Variant report

Variant	rs72844204
Chromosome Location	chr6:28411468-28411469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr6:28410976-28411481	PFSK-1	brain:	n/a	n/a
2	SIN3AK20	chr6:28410881-28411499	SK-N-SH	brain:	n/a	n/a
3	GABPA	chr6:28410914-28411619	HL-60	blood:	n/a	n/a
4	POLR2A	chr6:28410994-28411537	HEK293	kidney:	n/a	n/a
5	POLR2A	chr6:28410968-28411532	GM18526	blood:	n/a	n/a
6	POLR2A	chr6:28410868-28411530	U87	brain:	n/a	n/a
7	REST	chr6:28410108-28411838	H1-neurons	neurons:	n/a	chr6:28411290-28411310
8	POLR2A	chr6:28410742-28411563	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:28410995-28411577	GM12891	blood:	n/a	n/a
10	BACH1	chr6:28411264-28411539	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:28410990-28411525	GM12892	blood:	n/a	n/a
12	POLR2A	chr6:28410952-28411592	HL-60	blood:	n/a	n/a
13	GABPA	chr6:28410826-28411712	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr6:28410986-28411472	GM15510	blood:	n/a	n/a
15	BCLAF1	chr6:28410933-28411596	GM12878	blood:	n/a	n/a
16	EP300	chr6:28410989-28411485	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr6:28411166-28411514	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:28410978-28411550	GM19099	blood:	n/a	n/a
19	FOS	chr6:28411127-28411479	HUVEC	blood vessel:	n/a	n/a
20	CREB1	chr6:28410967-28411492	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:28410795-28411679	H1-neurons	neurons:	n/a	n/a
22	RELA	chr6:28411048-28411482	GM15510	blood:	n/a	n/a
23	POLR2A	chr6:28410819-28411530	U87	brain:	n/a	n/a
24	POLR2A	chr6:28411020-28411546	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr6:28410642-28411556	MCF10A-Er-Src	breast:	n/a	n/a
26	RCOR1	chr6:28411043-28411618	GM12878	blood:	n/a	n/a
27	EGR1	chr6:28411089-28411511	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr6:28410739-28411489	H1-neurons	neurons:	n/a	n/a
29	RUNX3	chr6:28410938-28411542	GM12878	blood:	n/a	n/a
30	SP4	chr6:28410921-28411480	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:28410993-28411508	NB4	blood:	n/a	n/a
32	FOS	chr6:28411130-28411527	MCF10A-Er-Src	breast:	n/a	n/a
33	EP300	chr6:28411053-28411553	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:28411002-28411552	GM12878	blood:	n/a	n/a
35	CREB1	chr6:28410972-28411561	GM12878	blood:	n/a	n/a
36	CREB1	chr6:28410973-28411557	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr6:28411042-28411484	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr6:28410982-28411569	MCF10A-Er-Src	breast:	n/a	n/a
39	JUND	chr6:28411059-28411566	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr6:28410793-28411482	H1-hESC	embryonic stem cell:	n/a	n/a
41	KAP1	chr6:28411168-28411780	HEK293	kidney:	n/a	n/a
42	GABPA	chr6:28410843-28411696	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr6:28411017-28411475	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr6:28410869-28411620	GM12892	blood:	n/a	n/a
45	TEAD4	chr6:28411038-28411496	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr6:28411001-28411576	SK-N-SH	brain:	n/a	n/a
47	MYC	chr6:28411044-28411585	NB4	blood:	n/a	n/a
48	POLR2A	chr6:28410926-28411489	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr6:28410907-28411473	GM12878	blood:	n/a	n/a
50	GABPA	chr6:28410783-28411795	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28411423-28411473	HepG2	liver:	n/a
2	chr6:28411423-28411473	RPTEC	kidney:	n/a
3	chr6:28411423-28411473	T-47D	breast:	n/a
4	chr6:28411423-28411473	HCPEpiC	choroid plexus:	n/a
5	chr6:28411423-28411473	H1-hESC	embryonic stem cell:	embryo
6	chr6:28411423-28411473	SK-N-MC	brain:	n/a
7	chr6:28411423-28411473	SKMC	muscle:	n/a
8	chr6:28411423-28411473	ECC-1	luminal epithelium:	n/a
9	chr6:28411423-28411473	HEK293	kidney:	embryo
10	chr6:28411423-28411473	NHBE	bronchial:	n/a
11	chr6:28411423-28411473	PANC-1	pancreas:	n/a
12	chr6:28411423-28411473	GM12891	blood:	n/a
13	chr6:28411423-28411473	NHDF-neo	bronchial:	n/a
14	chr6:28411423-28411473	Caco-2	colon:	n/a
15	chr6:28411423-28411473	SAEC	small airway:	n/a
16	chr6:28411423-28411473	A549	lung:	n/a
17	chr6:28411423-28411473	HNPCEpiC	eye:	n/a
18	chr6:28411423-28411473	SK-N-SH_RA	brain:	n/a
19	chr6:28411423-28411473	HRCEpiC	kidney:	n/a
20	chr6:28411423-28411473	NB4	blood:	n/a
21	chr6:28411423-28411473	HCF	heart:	n/a
22	chr6:28411423-28411473	LNCaP	prostate:	n/a
23	chr6:28411423-28411473	Hela-S3	cervix:	n/a
24	chr6:28411423-28411473	NT2-D1	testis:	n/a
25	chr6:28411423-28411473	HL-60	blood:	n/a
26	chr6:28411423-28411473	AG10803	skin:	n/a
27	chr6:28411423-28411473	AG09309	skin:	n/a
28	chr6:28411423-28411473	MCF10A-Er-Src	breast:	n/a
29	chr6:28411423-28411473	BJ	skin:	n/a
30	chr6:28411423-28411473	K562	blood:	n/a
31	chr6:28411423-28411473	GM06990	blood:	n/a
32	chr6:28411423-28411473	SK-N-SH	brain:	n/a
33	chr6:28411423-28411473	AoSMC	blood vessel:	n/a
34	chr6:28411423-28411473	HEEpiC	esophagus:	n/a
35	chr6:28411423-28411473	U87	brain:	n/a
36	chr6:28411423-28411473	PFSK-1	brain:	n/a
37	chr6:28411423-28411473	GM19239	blood:	n/a
38	chr6:28411423-28411473	HCM	heart:	n/a
39	chr6:28411423-28411473	BE2_C	brain:	n/a
40	chr6:28411423-28411473	HUVEC	blood vessel:	n/a
41	chr6:28411423-28411473	HCT-116	colon:	n/a
42	chr6:28411423-28411473	Hepatocyte	liver:	n/a
43	chr6:28411423-28411473	HMEC	breast:	n/a
44	chr6:28411423-28411473	PrEC	prostate:	n/a
45	chr6:28411423-28411473	HRE	kidney:	n/a
46	chr6:28411423-28411473	HIPEpiC	eye:	n/a
47	chr6:28411423-28411473	ProgFib	skin:	n/a
48	chr6:28411423-28411473	AG09319	gingival:	n/a
49	chr6:28411423-28411473	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:28411423-28411473	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
ZSCAN23	TF binding region
