Variant report

Variant	rs35464401
Chromosome Location	chr1:212965067-212965068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:607)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr1:212964706-212965458	MCF-7	breast:	n/a	chr1:212965247-212965257
2	POLR2A	chr1:212964602-212965784	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr1:212964869-212965768	HepG2	liver:	n/a	n/a
4	FOS	chr1:212964702-212965334	MCF10A-Er-Src	breast:	n/a	chr1:212964782-212964796
5	POLR2A	chr1:212964687-212965797	PFSK-1	brain:	n/a	n/a
6	TAF1	chr1:212964810-212965394	A549	lung:	n/a	n/a
7	MAX	chr1:212964765-212965536	SK-N-SH	brain:	n/a	chr1:212965428-212965438
8	CTCF	chr1:212965060-212965210	Caco-2	colon:	n/a	n/a
9	POLR2A	chr1:212964783-212965597	GM12892	blood:	n/a	n/a
10	YY1	chr1:212964973-212965253	K562	blood:	n/a	n/a
11	USF1	chr1:212965024-212965445	K562	blood:	n/a	chr1:212965245-212965261
12	POLR2A	chr1:212964609-212965854	GM12878	blood:	n/a	n/a
13	STAT5A	chr1:212964596-212965919	GM12878	blood:	n/a	chr1:212965570-212965579 chr1:212965571-212965580 chr1:212965568-212965582
14	TAF7	chr1:212964878-212965365	K562	blood:	n/a	n/a
15	CCNT2	chr1:212964849-212965762	K562	blood:	n/a	n/a
16	TAF1	chr1:212964805-212965469	PFSK-1	brain:	n/a	n/a
17	IRF3	chr1:212965012-212965310	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:212964595-212965547	SK-N-SH	brain:	n/a	n/a
19	STAT1	chr1:212964861-212965372	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr1:212964678-212965850	HCT-116	colon:	n/a	n/a
21	YY1	chr1:212964699-212965473	GM12878	blood:	n/a	n/a
22	FOXA2	chr1:212965002-212965692	HepG2	liver:	n/a	n/a
23	JUND	chr1:212965056-212965424	HepG2	liver:	n/a	n/a
24	EBF1	chr1:212964931-212965589	GM12878	blood:	n/a	chr1:212965404-212965414 chr1:212965405-212965414 chr1:212965405-212965414
25	REST	chr1:212964774-212965443	U87	brain:	n/a	n/a
26	RELA	chr1:212964727-212965531	GM19099	blood:	n/a	n/a
27	EP300	chr1:212964741-212965646	ECC-1	luminal epithelium:	n/a	chr1:212965555-212965565 chr1:212965585-212965598
28	RFX5	chr1:212964526-212965631	Hela-S3	cervix:	n/a	n/a
29	CHD1	chr1:212964940-212965688	GM12878	blood:	n/a	n/a
30	HCFC1	chr1:212964274-212965855	Hela-S3	cervix:	n/a	n/a
31	JUND	chr1:212964737-212965656	H1-hESC	embryonic stem cell:	n/a	chr1:212964782-212964796
32	POLR2A	chr1:212964316-212965680	K562	blood:	n/a	n/a
33	POLR2A	chr1:212964533-212965879	SK-N-MC	brain:	n/a	n/a
34	SP1	chr1:212964952-212965405	GM12878	blood:	n/a	chr1:212965119-212965130
35	EP300	chr1:212964936-212965419	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr1:212964646-212965569	MCF10A-Er-Src	breast:	n/a	chr1:212965428-212965438
37	POLR2A	chr1:212964810-212965639	HUVEC	blood vessel:	n/a	n/a
38	ELK1	chr1:212964824-212965384	GM12878	blood:	n/a	n/a
39	FOSL2	chr1:212964973-212965567	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:212964451-212965769	K562	blood:	n/a	n/a
41	POLR2A	chr1:212964449-212965855	GM12891	blood:	n/a	n/a
42	USF1	chr1:212965060-212965537	HepG2	liver:	n/a	chr1:212965245-212965261
43	SIN3AK20	chr1:212964846-212965329	PFSK-1	brain:	n/a	n/a
44	ELF1	chr1:212964963-212965392	A549	lung:	n/a	n/a
45	HNF4G	chr1:212964965-212965654	HepG2	liver:	n/a	chr1:212965315-212965330
46	CEBPB	chr1:212964710-212965484	HepG2	liver:	n/a	n/a
47	CUX1	chr1:212965034-212965433	K562	blood:	n/a	n/a
48	BCL3	chr1:212964910-212965446	GM12878	blood:	n/a	chr1:212965245-212965258 chr1:212965246-212965259
49	REST	chr1:212964720-212965593	H1-neurons	neurons:	n/a	n/a
50	FOXA1	chr1:212964908-212965852	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212965018-212965068	HCM	heart:	n/a
2	chr1:212965051-212965101	SK-N-MC	brain:	n/a
