Variant report

Variant	rs35749242
Chromosome Location	chr1:173447548-173447549
allele	A/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	GATA3	chr1:173446741-173447605	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:173446965-173447829	MCF10A-Er-Src	breast:	n/a	n/a
4	TEAD4	chr1:173446401-173447766	K562	blood:	n/a	n/a
5	MAX	chr1:173445619-173447723	HCT-116	colon:	n/a	n/a
6	MYC	chr1:173447376-173447558	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:173445829-173448071	MCF10A-Er-Src	breast:	n/a	n/a
8	SIN3AK20	chr1:173445582-173447941	MCF-7	breast:	n/a	n/a
9	POLR2A	chr1:173445747-173447797	HepG2	liver:	n/a	n/a
10	EGR1	chr1:173447202-173447549	K562	blood:	n/a	chr1:173447357-173447368 chr1:173447358-173447368 chr1:173447357-173447368 chr1:173447358-173447368
11	POLR2A	chr1:173446368-173447586	HCT-116	colon:	n/a	n/a
12	CREB1	chr1:173447291-173447654	A549	lung:	n/a	n/a
13	BACH1	chr1:173447131-173447728	K562	blood:	n/a	n/a
14	MAX	chr1:173446395-173447798	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr1:173445858-173447737	A549	lung:	n/a	n/a
16	MYC	chr1:173446016-173447763	MCF10A-Er-Src	breast:	n/a	n/a
17	HEY1	chr1:173446397-173447729	K562	blood:	n/a	chr1:173447030-173447045
18	POLR2A	chr1:173445799-173447911	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr1:173445805-173447733	Hela-S3	cervix:	n/a	n/a
20	YY1	chr1:173447102-173447671	A549	lung:	n/a	n/a
21	MAX	chr1:173447242-173447680	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:173446360-173447661	K562	blood:	n/a	n/a
23	CEBPB	chr1:173447218-173447560	K562	blood:	n/a	n/a
24	RCOR1	chr1:173445703-173447685	K562	blood:	n/a	n/a
25	CEBPB	chr1:173447185-173447578	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr1:173447252-173447744	K562	blood:	n/a	n/a
27	POLR2A	chr1:173446388-173447743	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:173446382-173447831	SK-N-SH	brain:	n/a	n/a
29	RFX5	chr1:173447399-173447585	K562	blood:	n/a	n/a
30	USF2	chr1:173446638-173447841	Hela-S3	cervix:	n/a	chr1:173446795-173446811
31	CREB1	chr1:173445840-173447659	HepG2	liver:	n/a	n/a
32	ETS1	chr1:173446387-173447697	K562	blood:	n/a	chr1:173446956-173446967
33	MAX	chr1:173445705-173447743	K562	blood:	n/a	n/a
34	MAX	chr1:173445694-173447722	HepG2	liver:	n/a	n/a
35	MYC	chr1:173446086-173447607	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:173447337-173447576	GM12878	blood:	n/a	n/a
37	YY1	chr1:173447241-173447628	K562	blood:	n/a	n/a
38	BACH1	chr1:173447429-173447751	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr1:173447459-173447820	HepG2	liver:	n/a	chr1:173447672-173447686 chr1:173447675-173447685 chr1:173447676-173447685 chr1:173447584-173447599 chr1:173447669-173447689
40	CUX1	chr1:173447400-173447789	K562	blood:	n/a	n/a
41	CEBPB	chr1:173447193-173447553	K562	blood:	n/a	n/a
42	ZKSCAN1	chr1:173444907-173447574	Hela-S3	cervix:	n/a	n/a
43	ARID3A	chr1:173447230-173447952	K562	blood:	n/a	n/a
44	MAFK	chr1:173447383-173447736	H1-hESC	embryonic stem cell:	n/a	chr1:173447672-173447686 chr1:173447675-173447685 chr1:173447676-173447685 chr1:173447584-173447599 chr1:173447669-173447689
45	MXI1	chr1:173444253-173448100	IMR90	lung:	n/a	chr1:173447831-173447846
46	RAD21	chr1:173445804-173447631	IMR90	lung:	n/a	chr1:173446725-173446737 chr1:173446727-173446737
47	POLR2A	chr1:173445793-173447685	K562	blood:	n/a	n/a
48	MYC	chr1:173445776-173447762	K562	blood:	n/a	n/a
49	RFX5	chr1:173445737-173448083	Hela-S3	cervix:	n/a	n/a
50	BHLHE40	chr1:173444953-173447722	K562	blood:	n/a	chr1:173446795-173446811

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	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
5	chr1:173445658..173447676-chr1:173831376..173834939,3	K562	blood:
6	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
7	chr1:173447238..173449255-chr1:173683141..173684861,2	K562	blood:
8	chr1:173445824..173447952-chr1:174128991..174131620,2	K562	blood:
9	chr1:173447012..173447602-chr20:62168590..62169243,2	Hela-S3	cervix:
10	chr1:173446849..173447550-chr9:140506243..140507023,2	Hela-S3	cervix:
11	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:
12	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
13	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
14	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
15	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