COX11P1	TF binding region
COX11P1	CpG island
ZSCAN23	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11546572	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2079705	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394101	0.86[EUR][1000 genomes]
rs28745594	1.00[ASN][1000 genomes]
rs34757087	1.00[ASN][1000 genomes]
rs34951544	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35062161	1.00[ASN][1000 genomes]
rs35758328	1.00[ASN][1000 genomes]
rs41269285	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41269287	1.00[AMR][1000 genomes]
rs41269289	1.00[AFR][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41270579	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540253	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844212	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72844220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844223	0.86[EUR][1000 genomes]
rs72844224	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844225	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844226	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849204	1.00[AFR][1000 genomes]
rs72849206	1.00[AFR][1000 genomes]
rs72849210	1.00[AFR][1000 genomes]
rs72849214	1.00[AFR][1000 genomes]
rs72849222	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72850297	1.00[AFR][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72850299	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72854503	1.00[AFR][1000 genomes]
rs72854506	0.82[EUR][1000 genomes]
rs72854515	1.00[AFR][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72854522	1.00[AFR][1000 genomes]
rs72854525	1.00[AFR][1000 genomes]
rs72854527	1.00[AFR][1000 genomes]
rs72854531	1.00[AFR][1000 genomes]
rs72854533	1.00[AFR][1000 genomes]
rs72854535	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854536	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854542	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854546	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854553	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854556	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752415	1.00[AFR][1000 genomes]
rs7770236	0.86[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28410000-28411800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr6:28410000-28411800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:28410200-28411600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:28410200-28411600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:28410200-28411600	Active TSS	Brain Anterior Caudate	brain
6	chr6:28410200-28411600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr6:28410200-28411600	Active TSS	NHLF	lung
8	chr6:28410200-28411800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:28410200-28411800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:28410200-28411800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:28410200-28411800	Active TSS	Brain Angular Gyrus	brain
12	chr6:28410200-28411800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:28410200-28412000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:28410200-28412000	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:28410200-28412000	Flanking Active TSS	Dnd41	blood
16	chr6:28410400-28411600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:28410400-28411600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:28410400-28411600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:28410400-28411600	Active TSS	Brain Substantia Nigra	brain
20	chr6:28410400-28411600	Active TSS	GM12878-XiMat	blood
21	chr6:28410400-28411800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:28410400-28411800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:28410400-28411800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:28410400-28411800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:28410400-28411800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:28410400-28411800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:28410400-28411800	Active TSS	Fetal Brain Female	brain
28	chr6:28410400-28411800	Active TSS	Fetal Lung	lung
29	chr6:28410400-28411800	Active TSS	Right Atrium	heart
30	chr6:28410400-28411800	Active TSS	NHEK	skin
31	chr6:28410400-28412000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr6:28410400-28412000	Active TSS	Psoas Muscle	Psoas
33	chr6:28410400-28412400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:28410600-28411600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:28410600-28411600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:28410600-28411600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:28410600-28411600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:28410600-28411600	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:28410600-28411600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr6:28410600-28411600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr6:28410600-28411600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr6:28410600-28411600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:28410600-28411600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:28410600-28411600	Active TSS	Aorta	Aorta
45	chr6:28410600-28411600	Active TSS	Brain Germinal Matrix	brain
46	chr6:28410600-28411600	Active TSS	Fetal Muscle Leg	muscle
47	chr6:28410600-28411600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr6:28410600-28411600	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr6:28410600-28411600	Bivalent/Poised TSS	HepG2	liver
50	chr6:28410600-28411800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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