3	chr1:212965018-212965068	CMK	blood:	n/a
4	chr1:212965051-212965101	ovcar-3	ovarian:	n/a
5	chr1:212965018-212965068	AG04449	skin:	fetal
6	chr1:212965051-212965101	AG10803	skin:	n/a
7	chr1:212965051-212965101	HCT-116	colon:	n/a
8	chr1:212965018-212965068	HEK293	kidney:	embryo
9	chr1:212965051-212965101	NH-A	brain:	n/a
10	chr1:212965018-212965068	AG09319	gingival:	n/a
11	chr1:212965051-212965101	ECC-1	luminal epithelium:	n/a
12	chr1:212965018-212965068	SKMC	muscle:	n/a
13	chr1:212965051-212965101	K562	blood:	n/a
14	chr1:212965018-212965068	MCF-7	breast:	n/a
15	chr1:212965051-212965101	MCF-7	breast:	n/a
16	chr1:212965051-212965101	BE2_C	brain:	n/a
17	chr1:212965051-212965101	HRCEpiC	kidney:	n/a
18	chr1:212965018-212965068	GM19239	blood:	n/a
19	chr1:212965051-212965101	HMEC	breast:	n/a
20	chr1:212965018-212965068	HCF	heart:	n/a
21	chr1:212965018-212965068	NHDF-neo	bronchial:	n/a
22	chr1:212965018-212965068	Hepatocyte	liver:	n/a
23	chr1:212965051-212965101	MCF10A-Er-Src	breast:	n/a
24	chr1:212965051-212965101	GM12891	blood:	n/a
25	chr1:212965051-212965101	CMK	blood:	n/a
26	chr1:212965051-212965101	HepG2	liver:	n/a
27	chr1:212965051-212965101	AG09319	gingival:	n/a
28	chr1:212965018-212965068	U87	brain:	n/a
29	chr1:212965018-212965068	ECC-1	luminal epithelium:	n/a
30	chr1:212965051-212965101	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:212965018-212965068	Caco-2	colon:	n/a
32	chr1:212965051-212965101	U87	brain:	n/a
33	chr1:212965018-212965068	GM12878	blood:	n/a
34	chr1:212965018-212965068	SK-N-SH_RA	brain:	n/a
35	chr1:212965018-212965068	AG09309	skin:	n/a
36	chr1:212965051-212965101	HCM	heart:	n/a
37	chr1:212965051-212965101	Jurkat	blood:	n/a
38	chr1:212965051-212965101	SAEC	small airway:	n/a
39	chr1:212965051-212965101	HCF	heart:	n/a
40	chr1:212965051-212965101	AG04450	lung:	fetal
41	chr1:212965051-212965101	HRPEpiC	eye:	n/a
42	chr1:212965051-212965101	HEEpiC	esophagus:	n/a
43	chr1:212965051-212965101	NHDF-neo	bronchial:	n/a
44	chr1:212965051-212965101	HEK293	kidney:	embryo
45	chr1:212965051-212965101	Hela-S3	cervix:	n/a
46	chr1:212965051-212965101	T-47D	breast:	n/a
47	chr1:212965051-212965101	Caco-2	colon:	n/a
48	chr1:212965051-212965101	SKMC	muscle:	n/a
49	chr1:212965018-212965068	H1-hESC	embryonic stem cell:	embryo
50	chr1:212965051-212965101	HNPCEpiC	eye:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212963280..212966676-chr1:213030010..213031803,4	K562	blood:
2	chr1:212964768..212965693-chr6:26032219..26032719,2	Hela-S3	cervix:
3	chr1:212963881..212969695-chr1:212970420..212976060,10	K562	blood:
4	chr1:212964996..212965639-chr9:139440182..139440883,2	Hela-S3	cervix:
5	chr1:212964912..212966461-chr1:212995791..212998620,2	K562	blood:
6	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:
7	chr1:212525375..212527593-chr1:212964320..212966298,2	MCF-7	breast:
8	chr1:212586665..212588349-chr1:212964322..212966191,2	MCF-7	breast:

No data

Variant related genes	Relation type
TATDN3	TF binding region
NSL1	TF binding region
TATDN3	CpG island
NSL1	CpG island
ENSG00000162772	Chromatin interaction
ENSG00000148400	Chromatin interaction
ENSG00000237886	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000065600	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000265181	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000236905	Chromatin interaction
ENSG00000201544	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2456824	1.00[AMR][1000 genomes]
rs2456826	1.00[AMR][1000 genomes]
rs2501843	1.00[AMR][1000 genomes]
rs41300037	1.00[AMR][1000 genomes]
rs6658299	0.86[AFR][1000 genomes]
