Variant report

Variant	rs74101425
Chromosome Location	chr1:93544320-93544321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr1:93544310-93545123	K562	blood:	n/a	n/a
2	POLR2A	chr1:93543983-93545604	HUVEC	blood vessel:	n/a	n/a
3	NFIC	chr1:93544160-93545317	GM12878	blood:	n/a	n/a
4	MAX	chr1:93544307-93545181	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:93544098-93545753	H1-neurons	neurons:	n/a	n/a
6	SIN3AK20	chr1:93544244-93545308	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:93544102-93545528	HUVEC	blood vessel:	n/a	n/a
8	MXI1	chr1:93543964-93545111	GM12878	blood:	n/a	n/a
9	RELA	chr1:93544116-93545291	GM19099	blood:	n/a	n/a
10	TBP	chr1:93544236-93545714	H1-hESC	embryonic stem cell:	n/a	n/a
11	ELK1	chr1:93544311-93545079	GM12878	blood:	n/a	n/a
12	TCF7L2	chr1:93544305-93545094	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr1:93544141-93545654	K562	blood:	n/a	n/a
14	POLR2A	chr1:93544302-93545171	MCF-7	breast:	n/a	n/a
15	EP300	chr1:93544290-93545041	A549	lung:	n/a	n/a
16	KAP1	chr1:93544213-93545239	HEK293	kidney:	n/a	n/a
17	POLR2A	chr1:93543787-93545840	GM12878	blood:	n/a	n/a
18	MYC	chr1:93544309-93544961	MCF10A-Er-Src	breast:	n/a	n/a
19	CHD1	chr1:93543935-93545661	IMR90	lung:	n/a	n/a
20	HCFC1	chr1:93544035-93546400	Hela-S3	cervix:	n/a	n/a
21	CREB1	chr1:93544257-93545136	K562	blood:	n/a	n/a
22	CREB1	chr1:93544317-93545654	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:93544284-93545236	GM12878	blood:	n/a	n/a
24	MAZ	chr1:93544284-93546536	IMR90	lung:	n/a	n/a
25	MYC	chr1:93544307-93545578	K562	blood:	n/a	n/a
26	POLR2A	chr1:93543743-93545389	PFSK-1	brain:	n/a	n/a
27	TEAD4	chr1:93544197-93545769	K562	blood:	n/a	n/a
28	MYC	chr1:93543885-93545702	NB4	blood:	n/a	n/a
29	REST	chr1:93544262-93545155	PFSK-1	brain:	n/a	n/a
30	STAT5A	chr1:93544182-93545731	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:93544245-93545060	HepG2	liver:	n/a	n/a
32	CHD1	chr1:93544043-93546066	H1-hESC	embryonic stem cell:	n/a	n/a
33	NR2F2	chr1:93544243-93545495	K562	blood:	n/a	n/a
34	MTA3	chr1:93544125-93545460	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:93543761-93545710	GM12892	blood:	n/a	n/a
36	JUND	chr1:93544255-93545097	H1-hESC	embryonic stem cell:	n/a	chr1:93544768-93544777
37	TAF1	chr1:93544072-93545643	H1-neurons	neurons:	n/a	n/a
38	REST	chr1:93544136-93545766	H1-neurons	neurons:	n/a	n/a
39	MYC	chr1:93544099-93545029	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:93543734-93545741	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:93544291-93545162	GM12891	blood:	n/a	n/a
42	MAZ	chr1:93544163-93545616	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:93544139-93545542	GM18505	blood:	n/a	n/a
44	MAX	chr1:93544254-93545296	HCT-116	colon:	n/a	n/a
45	JUND	chr1:93544312-93545232	HCT-116	colon:	n/a	chr1:93544768-93544777
46	RELA	chr1:93544212-93545544	GM15510	blood:	n/a	n/a
47	TCF12	chr1:93544306-93545245	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr1:93543862-93545578	GM19099	blood:	n/a	n/a
49	MAX	chr1:93544310-93545080	A549	lung:	n/a	n/a
50	POLR2A	chr1:93544079-93545685	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:93544307-93544357	HUVEC	blood vessel:	n/a
2	chr1:93544307-93544357	CMK	blood:	n/a
3	chr1:93544307-93544357	SK-N-SH	brain:	n/a
4	chr1:93544307-93544357	HepG2	liver:	n/a
5	chr1:93544307-93544357	U87	brain:	n/a
6	chr1:93544307-93544357	RPTEC	kidney:	n/a
7	chr1:93544307-93544357	HMEC	breast:	n/a
8	chr1:93544307-93544357	NHBE	bronchial:	n/a
9	chr1:93544307-93544357	HEK293	kidney:	embryo
10	chr1:93544307-93544357	T-47D	breast:	n/a
11	chr1:93544307-93544357	HRPEpiC	eye:	n/a
12	chr1:93544307-93544357	HCT-116	colon:	n/a
13	chr1:93544307-93544357	NT2-D1	testis:	n/a
14	chr1:93544307-93544357	HRE	kidney:	n/a
15	chr1:93544307-93544357	A549	lung:	n/a
16	chr1:93544307-93544357	ECC-1	luminal epithelium:	n/a
17	chr1:93544307-93544357	ovcar-3	ovarian:	n/a
18	chr1:93544307-93544357	SAEC	small airway:	n/a
19	chr1:93544307-93544357	BJ	skin:	n/a
20	chr1:93544307-93544357	K562	blood:	n/a
21	chr1:93544307-93544357	HAEpiC	amniotic membrane:	n/a
22	chr1:93544307-93544357	Hepatocyte	liver:	n/a
23	chr1:93544307-93544357	Hela-S3	cervix:	n/a
24	chr1:93544307-93544357	MCF-7	breast:	n/a
25	chr1:93544307-93544357	ProgFib	skin:	n/a
26	chr1:93544307-93544357	NB4	blood:	n/a
27	chr1:93544307-93544357	AG04450	lung:	fetal
28	chr1:93544307-93544357	PANC-1	pancreas:	n/a
29	chr1:93544307-93544357	PFSK-1	brain:	n/a
30	chr1:93544307-93544357	NH-A	brain:	n/a
31	chr1:93544307-93544357	SK-N-MC	brain:	n/a
32	chr1:93544307-93544357	GM12878	blood:	n/a
33	chr1:93544307-93544357	GM06990	blood:	n/a
34	chr1:93544307-93544357	LNCaP	prostate:	n/a
35	chr1:93544307-93544357	IMR90	lung:	fetal
36	chr1:93544307-93544357	Jurkat	blood:	n/a
37	chr1:93544307-93544357	GM19239	blood:	n/a
38	chr1:93544307-93544357	PrEC	prostate:	n/a
39	chr1:93544307-93544357	HEEpiC	esophagus:	n/a
40	chr1:93544307-93544357	SKMC	muscle:	n/a
41	chr1:93544307-93544357	HRCEpiC	kidney:	n/a
42	chr1:93544307-93544357	HL-60	blood:	n/a
43	chr1:93544307-93544357	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:93544307-93544357	Caco-2	colon:	n/a
45	chr1:93544307-93544357	HCF	heart:	n/a
46	chr1:93544307-93544357	HCM	heart:	n/a
47	chr1:93544307-93544357	AG10803	skin:	n/a
48	chr1:93544307-93544357	HCPEpiC	choroid plexus:	n/a
49	chr1:93544307-93544357	BE2_C	brain:	n/a
50	chr1:93544307-93544357	MCF10A-Er-Src	breast:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93487223..93489014-chr1:93543210..93544783,2	K562	blood:
2	chr1:45186972..45187847-chr1:93544155..93544946,2	NB4	blood:
3	chr1:93296271..93298475-chr1:93543770..93546056,2	MCF-7	breast:
4	chr1:93542830..93545559-chr20:45984443..45987122,2	MCF-7	breast:
5	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
6	chr1:93543004..93547095-chr1:93643826..93649088,10	K562	blood:
7	chr1:93544165..93544880-chr11:82867978..82868654,2	HCT-116	colon:
8	chr1:93543004..93547588-chr1:93644888..93649088,6	K562	blood:
9	chr1:93296486..93299108-chr1:93543311..93545320,3	K562	blood:
10	chr1:93497881..93500258-chr1:93541751..93544329,2	K562	blood:
11	chr1:93296076..93299049-chr1:93541677..93546567,5	K562	blood:
12	chr1:93544179..93544991-chr2:9695701..9696695,2	NB4	blood:
13	chr1:93543927..93545832-chr1:93912304..93915209,2	K562	blood:

