Variant report

Variant	rs73400581
Chromosome Location	chr6:28193467-28193468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr6:28192523-28193531	HCT-116	colon:	n/a	chr6:28193008-28193017 chr6:28193007-28193018
2	POLR2A	chr6:28192699-28193537	H1-neurons	neurons:	n/a	n/a
3	NFIC	chr6:28192720-28193492	HepG2	liver:	n/a	n/a
4	ELF1	chr6:28192590-28193539	HCT-116	colon:	n/a	chr6:28193008-28193017 chr6:28193007-28193018
5	ZNF263	chr6:28192862-28193577	HEK293-T-REx	kidney:	n/a	n/a
6	TAF1	chr6:28192769-28193505	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr6:28192723-28193497	GM18951	blood:	n/a	n/a
8	SPI1	chr6:28193267-28193574	GM12891	blood:	n/a	chr6:28193421-28193428 chr6:28193418-28193431
9	POLR2A	chr6:28192636-28193692	H1-hESC	embryonic stem cell:	n/a	n/a
10	GABPA	chr6:28192616-28193495	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr6:28192492-28193633	GM12891	blood:	n/a	n/a
12	SIN3AK20	chr6:28192571-28193564	MCF-7	breast:	n/a	n/a
13	POLR2A	chr6:28192693-28193470	GM12892	blood:	n/a	n/a
14	IRF3	chr6:28193229-28193479	GM12878	blood:	n/a	chr6:28193231-28193240
15	TAF1	chr6:28192717-28193525	K562	blood:	n/a	n/a
16	GABPA	chr6:28192581-28193538	HL-60	blood:	n/a	n/a
17	SMC3	chr6:28192786-28193743	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr6:28192789-28193503	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:28192605-28193478	IMR90	lung:	n/a	n/a
20	STAT3	chr6:28192514-28193618	MCF10A-Er-Src	breast:	n/a	chr6:28193177-28193189
21	ZNF143	chr6:28192798-28193496	GM12878	blood:	n/a	n/a
22	TRIM28	chr6:28192621-28193537	K562	blood:	n/a	n/a
23	HCFC1	chr6:28192490-28194333	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:28192723-28193497	K562	blood:	n/a	n/a
25	RCOR1	chr6:28192788-28193497	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr6:28192799-28193510	HCT-116	colon:	n/a	n/a
27	POLR2A	chr6:28192641-28193467	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr6:28192586-28193481	GM18505	blood:	n/a	n/a
29	RAD21	chr6:28192809-28193478	H1-hESC	embryonic stem cell:	n/a	n/a
30	RUNX3	chr6:28192748-28193503	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:28192737-28193528	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr6:28192580-28193640	SK-N-MC	brain:	n/a	n/a
33	MAZ	chr6:28192787-28193501	K562	blood:	n/a	chr6:28193246-28193256
34	POLR2A	chr6:28192800-28193632	HepG2	liver:	n/a	n/a
35	REST	chr6:28192080-28193913	H1-neurons	neurons:	n/a	n/a
36	RUNX3	chr6:28192698-28193479	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:28192630-28193520	SK-N-SH	brain:	n/a	n/a
38	WRNIP1	chr6:28192548-28193643	GM12878	blood:	n/a	n/a
39	STAT1	chr6:28192860-28193526	GM12878	blood:	n/a	chr6:28193177-28193189
40	POLR2A	chr6:28192612-28193634	HUVEC	blood vessel:	n/a	n/a
41	PML	chr6:28192504-28193586	GM12878	blood:	n/a	n/a
42	TAF1	chr6:28192750-28193508	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr6:28192593-28193516	GM12878	blood:	n/a	n/a
44	BHLHE40	chr6:28192697-28193551	K562	blood:	n/a	n/a
45	POLR2A	chr6:28192716-28193467	Hela-S3	cervix:	n/a	n/a
46	TEAD4	chr6:28192337-28193881	K562	blood:	n/a	n/a
47	POLR2A	chr6:28192825-28193478	ECC-1	luminal epithelium:	n/a	n/a
48	ELF1	chr6:28192551-28193501	MCF-7	breast:	n/a	chr6:28193008-28193017 chr6:28193007-28193018
49	SIN3AK20	chr6:28192801-28193506	K562	blood:	n/a	n/a
50	YY1	chr6:28192782-28193526	SK-N-SH_RA	brain:	n/a	chr6:28193251-28193260

