Variant report

Variant	rs9865536
Chromosome Location	chr3:133380436-133380437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:162)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:162 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:133380168-133381418	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:133380327-133381562	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:133380137-133381514	GM19099	blood:	n/a	n/a
4	ZBTB7A	chr3:133380308-133381081	ECC-1	luminal epithelium:	n/a	n/a
5	MYC	chr3:133380208-133381492	K562	blood:	n/a	chr3:133380462-133380470
6	POLR2A	chr3:133380210-133381419	GM18951	blood:	n/a	n/a
7	POLR2A	chr3:133380417-133381151	GM12891	blood:	n/a	n/a
8	POLR2A	chr3:133380127-133381571	GM12892	blood:	n/a	n/a
9	MYC	chr3:133380409-133381277	MCF10A-Er-Src	breast:	n/a	chr3:133380462-133380470
10	PML	chr3:133380354-133381267	GM12878	blood:	n/a	n/a
11	TAF1	chr3:133380436-133381095	ECC-1	luminal epithelium:	n/a	n/a
12	ZBTB7A	chr3:133380409-133381026	K562	blood:	n/a	n/a
13	POLR2A	chr3:133380204-133381020	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:133380363-133381459	GM19193	blood:	n/a	n/a
15	E2F4	chr3:133380337-133380994	K562	blood:	n/a	chr3:133380784-133380792 chr3:133380785-133380796 chr3:133380785-133380796 chr3:133380785-133380792 chr3:133380785-133380792 chr3:133380683-133380693 chr3:133380783-133380794 chr3:133380785-133380792
16	ELF1	chr3:133380284-133381177	SK-N-SH	brain:	n/a	chr3:133380755-133380764 chr3:133380754-133380765 chr3:133380754-133380765
17	POLR2A	chr3:133380410-133380913	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr3:133380415-133381142	SK-N-MC	brain:	n/a	n/a
19	FOXA1	chr3:133380091-133380980	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:133380398-133381373	GM12892	blood:	n/a	n/a
21	POLR2A	chr3:133380304-133381432	K562	blood:	n/a	n/a
22	POLR2A	chr3:133380085-133381528	GM18526	blood:	n/a	n/a
23	POLR2A	chr3:133380086-133381214	U87	brain:	n/a	n/a
24	ZBTB7A	chr3:133380248-133381115	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr3:133380241-133381550	H1-neurons	neurons:	n/a	n/a
26	MXI1	chr3:133380408-133380951	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr3:133380269-133381308	Hela-S3	cervix:	n/a	n/a
28	NFATC1	chr3:133380392-133381326	GM12878	blood:	n/a	n/a
29	MAX	chr3:133380213-133381014	K562	blood:	n/a	chr3:133380462-133380470
30	HEY1	chr3:133380348-133381082	K562	blood:	n/a	chr3:133380683-133380698 chr3:133380789-133380804
31	ELF1	chr3:133380258-133381193	MCF-7	breast:	n/a	chr3:133380755-133380764 chr3:133380754-133380765 chr3:133380754-133380765
32	POLR2A	chr3:133380340-133381344	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr3:133380258-133381141	HL-60	blood:	n/a	n/a
34	MYC	chr3:133380186-133381380	K562	blood:	n/a	chr3:133380462-133380470
35	TAF1	chr3:133380375-133380953	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3AK20	chr3:133380408-133381034	K562	blood:	n/a	n/a
37	ELF1	chr3:133380317-133381005	K562	blood:	n/a	chr3:133380755-133380764 chr3:133380754-133380765 chr3:133380754-133380765
38	GABPA	chr3:133380116-133381398	A549	lung:	n/a	n/a
39	GABPA	chr3:133380149-133381484	MCF-7	breast:	n/a	n/a
40	SIN3A	chr3:133380065-133381423	GM12878	blood:	n/a	chr3:133380580-133380588 chr3:133380697-133380708 chr3:133380661-133380672
41	SIN3AK20	chr3:133380434-133381027	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr3:133380408-133381445	HepG2	liver:	n/a	n/a
43	POLR2A	chr3:133380114-133381398	Hela-S3	cervix:	n/a	n/a
44	MAX	chr3:133380317-133380980	H1-hESC	embryonic stem cell:	n/a	chr3:133380462-133380470
45	MAX	chr3:133380217-133381044	ECC-1	luminal epithelium:	n/a	chr3:133380462-133380470
46	POLR2A	chr3:133380114-133381583	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:133380408-133381462	GM12891	blood:	n/a	n/a
48	POLR2A	chr3:133380271-133381078	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr3:133380132-133381472	PBDE	blood:	n/a	n/a
50	POLR2A	chr3:133380353-133381268	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133380420-133380470	AG04450	lung:	fetal
2	chr3:133380420-133380470	HRCEpiC	kidney:	n/a
3	chr3:133380420-133380470	MCF-7	breast:	n/a
4	chr3:133380420-133380470	AG10803	skin:	n/a
5	chr3:133380420-133380470	U87	brain:	n/a
6	chr3:133380420-133380470	NB4	blood:	n/a
7	chr3:133380420-133380470	K562	blood:	n/a
8	chr3:133380420-133380470	CMK	blood:	n/a
9	chr3:133380420-133380470	GM12891	blood:	n/a
10	chr3:133380420-133380470	Hepatocyte	liver:	n/a
11	chr3:133380420-133380470	HUVEC	blood vessel:	n/a
12	chr3:133380420-133380470	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:133380420-133380470	Jurkat	blood:	n/a
