600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr3:81811000-81811600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr3:81811000-81811600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr3:81811000-81811600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr3:81811000-81811600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:81811000-81811600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:81811000-81811600	Flanking Active TSS	Fetal Heart	heart
22	chr3:81811000-81811600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr3:81811000-81811600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:81811000-81811600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr3:81811000-81811600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr3:81811000-81811600	Flanking Active TSS	Hela-S3	cervix
27	chr3:81811000-81811600	Flanking Active TSS	HepG2	liver
28	chr3:81811000-81811600	Flanking Active TSS	HMEC	breast
29	chr3:81811000-81811600	Flanking Active TSS	HSMMtube	muscle
30	chr3:81811000-81811600	Flanking Active TSS	HUVEC	blood vessel
31	chr3:81811000-81811800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:81811000-81811800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:81811000-81811800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr3:81811000-81811800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr3:81811000-81811800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:81811000-81811800	Flanking Active TSS	GM12878-XiMat	blood
37	chr3:81811000-81811800	Flanking Active TSS	NH-A	brain
38	chr3:81811000-81811800	Flanking Active TSS	NHDF-Ad	bronchial
39	chr3:81811000-81811800	Flanking Active TSS	Osteobl	bone
40	chr3:81811200-81811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:81811200-81811600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:81811200-81811600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:81811200-81811600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr3:81811200-81811600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr3:81811200-81811600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr3:81811200-81811600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:81811200-81811600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:81811200-81811600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr3:81811200-81811600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr3:81811200-81811600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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