Variant report

Variant	rs2635996
Chromosome Location	chr1:114302087-114302088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:401)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:114301417-114302760	SK-N-MC	brain:	n/a	n/a
2	RUNX3	chr1:114301297-114302857	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:114301459-114302901	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:114301392-114302812	GM19099	blood:	n/a	n/a
5	STAT5A	chr1:114301527-114302769	GM12878	blood:	n/a	chr1:114302590-114302602
6	FOS	chr1:114301959-114302248	MCF10A-Er-Src	breast:	n/a	chr1:114302092-114302103
7	CEBPB	chr1:114301874-114302410	Hela-S3	cervix:	n/a	n/a
8	TBP	chr1:114301856-114302779	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:114301806-114302881	HL-60	blood:	n/a	n/a
10	MAZ	chr1:114301385-114302819	GM12878	blood:	n/a	n/a
11	SP1	chr1:114301897-114302422	A549	lung:	n/a	chr1:114302188-114302200 chr1:114302188-114302200 chr1:114302189-114302198
12	CCNT2	chr1:114301360-114303041	K562	blood:	n/a	n/a
13	POLR2A	chr1:114301797-114302674	SK-N-SH	brain:	n/a	n/a
14	JUND	chr1:114301964-114302198	HepG2	liver:	n/a	chr1:114302092-114302103
15	HEY1	chr1:114301715-114302718	HepG2	liver:	n/a	chr1:114302189-114302204
16	ZNF143	chr1:114301605-114302766	GM12878	blood:	n/a	n/a
17	RCOR1	chr1:114301801-114302091	HepG2	liver:	n/a	n/a
18	SMARCC2	chr1:114301321-114302690	Hela-S3	cervix:	n/a	n/a
19	MAFK	chr1:114301991-114302166	HepG2	liver:	n/a	n/a
20	FOXM1	chr1:114302083-114302729	GM12878	blood:	n/a	n/a
21	ZNF384	chr1:114300633-114303120	K562	blood:	n/a	n/a
22	KAP1	chr1:114301776-114303158	HEK293	kidney:	n/a	chr1:114302936-114302944
23	POLR2A	chr1:114301463-114302772	GM12892	blood:	n/a	n/a
24	GABPA	chr1:114301898-114302364	K562	blood:	n/a	chr1:114302159-114302166
25	MAX	chr1:114300833-114303033	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:114301233-114302900	HUVEC	blood vessel:	n/a	n/a
27	SPI1	chr1:114301702-114302825	GM12878	blood:	n/a	chr1:114302592-114302599 chr1:114302156-114302169 chr1:114302655-114302668
28	POLR2A	chr1:114301460-114302486	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr1:114301381-114302981	K562	blood:	n/a	n/a
30	MAX	chr1:114301967-114302699	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr1:114301759-114302736	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr1:114302072-114302267	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:114302080-114302230	SK-N-SH_RA	brain:	n/a	n/a
34	JUND	chr1:114301957-114302589	HepG2	liver:	n/a	chr1:114302092-114302103
35	MTA3	chr1:114301157-114303151	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:114301468-114302773	NB4	blood:	n/a	n/a
37	GATA1	chr1:114301701-114303283	PBDE	blood:	n/a	n/a
38	NR2F2	chr1:114301529-114302851	HepG2	liver:	n/a	n/a
39	RAD21	chr1:114301971-114302299	K562	blood:	n/a	chr1:114302135-114302148
40	POLR2A	chr1:114301780-114302776	K562	blood:	n/a	n/a
41	CHD2	chr1:114301316-114302658	Hela-S3	cervix:	n/a	n/a
42	SP4	chr1:114302019-114302523	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:114301368-114302792	GM12878	blood:	n/a	n/a
44	TAF1	chr1:114301863-114302359	GM12892	blood:	n/a	n/a
45	POLR2A	chr1:114301471-114302505	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr1:114301261-114302812	K562	blood:	n/a	n/a
47	POLR2A	chr1:114301838-114302675	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:114301358-114302924	ProgFib	skin:	n/a	n/a
49	ZNF143	chr1:114302071-114302256	Hela-S3	cervix:	n/a	n/a
50	PML	chr1:114301419-114302719	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:114302082-114302132	H1-hESC	embryonic stem cell:	embryo
2	chr1:114302082-114302132	HEEpiC	esophagus:	n/a
3	chr1:114302082-114302132	NHDF-neo	bronchial:	n/a
4	chr1:114302082-114302132	ECC-1	luminal epithelium:	n/a
5	chr1:114302082-114302132	Caco-2	colon:	n/a
6	chr1:114302082-114302132	IMR90	lung:	fetal
7	chr1:114302082-114302132	Hela-S3	cervix:	n/a
8	chr1:114302082-114302132	Jurkat	blood:	n/a
9	chr1:114302082-114302132	MCF-7	breast:	n/a