No data

Variant related genes	Relation type
MTF2	TF binding region
MTF2	CpG island
ENSG00000122406	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000165494	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000117500	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6688132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74101447	0.87[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93543600-93544600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:93543800-93544400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:93543800-93544400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr1:93543800-93544400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr1:93543800-93544400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:93543800-93544400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:93543800-93544400	Flanking Active TSS	Fetal Brain Male	brain
8	chr1:93543800-93544400	Flanking Active TSS	Stomach Mucosa	stomach
9	chr1:93543800-93544400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:93543800-93544600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:93543800-93544600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:93543800-93544600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:93543800-93544600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:93543800-93544600	Flanking Active TSS	Dnd41	blood
15	chr1:93543800-93544600	Flanking Active TSS	NHEK	skin
16	chr1:93543800-93545000	Active TSS	Fetal Brain Female	brain
17	chr1:93543800-93545600	Active TSS	Colon Smooth Muscle	Colon
18	chr1:93543800-93546000	Active TSS	Placenta Amnion	Placenta Amnion
19	chr1:93543800-93546200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:93543800-93546400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:93543800-93546600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:93543800-93546800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:93543800-93546800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:93543800-93546800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:93543800-93547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:93543800-93547400	Active TSS	Fetal Kidney	kidney
27	chr1:93544000-93544400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:93544000-93544400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:93544000-93544400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:93544000-93544400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:93544000-93544400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:93544000-93544400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:93544000-93544400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:93544000-93544400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:93544000-93544400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:93544000-93544400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:93544000-93544400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:93544000-93544400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:93544000-93544400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr1:93544000-93544400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:93544000-93544400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr1:93544000-93544400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:93544000-93544400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr1:93544000-93544400	Flanking Active TSS	Fetal Thymus	thymus
45	chr1:93544000-93544400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:93544000-93544400	Active TSS	Right Atrium	heart
47	chr1:93544000-93544400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:93544000-93544400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr1:93544000-93544400	Flanking Active TSS	Thymus	Thymus
50	chr1:93544000-93544400	Flanking Active TSS	HUVEC	blood vessel

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