16	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000208317	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000197070	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000224977	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35224644	1.00[AMR][1000 genomes]
rs35679908	1.00[AMR][1000 genomes]
rs35899698	1.00[AMR][1000 genomes]
rs56868943	1.00[AMR][1000 genomes]
rs57832781	1.00[AMR][1000 genomes]
rs58307514	1.00[AMR][1000 genomes]
rs58425101	1.00[AMR][1000 genomes]
rs61075186	1.00[AMR][1000 genomes]
rs6667110	1.00[AMR][1000 genomes]
rs6691086	1.00[AMR][1000 genomes]
rs73023584	1.00[AMR][1000 genomes]
rs73025454	1.00[AMR][1000 genomes]
rs73025457	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025459	0.88[AFR][1000 genomes]
rs73025474	1.00[AMR][1000 genomes]
rs73025495	1.00[AMR][1000 genomes]
rs73027303	1.00[AMR][1000 genomes]
rs73027364	1.00[AMR][1000 genomes]
rs73027398	1.00[AMR][1000 genomes]
rs73029321	1.00[AMR][1000 genomes]
rs73035116	1.00[AMR][1000 genomes]
rs73041128	1.00[AMR][1000 genomes]
rs7539992	1.00[AMR][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	chr1:173443600-173447800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:173443800-173447600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:173444000-173448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
5	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:173445000-173448200	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:173445200-173447600	Active TSS	Aorta	Aorta
8	chr1:173445200-173447600	Active TSS	Small Intestine	intestine
9	chr1:173445200-173448000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:173445200-173448000	Active TSS	Lung	lung
11	chr1:173445200-173448200	Active TSS	Ovary	ovary
12	chr1:173445200-173449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:173445400-173447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:173445400-173447600	Active TSS	Fetal Kidney	kidney
15	chr1:173445400-173447600	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:173445400-173447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:173445400-173447800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:173445400-173447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:173445400-173447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:173445400-173447800	Active TSS	Esophagus	oesophagus
21	chr1:173445400-173448000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:173445400-173448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:173445400-173448000	Active TSS	Left Ventricle	heart
24	chr1:173445600-173447600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:173445600-173447600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:173445600-173447600	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:173445600-173447600	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:173445600-173447800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:173445600-173447800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:173445600-173447800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:173445600-173447800	Active TSS	Pancreas	Pancrea
32	chr1:173445600-173447800	Active TSS	HSMM	muscle
33	chr1:173445600-173447800	Active TSS	NHLF	lung
34	chr1:173445600-173448000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:173445600-173448200	Active TSS	A549	lung
36	chr1:173445600-173448400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:173445600-173448600	Active TSS	Psoas Muscle	Psoas
38	chr1:173445600-173448800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:173445600-173448800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:173445600-173449000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:173445600-173449000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:173445800-173447600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:173445800-173447600	Active TSS	Fetal Intestine Large	intestine
44	chr1:173445800-173447600	Active TSS	Stomach Mucosa	stomach
45	chr1:173445800-173447600	Active TSS	Hela-S3	cervix
46	chr1:173445800-173447800	Active TSS	Fetal Intestine Small	intestine
47	chr1:173446000-173447600	Active TSS	NHEK	skin
48	chr1:173446400-173447800	Active TSS	HepG2	liver
49	chr1:173446600-173447600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:173446600-173447600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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