10	chr1:114302082-114302132	ovcar-3	ovarian:	n/a
11	chr1:114302082-114302132	HRPEpiC	eye:	n/a
12	chr1:114302082-114302132	GM19239	blood:	n/a
13	chr1:114302082-114302132	AG04449	skin:	fetal
14	chr1:114302082-114302132	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:114302082-114302132	SAEC	small airway:	n/a
16	chr1:114302082-114302132	HIPEpiC	eye:	n/a
17	chr1:114302082-114302132	HNPCEpiC	eye:	n/a
18	chr1:114302082-114302132	AG10803	skin:	n/a
19	chr1:114302082-114302132	HCT-116	colon:	n/a
20	chr1:114302082-114302132	ProgFib	skin:	n/a
21	chr1:114302082-114302132	SK-N-SH	brain:	n/a
22	chr1:114302082-114302132	AG09309	skin:	n/a
23	chr1:114302082-114302132	PrEC	prostate:	n/a
24	chr1:114302082-114302132	HCPEpiC	choroid plexus:	n/a
25	chr1:114302082-114302132	BJ	skin:	n/a
26	chr1:114302082-114302132	HUVEC	blood vessel:	n/a
27	chr1:114302082-114302132	HepG2	liver:	n/a
28	chr1:114302082-114302132	PANC-1	pancreas:	n/a
29	chr1:114302082-114302132	LNCaP	prostate:	n/a
30	chr1:114302082-114302132	NH-A	brain:	n/a
31	chr1:114302082-114302132	BE2_C	brain:	n/a
32	chr1:114302082-114302132	NT2-D1	testis:	n/a
33	chr1:114302082-114302132	K562	blood:	n/a
34	chr1:114302082-114302132	HL-60	blood:	n/a
35	chr1:114302082-114302132	Hepatocyte	liver:	n/a
36	chr1:114302082-114302132	CMK	blood:	n/a
37	chr1:114302082-114302132	MCF10A-Er-Src	breast:	n/a
38	chr1:114302082-114302132	HCF	heart:	n/a
39	chr1:114302082-114302132	HRE	kidney:	n/a
40	chr1:114302082-114302132	SK-N-MC	brain:	n/a
41	chr1:114302082-114302132	AG09319	gingival:	n/a
42	chr1:114302082-114302132	AoSMC	blood vessel:	n/a
43	chr1:114302082-114302132	HMEC	breast:	n/a
44	chr1:114302082-114302132	AG04450	lung:	fetal
45	chr1:114302082-114302132	RPTEC	kidney:	n/a
46	chr1:114302082-114302132	HCM	heart:	n/a
47	chr1:114302082-114302132	GM06990	blood:	n/a
48	chr1:114302082-114302132	NB4	blood:	n/a
49	chr1:114302082-114302132	HAEpiC	amniotic membrane:	n/a
50	chr1:114302082-114302132	HRCEpiC	kidney:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114300393..114302237-chr1:114446494..114449478,3	K562	blood:
2	chr1:114301482..114302406-chr1:153939668..153940228,2	Hela-S3	cervix:
3	chr1:114301552..114304210-chr11:59521950..59524919,2	MCF-7	breast:
4	chr1:114301575..114302482-chr1:114447707..114448378,2	MCF-7	breast:
5	chr1:114300040..114303354-chr1:114351974..114356702,9	MCF-7	breast:
6	chr1:114280513..114282133-chr1:114300491..114302186,2	K562	blood:
7	chr1:114299428..114302166-chr1:114446012..114448303,2	K562	blood:
8	chr1:114300920..114303595-chr20:48598216..48600704,4	MCF-7	breast:
9	chr1:114301057..114304105-chr1:114310097..114314111,4	MCF-7	breast:
10	chr1:114298167..114305255-chr1:114351008..114356451,27	MCF-7	breast:
11	chr1:114300422..114303875-chr1:114445198..114448512,7	MCF-7	breast:
12	chr1:114301163..114303418-chr1:114471834..114473459,2	K562	blood:
13	chr1:114299507..114303267-chr1:114354438..114356409,4	K562	blood:
14	chr1:113160444..113162018-chr1:114299842..114302657,2	K562	blood:
15	chr1:114302079..114302582-chr13:37575189..37575689,2	Hela-S3	cervix:
16	chr1:114300956..114303148-chr11:59521456..59522999,2	MCF-7	breast:
17	chr1:114300712..114302958-chr1:114446093..114449659,3	MCF-7	breast:
18	chr1:114300189..114305139-chr20:48598182..48603040,8	MCF-7	breast:
19	chr1:114300069..114302951-chr1:114469985..114474355,4	MCF-7	breast:
20	chr1:114301712..114302501-chr8:21998427..21999348,2	NB4	blood:
21	chr1:45187251..45187920-chr1:114302067..114302683,2	NB4	blood:
22	chr1:114299235..114302663-chr1:114470274..114473459,3	K562	blood:
23	chr1:11968995..11970627-chr1:114300900..114302572,2	MCF-7	breast:

No data

Variant related genes	Relation type
PHTF1	TF binding region
PHTF1	CpG island
ENSG00000007341	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000168476	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000124216	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1146181	0.85[AFR][1000 genomes]
rs1230636	0.85[AFR][1000 genomes]
