Variant report

Variant	rs73025459
Chromosome Location	chr1:173447249-173447250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:208)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:208 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr1:173446346-173447346	GM12878	blood:	n/a	n/a
2	GATA3	chr1:173446741-173447605	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr1:173446965-173447829	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:173446877-173447343	HepG2	liver:	n/a	n/a
6	TEAD4	chr1:173446401-173447766	K562	blood:	n/a	n/a
7	MAX	chr1:173445619-173447723	HCT-116	colon:	n/a	n/a
8	ESR1	chr1:173446879-173447284	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr1:173446855-173447361	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr1:173445829-173448071	MCF10A-Er-Src	breast:	n/a	n/a
11	SIN3AK20	chr1:173445582-173447941	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:173446903-173447292	HepG2	liver:	n/a	n/a
13	YY1	chr1:173445875-173447448	ECC-1	luminal epithelium:	n/a	chr1:173447030-173447041 chr1:173446912-173446923 chr1:173447024-173447038 chr1:173446729-173446743
14	POLR2A	chr1:173445747-173447797	HepG2	liver:	n/a	n/a
15	EGR1	chr1:173447202-173447549	K562	blood:	n/a	chr1:173447357-173447368 chr1:173447358-173447368 chr1:173447357-173447368 chr1:173447358-173447368
16	HA-E2F1	chr1:173445814-173447313	Hela-S3	cervix:	n/a	chr1:173446872-173446881
17	POLR2A	chr1:173446368-173447586	HCT-116	colon:	n/a	n/a
18	POLR2A	chr1:173446383-173447283	A549	lung:	n/a	n/a
19	BACH1	chr1:173447131-173447728	K562	blood:	n/a	n/a
20	MAX	chr1:173446395-173447798	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr1:173445858-173447737	A549	lung:	n/a	n/a
22	MYC	chr1:173446016-173447763	MCF10A-Er-Src	breast:	n/a	n/a
23	HEY1	chr1:173446397-173447729	K562	blood:	n/a	chr1:173447030-173447045
24	POLR2A	chr1:173445799-173447911	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr1:173445805-173447733	Hela-S3	cervix:	n/a	n/a
26	YY1	chr1:173447102-173447671	A549	lung:	n/a	n/a
27	MAX	chr1:173447242-173447680	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr1:173447210-173447512	K562	blood:	n/a	n/a
29	POLR2A	chr1:173446360-173447661	K562	blood:	n/a	n/a
30	CEBPB	chr1:173447218-173447560	K562	blood:	n/a	n/a
31	RCOR1	chr1:173445703-173447685	K562	blood:	n/a	n/a
32	CEBPB	chr1:173447185-173447578	ECC-1	luminal epithelium:	n/a	n/a
33	TCF7L2	chr1:173447210-173447410	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:173446388-173447743	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr1:173446382-173447831	SK-N-SH	brain:	n/a	n/a
36	USF2	chr1:173446638-173447841	Hela-S3	cervix:	n/a	chr1:173446795-173446811
37	CREB1	chr1:173445840-173447659	HepG2	liver:	n/a	n/a
38	ETS1	chr1:173446387-173447697	K562	blood:	n/a	chr1:173446956-173446967
39	TAF1	chr1:173446824-173447532	Hela-S3	cervix:	n/a	n/a
40	MAX	chr1:173445705-173447743	K562	blood:	n/a	n/a
41	MAX	chr1:173445694-173447722	HepG2	liver:	n/a	n/a
42	MYC	chr1:173446086-173447607	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIN3AK20	chr1:173447241-173447529	PFSK-1	brain:	n/a	n/a
44	YY1	chr1:173447241-173447628	K562	blood:	n/a	n/a
45	CEBPB	chr1:173447193-173447553	K562	blood:	n/a	n/a
46	ZKSCAN1	chr1:173444907-173447574	Hela-S3	cervix:	n/a	n/a
47	ARID3A	chr1:173447230-173447952	K562	blood:	n/a	n/a
48	GTF2F1	chr1:173447145-173447532	K562	blood:	n/a	n/a
49	MXI1	chr1:173444253-173448100	IMR90	lung:	n/a	chr1:173447831-173447846
50	RAD21	chr1:173445804-173447631	IMR90	lung:	n/a	chr1:173446725-173446737 chr1:173446727-173446737

