Variant report

Variant	rs639735
Chromosome Location	chr15:35091844-35091845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr15:35091348-35092085	Hela-S3	cervix:	n/a	chr15:35091757-35091771
2	NFIC	chr15:35091211-35092010	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr15:35091707-35091964	K562	blood:	n/a	n/a
4	TFAP2A	chr15:35091325-35092175	Hela-S3	cervix:	n/a	chr15:35091731-35091745 chr15:35091731-35091745 chr15:35091729-35091744 chr15:35091733-35091744 chr15:35091733-35091744 chr15:35091733-35091744 chr15:35091733-35091744
5	EP300	chr15:35091080-35092477	SK-N-SH	brain:	n/a	chr15:35092091-35092105
6	ZNF263	chr15:35091400-35092138	HEK293-T-REx	kidney:	n/a	chr15:35091926-35091947 chr15:35091793-35091802
7	GTF2F1	chr15:35091285-35092118	Hela-S3	cervix:	n/a	n/a
8	MYC	chr15:35091678-35091974	K562	blood:	n/a	n/a
9	RFX5	chr15:35091269-35092020	Hela-S3	cervix:	n/a	n/a
10	EP300	chr15:35091759-35092020	K562	blood:	n/a	n/a
11	TEAD4	chr15:35091612-35092064	K562	blood:	n/a	n/a
12	REST	chr15:35091399-35091912	SK-N-SH	brain:	n/a	chr15:35091714-35091723 chr15:35091542-35091555
13	RCOR1	chr15:35091259-35092025	Hela-S3	cervix:	n/a	n/a
14	CCNT2	chr15:35091653-35091931	K562	blood:	n/a	n/a
15	TFAP2C	chr15:35091322-35092249	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr15:35091299-35092070	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr15:35091704-35091957	K562	blood:	n/a	n/a
18	MYC	chr15:35091843-35091962	K562	blood:	n/a	n/a
19	UBTF	chr15:35091599-35092004	K562	blood:	n/a	n/a
20	NFIC	chr15:35091274-35091912	ECC-1	luminal epithelium:	n/a	n/a
21	CBX3	chr15:35091590-35091948	K562	blood:	n/a	n/a
22	CHD2	chr15:35091507-35092022	Hela-S3	cervix:	n/a	n/a
23	ZMIZ1	chr15:35091780-35091954	K562	blood:	n/a	n/a
24	REST	chr15:35091625-35091900	K562	blood:	n/a	chr15:35091714-35091723
25	RCOR1	chr15:35091689-35092232	K562	blood:	n/a	n/a
26	NFIC	chr15:35091261-35091867	ECC-1	luminal epithelium:	n/a	n/a
27	TCF7L2	chr15:35091410-35092208	Hela-S3	cervix:	n/a	n/a
28	EP300	chr15:35091442-35091950	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr15:35091464-35091903	SK-N-SH_RA	brain:	n/a	n/a
30	MAZ	chr15:35091636-35092199	K562	blood:	n/a	n/a
31	TAL1	chr15:35091675-35091970	K562	blood:	n/a	chr15:35091757-35091768 chr15:35091759-35091768
32	JUND	chr15:35091682-35092006	K562	blood:	n/a	n/a
33	MAX	chr15:35091528-35091947	Hela-S3	cervix:	n/a	n/a
34	HCFC1	chr15:35091685-35092038	K562	blood:	n/a	n/a
35	MAX	chr15:35091598-35092102	K562	blood:	n/a	n/a
36	BHLHE40	chr15:35091649-35092037	K562	blood:	n/a	n/a
37	ZNF143	chr15:35091771-35091971	K562	blood:	n/a	chr15:35091804-35091822
38	GATA2	chr15:35091302-35092254	SH-SY5Y	brain:	n/a	chr15:35091920-35091929
39	RAD21	chr15:35091486-35091891	SK-N-SH_RA	brain:	n/a	chr15:35091757-35091771
40	NFIC	chr15:35091293-35091885	SK-N-SH	brain:	n/a	n/a
41	UBTF	chr15:35091643-35091976	K562	blood:	n/a	n/a
42	POLR2A	chr15:35091832-35091869	K562	blood:	n/a	n/a
43	CEBPB	chr15:35091512-35092165	Hela-S3	cervix:	n/a	n/a
44	MAX	chr15:35091478-35092002	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:35091802-35091852	SK-N-MC	brain:	n/a
2	chr15:35091802-35091852	SK-N-SH	brain:	n/a
3	chr15:35091802-35091852	NHDF-neo	bronchial:	n/a
4	chr15:35091802-35091852	HRPEpiC	eye:	n/a
5	chr15:35091802-35091852	AoSMC	blood vessel:	n/a
6	chr15:35091802-35091852	Hela-S3	cervix:	n/a
7	chr15:35091802-35091852	MCF10A-Er-Src	breast:	n/a
8	chr15:35091802-35091852	BE2_C	brain:	n/a
9	chr15:35091802-35091852	HEEpiC	esophagus:	n/a
10	chr15:35091802-35091852	NHBE	bronchial:	n/a
11	chr15:35091802-35091852	HRCEpiC	kidney:	n/a
12	chr15:35091802-35091852	HCT-116	colon:	n/a
13	chr15:35091802-35091852	GM19239	blood:	n/a
14	chr15:35091802-35091852	AG09319	gingival:	n/a
15	chr15:35091802-35091852	U87	brain:	n/a
16	chr15:35091802-35091852	AG04449	skin:	fetal
17	chr15:35091802-35091852	AG09309	skin:	n/a
18	chr15:35091802-35091852	SKMC	muscle:	n/a
19	chr15:35091802-35091852	HCM	heart:	n/a
20	chr15:35091802-35091852	ECC-1	luminal epithelium:	n/a
21	chr15:35091802-35091852	H1-hESC	embryonic stem cell:	embryo
22	chr15:35091802-35091852	AG04450	lung:	fetal
23	chr15:35091802-35091852	IMR90	lung:	fetal
24	chr15:35091802-35091852	ovcar-3	ovarian:	n/a
25	chr15:35091802-35091852	Jurkat	blood:	n/a
26	chr15:35091802-35091852	HCPEpiC	choroid plexus:	n/a
27	chr15:35091802-35091852	RPTEC	kidney:	n/a
28	chr15:35091802-35091852	NH-A	brain:	n/a
29	chr15:35091802-35091852	K562	blood:	n/a
30	chr15:35091802-35091852	ProgFib	skin:	n/a
31	chr15:35091802-35091852	NT2-D1	testis:	n/a
32	chr15:35091802-35091852	GM12891	blood:	n/a
33	chr15:35091802-35091852	T-47D	breast:	n/a
34	chr15:35091802-35091852	HIPEpiC	eye:	n/a
35	chr15:35091802-35091852	Caco-2	colon:	n/a
36	chr15:35091802-35091852	HAEpiC	amniotic membrane:	n/a
37	chr15:35091802-35091852	HCF	heart:	n/a
38	chr15:35091802-35091852	BJ	skin:	n/a
39	chr15:35091802-35091852	HNPCEpiC	eye:	n/a
40	chr15:35091802-35091852	AG10803	skin:	n/a
41	chr15:35091802-35091852	MCF-7	breast:	n/a
42	chr15:35091802-35091852	HepG2	liver:	n/a
43	chr15:35091802-35091852	PFSK-1	brain:	n/a
44	chr15:35091802-35091852	GM06990	blood:	n/a
45	chr15:35091802-35091852	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:35091802-35091852	LNCaP	prostate:	n/a
47	chr15:35091802-35091852	NB4	blood:	n/a
48	chr15:35091802-35091852	SK-N-SH_RA	brain:	n/a
49	chr15:35091802-35091852	HUVEC	blood vessel:	n/a
50	chr15:35091802-35091852	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35091621..35093914-chr15:35110145..35112659,2	K562	blood:

