Variant report

Variant	rs35899698
Chromosome Location	chr1:173447656-173447657
allele	C/T
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	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr1:173446965-173447829	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr1:173446401-173447766	K562	blood:	n/a	n/a
4	MAX	chr1:173445619-173447723	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:173445829-173448071	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3AK20	chr1:173445582-173447941	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:173445747-173447797	HepG2	liver:	n/a	n/a
8	BACH1	chr1:173447131-173447728	K562	blood:	n/a	n/a
9	MAX	chr1:173446395-173447798	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr1:173445858-173447737	A549	lung:	n/a	n/a
11	MYC	chr1:173446016-173447763	MCF10A-Er-Src	breast:	n/a	n/a
12	HEY1	chr1:173446397-173447729	K562	blood:	n/a	chr1:173447030-173447045
13	POLR2A	chr1:173445799-173447911	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr1:173445805-173447733	Hela-S3	cervix:	n/a	n/a
15	YY1	chr1:173447102-173447671	A549	lung:	n/a	n/a
16	MAX	chr1:173447242-173447680	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:173446360-173447661	K562	blood:	n/a	n/a
18	RCOR1	chr1:173445703-173447685	K562	blood:	n/a	n/a
19	EP300	chr1:173447252-173447744	K562	blood:	n/a	n/a
20	POLR2A	chr1:173446388-173447743	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr1:173446382-173447831	SK-N-SH	brain:	n/a	n/a
22	USF2	chr1:173446638-173447841	Hela-S3	cervix:	n/a	chr1:173446795-173446811
23	CREB1	chr1:173445840-173447659	HepG2	liver:	n/a	n/a
24	ETS1	chr1:173446387-173447697	K562	blood:	n/a	chr1:173446956-173446967
25	MAX	chr1:173445705-173447743	K562	blood:	n/a	n/a
26	MAX	chr1:173445694-173447722	HepG2	liver:	n/a	n/a
27	BACH1	chr1:173447429-173447751	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr1:173447459-173447820	HepG2	liver:	n/a	chr1:173447672-173447686 chr1:173447675-173447685 chr1:173447676-173447685 chr1:173447584-173447599 chr1:173447669-173447689
29	CUX1	chr1:173447400-173447789	K562	blood:	n/a	n/a
30	ARID3A	chr1:173447230-173447952	K562	blood:	n/a	n/a
31	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
32	MXI1	chr1:173444253-173448100	IMR90	lung:	n/a	chr1:173447831-173447846
33	POLR2A	chr1:173445793-173447685	K562	blood:	n/a	n/a
34	MYC	chr1:173445776-173447762	K562	blood:	n/a	n/a
35	RFX5	chr1:173445737-173448083	Hela-S3	cervix:	n/a	n/a
36	BHLHE40	chr1:173444953-173447722	K562	blood:	n/a	chr1:173446795-173446811
37	MAX	chr1:173445726-173447877	A549	lung:	n/a	n/a
38	MYC	chr1:173445960-173447658	K562	blood:	n/a	n/a
39	MAFK	chr1:173447189-173448030	K562	blood:	n/a	chr1:173447672-173447686 chr1:173447675-173447685 chr1:173447676-173447685 chr1:173447584-173447599 chr1:173447669-173447689
40	MAZ	chr1:173445768-173447658	K562	blood:	n/a	n/a
41	MYC	chr1:173445961-173447727	K562	blood:	n/a	n/a
42	CEBPB	chr1:173445639-173447787	Hela-S3	cervix:	n/a	n/a
43	TAL1	chr1:173446053-173447718	K562	blood:	n/a	n/a
44	MXI1	chr1:173446848-173447757	K562	blood:	n/a	n/a
45	MAX	chr1:173445044-173447710	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:173445810-173447899	K562	blood:	n/a	n/a
47	TEAD4	chr1:173446363-173447795	K562	blood:	n/a	n/a
48	STAT3	chr1:173447113-173447730	Hela-S3	cervix:	n/a	n/a
49	MAFF	chr1:173447143-173447795	K562	blood:	n/a	chr1:173447582-173447600 chr1:173447672-173447686
50	SIN3AK20	chr1:173446379-173447694	SK-N-SH	brain:	n/a	n/a

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	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:
10	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
11	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
12	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
13	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
14	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs35224644	1.00[AMR][1000 genomes]
rs35679908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35749242	1.00[AMR][1000 genomes]
rs56868943	0.82[AFR][1000 genomes];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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025457	1.00[AMR][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	chr1:173444000-173448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
4	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:173445000-173448200	Active TSS	Fetal Muscle Trunk	muscle
6	chr1:173445200-173448000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173445200-173448000	Active TSS	Lung	lung
8	chr1:173445200-173448200	Active TSS	Ovary	ovary
9	chr1:173445200-173449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:173445400-173447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:173445400-173447800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:173445400-173447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173445400-173447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:173445400-173447800	Active TSS	Esophagus	oesophagus
15	chr1:173445400-173448000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:173445400-173448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:173445400-173448000	Active TSS	Left Ventricle	heart
18	chr1:173445600-173447800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:173445600-173447800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:173445600-173447800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:173445600-173447800	Active TSS	Pancreas	Pancrea
22	chr1:173445600-173447800	Active TSS	HSMM	muscle
23	chr1:173445600-173447800	Active TSS	NHLF	lung
24	chr1:173445600-173448000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:173445600-173448200	Active TSS	A549	lung
26	chr1:173445600-173448400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:173445600-173448600	Active TSS	Psoas Muscle	Psoas
28	chr1:173445600-173448800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:173445600-173448800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:173445600-173449000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:173445600-173449000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:173445800-173447800	Active TSS	Fetal Intestine Small	intestine
33	chr1:173446400-173447800	Active TSS	HepG2	liver
34	chr1:173446600-173449600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:173446800-173448000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:173446800-173448200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:173446800-173449600	Active TSS	Right Atrium	heart
38	chr1:173447000-173447800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr1:173447000-173447800	Flanking Active TSS	Fetal Brain Male	brain
40	chr1:173447000-173448000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr1:173447000-173448000	Flanking Active TSS	Thymus	Thymus
42	chr1:173447000-173448000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:173447000-173448200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:173447000-173448200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:173447000-173448200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:173447000-173448400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr1:173447000-173448400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr1:173447000-173448800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr1:173447000-173448800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:173447000-173448800	Flanking Active TSS	HMEC	breast

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