rs1230641	0.85[AFR][1000 genomes]
rs1230643	0.85[AFR][1000 genomes]
rs1230648	0.82[AFR][1000 genomes]
rs1230650	0.85[AFR][1000 genomes]
rs1230652	0.85[AFR][1000 genomes]
rs1230653	0.82[AFR][1000 genomes]
rs1230654	0.85[AFR][1000 genomes]
rs1230657	0.85[AFR][1000 genomes]
rs1230660	0.85[AFR][1000 genomes]
rs1230664	0.85[AFR][1000 genomes]
rs2636009	0.85[AFR][1000 genomes]
rs2757510	0.85[AFR][1000 genomes]
rs2757514	0.85[AFR][1000 genomes]
rs2797406	0.85[AFR][1000 genomes]
rs2797407	0.85[AFR][1000 genomes]
rs2797413	0.85[AFR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr1:114300000-114302200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:114300000-114302200	Active TSS	Rectal Smooth Muscle	rectum
3	chr1:114300000-114302400	Active TSS	GM12878-XiMat	blood
4	chr1:114300000-114302600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:114300000-114302600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:114300000-114302600	Active TSS	Psoas Muscle	Psoas
7	chr1:114300000-114302800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:114300000-114302800	Active TSS	Right Ventricle	heart
9	chr1:114300000-114303000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:114300200-114302400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:114300200-114302400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr1:114300200-114302400	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:114300200-114302400	Active TSS	Fetal Muscle Leg	muscle
14	chr1:114300200-114302400	Active TSS	NHLF	lung
15	chr1:114300200-114302600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:114300200-114302600	Active TSS	Brain Angular Gyrus	brain
17	chr1:114300200-114302600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr1:114300200-114302600	Active TSS	Stomach Smooth Muscle	stomach
19	chr1:114300200-114302600	Active TSS	A549	lung
20	chr1:114300200-114302800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:114300200-114302800	Active TSS	Right Atrium	heart
22	chr1:114300200-114303000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr1:114300200-114303000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:114300400-114302200	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:114300400-114302200	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr1:114300400-114302200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:114300400-114302200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:114300400-114302200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:114300400-114302200	Active TSS	Hela-S3	cervix
30	chr1:114300400-114302200	Active TSS	HMEC	breast
31	chr1:114300400-114302200	Active TSS	NH-A	brain
32	chr1:114300400-114302400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:114300400-114302400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:114300400-114302400	Active TSS	Brain Germinal Matrix	brain
35	chr1:114300400-114302400	Active TSS	Brain Hippocampus Middle	brain
36	chr1:114300400-114302400	Active TSS	HSMMtube	muscle
37	chr1:114300400-114302400	Active TSS	K562	blood
38	chr1:114300400-114302600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:114300400-114302600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:114300400-114302600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:114300400-114302600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:114300400-114302600	Active TSS	Fetal Intestine Small	intestine
43	chr1:114300400-114302600	Active TSS	Fetal Kidney	kidney
44	chr1:114300400-114302600	Active TSS	Fetal Lung	lung
45	chr1:114300400-114302600	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:114300400-114302600	Active TSS	Fetal Stomach	stomach
47	chr1:114300400-114302600	Active TSS	NHDF-Ad	bronchial
48	chr1:114300400-114302800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:114300400-114302800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:114300400-114302800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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