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28184931..28189194-chr6:28190077..28194573,12	MCF-7	breast:
2	chr6:28182735..28195387-chr6:28315960..28325841,32	K562	blood:
3	chr17:8076441..8077151-chr6:28192729..28193485,2	Hela-S3	cervix:
4	chr6:28191649..28195458-chr6:28301378..28307708,9	K562	blood:
5	chr6:28129397..28131360-chr6:28191862..28193480,2	K562	blood:
6	chr6:28191774..28193950-chr6:28248058..28250874,2	K562	blood:
7	chr6:28183629..28195178-chr6:28316250..28325659,29	K562	blood:
8	chr6:28103649..28105487-chr6:28192545..28194839,2	MCF-7	breast:
9	chr6:28102806..28106129-chr6:28190797..28194598,4	K562	blood:
10	chr6:28191711..28195552-chr6:28216768..28221883,5	MCF-7	breast:
11	chr6:28102723..28113786-chr6:28183725..28194756,41	K562	blood:
12	chr6:28184339..28187958-chr6:28190844..28194750,7	MCF-7	breast:
13	chr6:28191934..28194357-chr6:28233804..28235938,2	MCF-7	breast:
14	chr6:28191542..28194803-chr6:28365970..28368645,4	K562	blood:
15	chr6:27859047..27860986-chr6:28192686..28194393,2	K562	blood:
16	chr6:28192051..28194433-chr6:28219534..28221191,2	MCF-7	breast:
17	chr6:28191609..28196785-chr6:28301378..28305522,8	K562	blood:
18	chr6:28108436..28110620-chr6:28192837..28194996,3	MCF-7	breast:
19	chr6:28108043..28113786-chr6:28190485..28194607,10	K562	blood:
20	chr6:27798954..27801175-chr6:28191953..28194580,2	K562	blood:

No data

Variant related genes	Relation type
ZSCAN9	TF binding region
ENSG00000233224	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000226314	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000176933	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16893827	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17720687	0.90[ASN][1000 genomes]
rs2299030	0.87[ASN][1000 genomes]
rs60913498	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66487884	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73400572	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73400575	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7757215	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28192400-28193600	Active TSS	Primary B cells from cord blood	blood
2	chr6:28192400-28193600	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr6:28192400-28193600	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:28192400-28193800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:28192400-28194000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:28192400-28194000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:28192400-28194000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:28192400-28194000	Active TSS	Fetal Kidney	kidney
9	chr6:28192400-28194000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:28192400-28194000	Active TSS	Rectal Smooth Muscle	rectum
11	chr6:28192400-28194000	Active TSS	Right Ventricle	heart
12	chr6:28192400-28194000	Active TSS	HSMM	muscle
13	chr6:28192400-28194200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:28192400-28194200	Active TSS	Psoas Muscle	Psoas
15	chr6:28192400-28194200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:28192400-28194400	Active TSS	NHLF	lung
17	chr6:28192600-28193600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:28192600-28193600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:28192600-28193600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr6:28192600-28193600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr6:28192600-28193600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr6:28192600-28193600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:28192600-28193600	Active TSS	Aorta	Aorta
24	chr6:28192600-28193600	Active TSS	Brain Angular Gyrus	brain
25	chr6:28192600-28193600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:28192600-28193600	Active TSS	Brain Substantia Nigra	brain
27	chr6:28192600-28193600	Active TSS	Colonic Mucosa	Colon
28	chr6:28192600-28193600	Active TSS	Fetal Brain Male	brain
29	chr6:28192600-28193600	Active TSS	Left Ventricle	heart
30	chr6:28192600-28193600	Active TSS	Ovary	ovary
31	chr6:28192600-28193600	Active TSS	Stomach Mucosa	stomach
32	chr6:28192600-28193800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:28192600-28193800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr6:28192600-28193800	Active TSS	Fetal Heart	heart
35	chr6:28192600-28193800	Active TSS	Lung	lung
36	chr6:28192600-28193800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr6:28192600-28193800	Bivalent/Poised TSS	HepG2	liver
38	chr6:28192600-28193800	Active TSS	NHDF-Ad	bronchial
39	chr6:28192600-28194000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:28192600-28194000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:28192600-28194000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:28192600-28194000	Active TSS	Fetal Intestine Large	intestine
43	chr6:28192600-28194000	Active TSS	Fetal Intestine Small	intestine
44	chr6:28192600-28194000	Active TSS	Fetal Muscle Trunk	muscle
45	chr6:28192600-28194200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr6:28192600-28194200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:28192600-28194200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:28192600-28194200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:28192600-28194200	Active TSS	A549	lung
50	chr6:28192600-28194200	Active TSS	HSMMtube	muscle

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