Variant report

Variant	rs35411491
Chromosome Location	chr15:58358394-58358395
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	POLR2A	chr15:58357645-58359040	K562	blood:	n/a	n/a
2	HEY1	chr15:58357640-58358974	K562	blood:	n/a	chr15:58358050-58358065 chr15:58358166-58358181
3	EGR1	chr15:58357574-58358474	K562	blood:	n/a	chr15:58358376-58358389 chr15:58358120-58358133
4	TEAD4	chr15:58357581-58358918	K562	blood:	n/a	n/a
5	UBTF	chr15:58356671-58358871	K562	blood:	n/a	n/a
6	MAX	chr15:58357158-58358869	K562	blood:	n/a	n/a
7	E2F4	chr15:58357209-58358827	K562	blood:	n/a	chr15:58358094-58358105 chr15:58358480-58358490
8	CTCF	chr15:58358279-58359048	K562	blood:	n/a	chr15:58358678-58358691 chr15:58358986-58358994 chr15:58358676-58358694
9	POLR2A	chr15:58357123-58358920	K562	blood:	n/a	n/a
10	ZNF143	chr15:58357998-58359113	K562	blood:	n/a	chr15:58358018-58358028
11	POLR2A	chr15:58357099-58358871	K562	blood:	n/a	n/a
12	ZBTB7A	chr15:58358024-58358924	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr15:58358390-58358904	HCT-116	colon:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
14	CTCF	chr15:58357960-58359251	SK-N-SH	brain:	n/a	chr15:58358678-58358691 chr15:58358986-58358994 chr15:58358676-58358694
15	MAX	chr15:58357618-58358905	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr15:58357191-58359061	K562	blood:	n/a	n/a
17	RAD21	chr15:58358360-58358950	A549	lung:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
18	RAD21	chr15:58358318-58359112	SK-N-SH	brain:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358356-58358369 chr15:58358985-58358994 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
19	RAD21	chr15:58358316-58359034	HCT-116	colon:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358356-58358369 chr15:58358985-58358994 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
20	EGR1	chr15:58357617-58358522	K562	blood:	n/a	chr15:58358376-58358389 chr15:58358120-58358133
21	PML	chr15:58358364-58358896	K562	blood:	n/a	n/a
22	MAX	chr15:58357187-58358886	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chr15:58358198-58358833	H1-hESC	embryonic stem cell:	n/a	chr15:58358680-58358691 chr15:58358529-58358540 chr15:58358280-58358293
24	POLR2A	chr15:58357072-58358943	K562	blood:	n/a	n/a
25	POLR2A	chr15:58357299-58358868	K562	blood:	n/a	n/a
26	MYC	chr15:58356499-58358940	K562	blood:	n/a	n/a
27	E2F6	chr15:58357757-58358946	H1-hESC	embryonic stem cell:	n/a	chr15:58358480-58358490
28	CTCF	chr15:58358381-58358429	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZBTB7A	chr15:58357669-58358861	K562	blood:	n/a	n/a
30	TBP	chr15:58357061-58359219	K562	blood:	n/a	n/a
31	POLR2A	chr15:58356741-58359187	K562	blood:	n/a	n/a
32	HMGN3	chr15:58357173-58358858	K562	blood:	n/a	n/a
33	CTCF	chr15:58358280-58358430	AG09309	skin:	n/a	n/a
34	E2F6	chr15:58358225-58359000	A549	lung:	n/a	chr15:58358480-58358490
35	E2F6	chr15:58357271-58358922	K562	blood:	n/a	chr15:58358480-58358490
36	CTCF	chr15:58358300-58358450	GM12872	blood:	n/a	n/a
37	POLR2A	chr15:58358361-58358863	HUVEC	blood vessel:	n/a	n/a
38	ZNF143	chr15:58358163-58359136	H1-hESC	embryonic stem cell:	n/a	n/a
39	SUZ12	chr15:58356332-58358890	NT2-D1	testis:	n/a	n/a
40	MAX	chr15:58358246-58359020	A549	lung:	n/a	n/a
41	ELF1	chr15:58357589-58358818	K562	blood:	n/a	chr15:58358271-58358280 chr15:58358016-58358028 chr15:58358715-58358727
42	CTCF	chr15:58358360-58358510	AoAF	blood vessel:	n/a	n/a
43	MYC	chr15:58356500-58359059	K562	blood:	n/a	n/a
44	POLR2A	chr15:58357518-58358851	K562	blood:	n/a	n/a
45	HEY1	chr15:58357603-58358874	K562	blood:	n/a	chr15:58358050-58358065 chr15:58358166-58358181
46	POLR2A	chr15:58357114-58359076	K562	blood:	n/a	n/a
47	ZBTB7A	chr15:58357429-58358820	K562	blood:	n/a	n/a
48	ZBTB7A	chr15:58357981-58358774	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr15:58358340-58358950	H1-hESC	embryonic stem cell:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358356-58358369 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
50	CCNT2	chr15:58356876-58358872	K562	blood:	n/a	chr15:58358513-58358522

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:58358384-58358434	BE2_C	brain:	n/a
2	chr15:58358384-58358434	K562	blood:	n/a
3	chr15:58358384-58358434	MCF10A-Er-Src	breast:	n/a
4	chr15:58358384-58358434	H1-hESC	embryonic stem cell:	embryo
5	chr15:58358384-58358434	PrEC	prostate:	n/a
6	chr15:58358384-58358434	PANC-1	pancreas:	n/a
7	chr15:58358384-58358434	ECC-1	luminal epithelium:	n/a
8	chr15:58358384-58358434	NHBE	bronchial:	n/a
9	chr15:58358384-58358434	HRE	kidney:	n/a
10	chr15:58358384-58358434	AG04450	lung:	fetal
11	chr15:58358384-58358434	Jurkat	blood:	n/a
12	chr15:58358384-58358434	HAEpiC	amniotic membrane:	n/a
13	chr15:58358384-58358434	A549	lung:	n/a
14	chr15:58358384-58358434	SK-N-MC	brain:	n/a
15	chr15:58358384-58358434	Hepatocyte	liver:	n/a
16	chr15:58358384-58358434	IMR90	lung:	fetal
17	chr15:58358384-58358434	HEEpiC	esophagus:	n/a
18	chr15:58358384-58358434	HIPEpiC	eye:	n/a
19	chr15:58358384-58358434	SKMC	muscle:	n/a
20	chr15:58358384-58358434	AG09319	gingival:	n/a
21	chr15:58358384-58358434	HUVEC	blood vessel:	n/a
22	chr15:58358384-58358434	NHDF-neo	bronchial:	n/a
23	chr15:58358384-58358434	HCPEpiC	choroid plexus:	n/a
24	chr15:58358384-58358434	RPTEC	kidney:	n/a
25	chr15:58358384-58358434	AoSMC	blood vessel:	n/a
26	chr15:58358384-58358434	SK-N-SH_RA	brain:	n/a
27	chr15:58358384-58358434	HRPEpiC	eye:	n/a
28	chr15:58358384-58358434	GM12878	blood:	n/a
29	chr15:58358384-58358434	HCT-116	colon:	n/a