No data

Variant related genes	Relation type
ACTC1	TF binding region
ACTC1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12913142	0.81[ASN][1000 genomes]
rs4594215	0.82[CHB][hapmap]
rs479623	0.82[CHB][hapmap]
rs640249	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs641563	0.83[AMR][1000 genomes];0.89[EUR][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	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv569133	chr15:34881304-35142566	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35087600-35095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:35088400-35094000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:35090200-35097000	Enhancers	Fetal Heart	heart
4	chr15:35091000-35092200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:35091200-35092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:35091200-35092000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:35091200-35092000	Enhancers	Psoas Muscle	Psoas
8	chr15:35091200-35092200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr15:35091200-35092200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr15:35091200-35092200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:35091200-35092200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr15:35091200-35092200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr15:35091200-35092200	Flanking Active TSS	Hela-S3	cervix
14	chr15:35091200-35092200	Enhancers	NH-A	brain
15	chr15:35091200-35092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:35091200-35092400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr15:35091200-35092400	Enhancers	Fetal Brain Female	brain
18	chr15:35091200-35092400	Flanking Active TSS	HSMM	muscle
19	chr15:35091200-35092400	Flanking Active TSS	HSMMtube	muscle
20	chr15:35091200-35092800	Enhancers	Fetal Lung	lung
21	chr15:35091200-35093200	Enhancers	NHDF-Ad	bronchial
22	chr15:35091400-35092000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr15:35091400-35092000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:35091400-35092000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:35091400-35092000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:35091400-35092000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:35091400-35092000	Enhancers	Brain Germinal Matrix	brain
28	chr15:35091400-35092000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
29	chr15:35091400-35092000	Enhancers	Lung	lung
30	chr15:35091400-35092000	Enhancers	A549	lung
31	chr15:35091400-35092200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr15:35091400-35092200	Enhancers	Fetal Brain Male	brain
33	chr15:35091400-35092200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr15:35091400-35092400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:35091400-35092400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr15:35091400-35092400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:35091400-35092400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:35091400-35093000	Enhancers	Placenta	Placenta
39	chr15:35091400-35093200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:35091400-35094400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:35091600-35092000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:35091600-35092000	Enhancers	Aorta	Aorta
43	chr15:35091600-35092000	Enhancers	Esophagus	oesophagus
44	chr15:35091600-35092000	Enhancers	Stomach Smooth Muscle	stomach
45	chr15:35091600-35092000	Enhancers	Osteobl	bone
46	chr15:35091600-35092200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:35091600-35092200	Enhancers	Brain Cingulate Gyrus	brain
48	chr15:35091600-35092200	Enhancers	Ovary	ovary
49	chr15:35091600-35092200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr15:35091600-35092200	Flanking Active TSS	K562	blood

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