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173446508..173448738-chr1:173682879..173684641,2	K562	blood:
2	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
3	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
4	chr1:173446351..173447261-chr15:76628469..76629107,2	Hela-S3	cervix:
5	chr1:173446562..173447403-chr7:75989075..75989632,2	Hela-S3	cervix:
6	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
7	chr1:173445658..173447676-chr1:173831376..173834939,3	K562	blood:
8	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
9	chr1:173445302..173447387-chr1:173760235..173762454,2	MCF-7	breast:
10	chr1:173447238..173449255-chr1:173683141..173684861,2	K562	blood:
11	chr1:173445824..173447952-chr1:174128991..174131620,2	K562	blood:
12	chr1:173447012..173447602-chr20:62168590..62169243,2	Hela-S3	cervix:
13	chr1:173446849..173447550-chr9:140506243..140507023,2	Hela-S3	cervix:
14	chr1:173446451..173447265-chr6:134494988..134495679,2	Hela-S3	cervix:
15	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:
16	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
17	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
18	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
19	chr1:173445270..173447365-chr22:21995394..21997975,2	K562	blood:
20	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
21	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
22	chr1:173445295..173447440-chr17:58469252..58471783,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000117593	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000197070	Chromatin interaction
ENSG00000200674	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000159556	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000118515	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35749242	0.88[AFR][1000 genomes]
rs73025457	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3356084	chr1:173445354-173448202	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173443600-173447400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:173443600-173447800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:173443800-173447600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:173444000-173448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:173444200-173447400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:173444200-173447400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
8	chr1:173444600-173447400	Active TSS	Brain Angular Gyrus	brain
9	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:173445000-173447400	Active TSS	Gastric	stomach
11	chr1:173445000-173448200	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:173445200-173447400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173445200-173447600	Active TSS	Aorta	Aorta
14	chr1:173445200-173447600	Active TSS	Small Intestine	intestine
15	chr1:173445200-173448000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:173445200-173448000	Active TSS	Lung	lung
17	chr1:173445200-173448200	Active TSS	Ovary	ovary
18	chr1:173445200-173449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:173445400-173447400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:173445400-173447400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:173445400-173447400	Active TSS	Colon Smooth Muscle	Colon
22	chr1:173445400-173447400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:173445400-173447400	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:173445400-173447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:173445400-173447600	Active TSS	Fetal Kidney	kidney
26	chr1:173445400-173447600	Active TSS	Placenta Amnion	Placenta Amnion
27	chr1:173445400-173447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:173445400-173447800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:173445400-173447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:173445400-173447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:173445400-173447800	Active TSS	Esophagus	oesophagus
32	chr1:173445400-173448000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:173445400-173448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:173445400-173448000	Active TSS	Left Ventricle	heart
35	chr1:173445600-173447400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:173445600-173447400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:173445600-173447400	Active TSS	Fetal Stomach	stomach
38	chr1:173445600-173447400	Active TSS	Right Ventricle	heart
39	chr1:173445600-173447400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr1:173445600-173447400	Active TSS	GM12878-XiMat	blood
41	chr1:173445600-173447400	Active TSS	K562	blood
42	chr1:173445600-173447400	Active TSS	NHDF-Ad	bronchial
43	chr1:173445600-173447600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:173445600-173447600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:173445600-173447600	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:173445600-173447600	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:173445600-173447800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr1:173445600-173447800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:173445600-173447800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:173445600-173447800	Active TSS	Pancreas	Pancrea

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