rs6671764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9429892	1.00[AMR][1000 genomes]
rs9659128	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 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	chr1:212962400-212966000	Active TSS	K562	blood
2	chr1:212963200-212966000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:212963200-212966200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:212963200-212966600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:212963400-212966400	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:212963600-212966400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:212963800-212966000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:212963800-212966000	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:212963800-212966000	Active TSS	A549	lung
10	chr1:212963800-212966200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:212963800-212966200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:212963800-212966200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:212963800-212966400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:212963800-212966400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:212963800-212966600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:212964000-212965200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:212964000-212966000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:212964000-212966000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:212964000-212966000	Active TSS	Hela-S3	cervix
20	chr1:212964000-212966200	Active TSS	Colon Smooth Muscle	Colon
21	chr1:212964000-212966200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:212964200-212965800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:212964200-212965800	Active TSS	NHDF-Ad	bronchial
24	chr1:212964200-212966000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:212964200-212966000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:212964200-212966000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:212964200-212966000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:212964200-212966000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:212964200-212966000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:212964200-212966000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:212964200-212966000	Active TSS	Aorta	Aorta
32	chr1:212964200-212966000	Active TSS	Fetal Intestine Large	intestine
33	chr1:212964200-212966000	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:212964200-212966000	Active TSS	Left Ventricle	heart
35	chr1:212964200-212966000	Active TSS	Dnd41	blood
36	chr1:212964200-212966000	Active TSS	HSMMtube	muscle
37	chr1:212964200-212966000	Active TSS	NHLF	lung
38	chr1:212964200-212966200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:212964200-212966200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:212964200-212966200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212964200-212966200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:212964200-212966200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:212964200-212966200	Active TSS	Fetal Kidney	kidney
44	chr1:212964200-212966200	Active TSS	Ovary	ovary
45	chr1:212964200-212966200	Active TSS	Psoas Muscle	Psoas
46	chr1:212964200-212966200	Active TSS	GM12878-XiMat	blood
47	chr1:212964200-212966400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr1:212964200-212966400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:212964200-212966400	Active TSS	Fetal Brain Female	brain
50	chr1:212964200-212966400	Active TSS	Pancreatic Islets	Pancreatic Islet

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