14	chr3:133380420-133380470	HCM	heart:	n/a
15	chr3:133380420-133380470	ovcar-3	ovarian:	n/a
16	chr3:133380420-133380470	AoSMC	blood vessel:	n/a
17	chr3:133380420-133380470	HCF	heart:	n/a
18	chr3:133380420-133380470	ProgFib	skin:	n/a
19	chr3:133380420-133380470	SK-N-MC	brain:	n/a
20	chr3:133380420-133380470	HEEpiC	esophagus:	n/a
21	chr3:133380420-133380470	IMR90	lung:	fetal
22	chr3:133380420-133380470	SK-N-SH_RA	brain:	n/a
23	chr3:133380420-133380470	Hela-S3	cervix:	n/a
24	chr3:133380420-133380470	SKMC	muscle:	n/a
25	chr3:133380420-133380470	NT2-D1	testis:	n/a
26	chr3:133380420-133380470	GM12878	blood:	n/a
27	chr3:133380420-133380470	HAEpiC	amniotic membrane:	n/a
28	chr3:133380420-133380470	AG09319	gingival:	n/a
29	chr3:133380420-133380470	RPTEC	kidney:	n/a
30	chr3:133380420-133380470	PANC-1	pancreas:	n/a
31	chr3:133380420-133380470	BE2_C	brain:	n/a
32	chr3:133380420-133380470	T-47D	breast:	n/a
33	chr3:133380420-133380470	NHDF-neo	bronchial:	n/a
34	chr3:133380420-133380470	A549	lung:	n/a
35	chr3:133380420-133380470	HRPEpiC	eye:	n/a
36	chr3:133380420-133380470	HCT-116	colon:	n/a
37	chr3:133380420-133380470	HL-60	blood:	n/a
38	chr3:133380420-133380470	GM12892	blood:	n/a
39	chr3:133380420-133380470	PrEC	prostate:	n/a
40	chr3:133380420-133380470	MCF10A-Er-Src	breast:	n/a
41	chr3:133380420-133380470	GM06990	blood:	n/a
42	chr3:133380420-133380470	GM19239	blood:	n/a
43	chr3:133380420-133380470	LNCaP	prostate:	n/a
44	chr3:133380420-133380470	Caco-2	colon:	n/a
45	chr3:133380420-133380470	AG04449	skin:	fetal
46	chr3:133380420-133380470	HCPEpiC	choroid plexus:	n/a
47	chr3:133380420-133380470	HRE	kidney:	n/a
48	chr3:133380420-133380470	HEK293	kidney:	embryo
49	chr3:133380420-133380470	HNPCEpiC	eye:	n/a
50	chr3:133380420-133380470	SK-N-SH	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133378019..133382399-chr3:133522860..133528810,6	K562	blood:
2	chr3:133380350..133382601-chr3:133523415..133526726,4	K562	blood:
3	chr12:6875283..6876240-chr3:133380248..133380965,2	Hela-S3	cervix:
4	chr3:133371314..133375654-chr3:133378564..133381849,6	K562	blood:
5	chr3:133379614..133382648-chr3:133523517..133526970,4	MCF-7	breast:
6	chr19:55918692..55919573-chr3:133379900..133380571,2	Hela-S3	cervix:
7	chr3:133292114..133294655-chr3:133378270..133380553,3	K562	blood:
8	chr3:133374912..133377513-chr3:133379480..133381997,2	MCF-7	breast:

No data

Variant related genes	Relation type
TOPBP1	TF binding region
RNU6-678P	TF binding region
TFP1	TF binding region
RNU6-678P	CpG island
TFP1	CpG island
TOPBP1	CpG island
ENSG00000163781	Chromatin interaction
ENSG00000144867	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000091527	Chromatin interaction
ENSG00000159335	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10049041	0.88[EUR][1000 genomes]
rs1051772	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11919027	0.88[EUR][1000 genomes]
rs11923695	0.86[EUR][1000 genomes]
rs11928489	0.88[EUR][1000 genomes]
rs11928864	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12695595	0.88[EUR][1000 genomes]
rs13072634	0.88[EUR][1000 genomes]
rs13096215	0.88[EUR][1000 genomes]
rs13098235	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13315841	0.90[ASN][1000 genomes]
rs13325440	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1348574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16840601	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2099985	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2589276	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs34239013	0.90[ASN][1000 genomes]
rs34375330	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34519945	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34664124	0.90[ASN][1000 genomes]
rs34672862	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34736000	0.90[ASN][1000 genomes]
rs34844086	0.88[EUR][1000 genomes]
rs35717736	0.90[ASN][1000 genomes]
rs35824665	0.86[EUR][1000 genomes]
rs35853116	0.83[ASN][1000 genomes]
rs36033747	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55633281	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57447001	0.88[AMR][1000 genomes]
rs58200773	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60695717	0.88[AMR][1000 genomes]
rs6774104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779063	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67852078	0.88[EUR][1000 genomes]
rs6798570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71317413	0.86[EUR][1000 genomes]
rs71317417	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71331727	0.83[ASN][1000 genomes]