30	chr15:58358384-58358434	PFSK-1	brain:	n/a
31	chr15:58358384-58358434	HMEC	breast:	n/a
32	chr15:58358384-58358434	Caco-2	colon:	n/a
33	chr15:58358384-58358434	GM12892	blood:	n/a
34	chr15:58358384-58358434	Hela-S3	cervix:	n/a
35	chr15:58358384-58358434	SK-N-SH	brain:	n/a
36	chr15:58358384-58358434	SAEC	small airway:	n/a
37	chr15:58358384-58358434	NT2-D1	testis:	n/a
38	chr15:58358384-58358434	GM06990	blood:	n/a
39	chr15:58358384-58358434	AG10803	skin:	n/a
40	chr15:58358384-58358434	CMK	blood:	n/a
41	chr15:58358384-58358434	GM19239	blood:	n/a
42	chr15:58358384-58358434	HNPCEpiC	eye:	n/a
43	chr15:58358384-58358434	T-47D	breast:	n/a
44	chr15:58358384-58358434	NH-A	brain:	n/a
45	chr15:58358384-58358434	LNCaP	prostate:	n/a
46	chr15:58358384-58358434	HL-60	blood:	n/a
47	chr15:58358384-58358434	HCM	heart:	n/a
48	chr15:58358384-58358434	ovcar-3	ovarian:	n/a
49	chr15:58358384-58358434	HepG2	liver:	n/a
50	chr15:58358384-58358434	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58306217..58308259-chr15:58356597..58358737,2	K562	blood:
2	chr15:58356974..58359469-chr15:60688408..60691704,3	K562	blood:
3	chr15:58328560..58331091-chr15:58356467..58358929,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ALDH1A2	CpG island
ENSG00000182718	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16939647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939660	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939661	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939714	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939739	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34834301	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35636428	1.00[AMR][1000 genomes]
rs74017101	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018811	1.00[AMR][1000 genomes]
rs74018812	1.00[AMR][1000 genomes]
rs74018813	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv904263	chr15:58340072-58437346	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569596	chr15:58355798-58408763	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3427988	chr15:58356685-58359533	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58353400-58358800	Active TSS	K562	blood
2	chr15:58353600-58359000	Active TSS	Fetal Kidney	kidney
3	chr15:58354200-58358800	Active TSS	Ovary	ovary
4	chr15:58354400-58358800	Active TSS	Right Atrium	heart
5	chr15:58357000-58358800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr15:58357200-58358400	Active TSS	Right Ventricle	heart
7	chr15:58357200-58358600	Bivalent/Poised TSS	Left Ventricle	heart
8	chr15:58357200-58358600	Bivalent/Poised TSS	NHLF	lung
9	chr15:58357200-58358800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:58357200-58358800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:58357200-58358800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:58357200-58358800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:58357200-58358800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr15:58357200-58358800	Flanking Active TSS	Pancreas	Pancrea
15	chr15:58357200-58358800	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr15:58357200-58359000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr15:58357200-58359200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr15:58357400-58358400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr15:58357400-58358400	Flanking Bivalent TSS/Enh	HMEC	breast
20	chr15:58357400-58358600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr15:58357400-58358600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:58357400-58358600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:58357400-58358600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:58357400-58358600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr15:58357400-58358600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:58357400-58358600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:58357400-58358800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:58357400-58358800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:58357400-58358800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
31	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr15:58357400-58358800	Bivalent Enhancer	Fetal Brain Male	brain
34	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr15:58357400-58359000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:58357400-58359000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:58357600-58358600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:58357600-58358600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:58357600-58358600	Bivalent/Poised TSS	Aorta	Aorta
40	chr15:58357600-58358600	Flanking Bivalent TSS/Enh	Thymus	Thymus
41	chr15:58357600-58358800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr15:58357600-58358800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr15:58357600-58358800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:58357600-58358800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:58357600-58358800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr15:58357600-58358800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
47	chr15:58357600-58358800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
48	chr15:58357600-58358800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr15:58357600-58359000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:58357600-58359000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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