Variant report

Variant	rs3789786
Chromosome Location	chr6:143771030-143771031
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	POLR2A	chr6:143770519-143772427	K562	blood:	n/a	n/a
2	MAX	chr6:143770793-143772422	MCF-7	breast:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
3	NFIC	chr6:143770760-143772176	HepG2	liver:	n/a	n/a
4	RELA	chr6:143770911-143772308	GM15510	blood:	n/a	n/a
5	MYC	chr6:143770862-143772117	K562	blood:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
6	MYC	chr6:143770873-143772170	Hela-S3	cervix:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
7	BCLAF1	chr6:143770720-143771272	GM12878	blood:	n/a	n/a
8	RELA	chr6:143770949-143772228	GM19193	blood:	n/a	n/a
9	MBD4	chr6:143770716-143772336	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:143770844-143772478	GM18505	blood:	n/a	n/a
11	POU2F2	chr6:143770873-143771068	GM12891	blood:	n/a	n/a
12	BHLHE40	chr6:143770761-143772580	GM12878	blood:	n/a	chr6:143771425-143771434 chr6:143771425-143771434 chr6:143771943-143771959 chr6:143771960-143771976 chr6:143771957-143771973
13	IRF1	chr6:143770424-143772274	K562	blood:	n/a	chr6:143771324-143771337 chr6:143771997-143772011 chr6:143771318-143771338
14	POLR2A	chr6:143770870-143771077	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:143770844-143772466	Raji	blood:	n/a	n/a
16	TBL1XR1	chr6:143770835-143772294	K562	blood:	n/a	n/a
17	MXI1	chr6:143770998-143772405	K562	blood:	n/a	chr6:143771092-143771101
18	TBP	chr6:143770707-143772168	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:143770771-143771033	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:143770495-143772396	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr6:143770828-143772337	K562	blood:	n/a	n/a
22	CHD2	chr6:143770919-143771383	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:143771025-143772388	HUVEC	blood vessel:	n/a	n/a
24	MYC	chr6:143770908-143772272	K562	blood:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
25	MYBL2	chr6:143770652-143772663	HepG2	liver:	n/a	n/a
26	TBL1XR1	chr6:143770874-143772214	GM12878	blood:	n/a	n/a
27	GTF2F1	chr6:143771009-143772227	K562	blood:	n/a	n/a
28	MYC	chr6:143770769-143772121	MCF10A-Er-Src	breast:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
29	MAX	chr6:143770846-143772455	ECC-1	luminal epithelium:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
30	POLR2A	chr6:143770685-143772368	K562	blood:	n/a	n/a
31	RPC155	chr6:143770586-143771330	Hela-S3	cervix:	n/a	n/a
32	MYC	chr6:143770575-143772435	K562	blood:	n/a	chr6:143771091-143771100 chr6:143771424-143771435 chr6:143772039-143772047 chr6:143771091-143771101 chr6:143771090-143771101 chr6:143771091-143771100 chr6:143771092-143771099 chr6:143771090-143771101 chr6:143771425-143771434
33	GTF3C2	chr6:143770798-143772249	K562	blood:	n/a	n/a
34	RCOR1	chr6:143770913-143772544	K562	blood:	n/a	n/a
35	BHLHE40	chr6:143770851-143772459	HepG2	liver:	n/a	chr6:143771425-143771434 chr6:143771425-143771434 chr6:143771943-143771959 chr6:143771960-143771976 chr6:143771957-143771973
36	GTF2F1	chr6:143770898-143772579	Hela-S3	cervix:	n/a	n/a
37	GTF3C2	chr6:143770786-143771737	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr6:143770771-143771098	MCF10A-Er-Src	breast:	n/a	n/a
39	JUND	chr6:143770864-143772511	K562	blood:	n/a	n/a
40	POLR2A	chr6:143770832-143772317	HL-60	blood:	n/a	n/a
41	POLR2A	chr6:143770856-143771081	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:143770767-143772467	GM12892	blood:	n/a	n/a
43	NFIC	chr6:143770829-143772340	GM12878	blood:	n/a	n/a
44	USF2	chr6:143771012-143772211	H1-hESC	embryonic stem cell:	n/a	chr6:143771425-143771434 chr6:143771425-143771434 chr6:143771943-143771959 chr6:143771960-143771976 chr6:143771957-143771973
45	STAT1	chr6:143771028-143771338	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:143770891-143772449	GM12878	blood:	n/a	n/a
47	MAZ	chr6:143770851-143771054	HepG2	liver:	n/a	n/a
48	WRNIP1	chr6:143770871-143772504	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:143770897-143772483	GM18951	blood:	n/a	n/a
50	GABPA	chr6:143770945-143772347	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:143770561..143773410-chr6:143856875..143861047,4	MCF-7	breast:
2	chr6:143769666..143773987-chr6:143831101..143834872,5	MCF-7	breast:
3	chr6:143758626..143760810-chr6:143770211..143772331,4	MCF-7	breast:
4	chr6:143770816..143772927-chr6:143831000..143833550,2	MCF-7	breast:
5	chr6:143769099..143771662-chr6:144327770..144329794,2	K562	blood:
6	chr6:143770206..143776731-chr6:143830754..143834661,9	K562	blood:
7	chr6:143769046..143771743-chr6:144414666..144417027,2	K562	blood:
8	chr6:143761031..143767695-chr6:143768053..143772068,9	MCF-7	breast:
9	chr6:143770206..143773921-chr6:143828795..143834716,12	K562	blood:

Variant related genes	Relation type
PEX3	TF binding region
ENSG00000169976	Chromatin interaction
ENSG00000112419	Chromatin interaction
ENSG00000268402	Chromatin interaction
ENSG00000118495	Chromatin interaction
ENSG00000189007	Chromatin interaction
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12664852	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1338532	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17072588	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17072608	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17072691	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4896655	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4896657	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9496638	0.82[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143769600-143772600	Active TSS	K562	blood
2	chr6:143770200-143772600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:143770400-143771200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:143770400-143771600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:143770400-143771600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:143770400-143771600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr6:143770400-143772600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:143770400-143772600	Active TSS	A549	lung
9	chr6:143770400-143772800	Active TSS	Psoas Muscle	Psoas
10	chr6:143770600-143771200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:143770600-143771200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:143770600-143771200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:143770600-143771200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:143770600-143771200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr6:143770600-143771200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:143770600-143771200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:143770600-143771200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr6:143770600-143771200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:143770600-143771200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr6:143770600-143771200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr6:143770600-143771200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr6:143770600-143771200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:143770600-143771200	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr6:143770600-143771200	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr6:143770600-143771200	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr6:143770600-143771200	Flanking Active TSS	Fetal Lung	lung
27	chr6:143770600-143771200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr6:143770600-143771200	Flanking Active TSS	Fetal Stomach	stomach
29	chr6:143770600-143771200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:143770600-143771200	Flanking Active TSS	Thymus	Thymus
31	chr6:143770600-143771200	Flanking Active TSS	HUVEC	blood vessel
32	chr6:143770600-143771200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr6:143770600-143771200	Flanking Active TSS	Osteobl	bone
34	chr6:143770600-143771400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr6:143770600-143771400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr6:143770600-143771400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr6:143770600-143771400	Flanking Active TSS	Fetal Brain Female	brain
38	chr6:143770600-143771600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:143770600-143771600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:143770600-143771600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:143770600-143771600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:143770600-143771800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:143770600-143772400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr6:143770600-143772600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:143770600-143772600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:143770600-143772600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr6:143770600-143772600	Active TSS	HSMM	muscle
48	chr6:143770600-143772600	Active TSS	NHEK	skin
49	chr6:143770600-143772800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:143770600-143772800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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