rs71331728	0.83[ASN][1000 genomes]
rs7628914	0.93[ASN][1000 genomes]
rs7637748	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9289452	0.83[ASN][1000 genomes]
rs9289453	0.83[ASN][1000 genomes]
rs9810823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815273	0.83[ASN][1000 genomes]
rs9818377	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9818392	0.83[ASN][1000 genomes]
rs9824964	0.88[EUR][1000 genomes]
rs9827019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836356	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9838963	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9839156	0.93[ASN][1000 genomes]
rs9841141	0.88[EUR][1000 genomes]
rs9847690	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9850362	0.88[EUR][1000 genomes]
rs9852403	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9852789	0.83[ASN][1000 genomes]
rs9857351	0.88[EUR][1000 genomes]
rs9863830	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9871504	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9876306	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9876463	0.90[ASN][1000 genomes]
rs9881110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	chr3:133378200-133381400	Active TSS	GM12878-XiMat	blood
2	chr3:133379000-133380600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:133379000-133381000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:133379000-133381200	Active TSS	Fetal Brain Female	brain
5	chr3:133379000-133381600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:133379200-133381600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:133379200-133381600	Active TSS	Brain Germinal Matrix	brain
8	chr3:133379400-133381000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:133379400-133381200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:133379400-133381200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:133379400-133381200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:133379400-133381200	Active TSS	NHEK	skin
13	chr3:133379400-133381400	Active TSS	NHLF	lung
14	chr3:133379400-133381600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:133379400-133381600	Active TSS	A549	lung
16	chr3:133379400-133381600	Active TSS	NHDF-Ad	bronchial
17	chr3:133379600-133381000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr3:133379600-133381200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:133379600-133381200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:133379600-133381200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:133379600-133381200	Active TSS	Fetal Muscle Leg	muscle
22	chr3:133379600-133381200	Active TSS	Fetal Thymus	thymus
23	chr3:133379600-133381400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:133379600-133381600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr3:133379600-133381600	Active TSS	HSMM	muscle
26	chr3:133379600-133381800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr3:133379600-133381800	Active TSS	K562	blood
28	chr3:133379800-133380600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr3:133379800-133381000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:133379800-133381000	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr3:133379800-133381000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:133379800-133381000	Active TSS	Fetal Kidney	kidney
33	chr3:133379800-133381000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr3:133379800-133381200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:133379800-133381200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:133379800-133381200	Active TSS	Dnd41	blood
37	chr3:133379800-133381200	Active TSS	Hela-S3	cervix
38	chr3:133379800-133381200	Active TSS	HMEC	breast
39	chr3:133379800-133381400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:133379800-133381400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:133379800-133381400	Active TSS	Fetal Intestine Large	intestine
42	chr3:133379800-133381400	Active TSS	NH-A	brain
43	chr3:133379800-133381600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr3:133379800-133381600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr3:133379800-133381600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:133379800-133381600	Active TSS	Colon Smooth Muscle	Colon
47	chr3:133379800-133381800	Active TSS	Fetal Brain Male	brain
48	chr3:133379800-133381800	Active TSS	Stomach Smooth Muscle	stomach
49	chr3:133379800-133382000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:133380000-133380600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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