Variant report

Variant	rs6132598
Chromosome Location	chr20:23332297-23332298
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	MAX	chr20:23331687-23332373	SK-N-SH	brain:	n/a	chr20:23331798-23331809 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23331797-23331812 chr20:23331797-23331810 chr20:23331799-23331809
2	SIN3AK20	chr20:23331638-23332305	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr20:23330364-23332519	GM12891	blood:	n/a	n/a
4	POLR2A	chr20:23330296-23332340	HUVEC	blood vessel:	n/a	n/a
5	MXI1	chr20:23331720-23332413	K562	blood:	n/a	n/a
6	MAX	chr20:23330413-23332317	NB4	blood:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
7	MTA3	chr20:23330335-23332333	GM12878	blood:	n/a	n/a
8	FOXA1	chr20:23332294-23332488	T-47D	breast:	n/a	n/a
9	TBL1XR1	chr20:23332015-23332777	K562	blood:	n/a	n/a
10	POLR2A	chr20:23331734-23332329	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:23329986-23332360	Raji	blood:	n/a	n/a
12	POLR2A	chr20:23330470-23332390	HepG2	liver:	n/a	n/a
13	POLR2A	chr20:23330469-23332433	GM18526	blood:	n/a	n/a
14	POLR2A	chr20:23331849-23332344	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:23330309-23332500	HepG2	liver:	n/a	n/a
16	HEY1	chr20:23331804-23332379	HepG2	liver:	n/a	n/a
17	SIN3A	chr20:23330525-23332435	GM12878	blood:	n/a	n/a
18	MAX	chr20:23330471-23332347	K562	blood:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
19	POLR2A	chr20:23329878-23332407	SK-N-MC	brain:	n/a	n/a
20	PML	chr20:23330309-23332416	GM12878	blood:	n/a	n/a
21	MYBL2	chr20:23330244-23332524	HepG2	liver:	n/a	n/a
22	POLR2A	chr20:23329928-23332549	GM12878	blood:	n/a	n/a
23	POLR2A	chr20:23330477-23332414	K562	blood:	n/a	n/a
24	POLR2A	chr20:23330371-23332490	GM12878	blood:	n/a	n/a
25	POLR2A	chr20:23330228-23332384	K562	blood:	n/a	n/a
26	SIN3AK20	chr20:23330184-23332538	MCF-7	breast:	n/a	n/a
27	RELA	chr20:23330331-23332354	GM10847	blood:	n/a	chr20:23332294-23332303 chr20:23331480-23331489 chr20:23331480-23331489 chr20:23332294-23332303
28	BHLHE40	chr20:23330340-23332320	GM12878	blood:	n/a	chr20:23330993-23331009 chr20:23330982-23330998
29	POLR2A	chr20:23330691-23332413	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr20:23330421-23332297	GM18951	blood:	n/a	n/a
31	POLR2A	chr20:23330499-23332305	K562	blood:	n/a	n/a
32	SIN3AK20	chr20:23330474-23332398	HepG2	liver:	n/a	n/a
33	RELA	chr20:23330207-23332350	GM18951	blood:	n/a	chr20:23332294-23332303 chr20:23331480-23331489 chr20:23331480-23331489 chr20:23332294-23332303
34	POLR2A	chr20:23330253-23332401	GM12892	blood:	n/a	n/a
35	ARID3A	chr20:23330193-23332437	HepG2	liver:	n/a	n/a
36	EP300	chr20:23330424-23332392	GM12878	blood:	n/a	chr20:23330908-23330917 chr20:23331411-23331427 chr20:23331298-23331311 chr20:23331410-23331419
37	MAZ	chr20:23331986-23332410	K562	blood:	n/a	n/a
38	RELA	chr20:23330002-23332421	GM12891	blood:	n/a	chr20:23332294-23332303 chr20:23331480-23331489 chr20:23331480-23331489 chr20:23332294-23332303
39	POLR2A	chr20:23330354-23332308	MCF-7	breast:	n/a	n/a
40	POLR2A	chr20:23330401-23332435	PBDE	blood:	n/a	n/a
41	HDAC2	chr20:23330498-23332430	HepG2	liver:	n/a	n/a
42	SRF	chr20:23330394-23332469	MCF-7	breast:	n/a	chr20:23331915-23331925 chr20:23330740-23330750 chr20:23332156-23332174 chr20:23331609-23331619
43	POLR2A	chr20:23330359-23332355	GM19193	blood:	n/a	n/a
44	TBP	chr20:23331907-23332466	HepG2	liver:	n/a	n/a
45	GABPA	chr20:23330359-23332361	MCF-7	breast:	n/a	chr20:23331062-23331071
46	SMC3	chr20:23331703-23332377	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr20:23329648-23333051	GM12878	blood:	n/a	n/a
48	POLR2A	chr20:23330472-23332314	HepG2	liver:	n/a	n/a
49	CREB1	chr20:23330274-23332350	GM12878	blood:	n/a	chr20:23331018-23331031
50	TAF1	chr20:23330771-23332358	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
2	chr20:23331362..23333588-chr20:23399396..23402095,2	K562	blood:
3	chr20:23029557..23031432-chr20:23330980..23333181,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234832	TF binding region
ENSG00000178726	Chromatin interaction
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2236024	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3761277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	chr20:23329800-23333600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:23330000-23332400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:23330000-23332600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr20:23330000-23332600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr20:23330000-23332800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:23330200-23332400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:23330200-23332400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr20:23330200-23332400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr20:23330200-23332400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr20:23330200-23332400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr20:23330200-23332400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:23330200-23332400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:23330200-23332400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr20:23330200-23332400	Active TSS	Psoas Muscle	Psoas
15	chr20:23330200-23332400	Active TSS	HMEC	breast
16	chr20:23330200-23332400	Active TSS	HSMM	muscle
17	chr20:23330200-23332400	Active TSS	HSMMtube	muscle
18	chr20:23330200-23332600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:23330200-23332600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr20:23330200-23332600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:23330200-23332600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:23330200-23332600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr20:23330200-23332600	Active TSS	A549	lung
24	chr20:23330200-23332600	Active TSS	Hela-S3	cervix
25	chr20:23330200-23332800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr20:23330200-23332800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:23330200-23332800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:23330200-23332800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr20:23330200-23332800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr20:23330200-23332800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr20:23330200-23332800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr20:23330200-23332800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:23330200-23332800	Active TSS	GM12878-XiMat	blood
34	chr20:23330200-23332800	Active TSS	K562	blood
35	chr20:23330200-23332800	Active TSS	NHDF-Ad	bronchial
36	chr20:23330400-23332400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:23330400-23332400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:23330400-23332400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr20:23330400-23332400	Active TSS	NH-A	brain
40	chr20:23330400-23332600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr20:23330400-23332600	Active TSS	Ovary	ovary
42	chr20:23330400-23332800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr20:23330600-23332400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:23330600-23332400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr20:23330600-23332400	Active TSS	Fetal Heart	heart
46	chr20:23330600-23332400	Active TSS	Lung	lung
47	chr20:23330600-23332400	Active TSS	NHEK	skin
48	chr20:23330600-23332600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr20:23330600-23332800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:23331000-23332400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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