Variant report

Variant	rs74130788
Chromosome Location	chr1:190445204-190445205
allele	A/T
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	CEBPB	chr1:190444708-190445343	A549	lung:	n/a	chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005
2	CEBPB	chr1:190444799-190445222	A549	lung:	n/a	chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005
3	CEBPB	chr1:190444837-190445233	MCF-7	breast:	n/a	chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005
4	SIN3A	chr1:190444602-190445312	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:190445116-190445239	MCF-7	breast:	n/a	n/a
6	CEBPB	chr1:190444585-190445212	IMR90	lung:	n/a	chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005
7	CEBPB	chr1:190444781-190445213	MCF-7	breast:	n/a	chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005 chr1:190444996-190445005
8	MYC	chr1:190445135-190445234	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:190445197-190445247	GM06990	blood:	n/a
2	chr1:190445197-190445247	HEK293	kidney:	embryo
3	chr1:190445197-190445247	Jurkat	blood:	n/a
4	chr1:190445197-190445247	GM12891	blood:	n/a
5	chr1:190445197-190445247	HRCEpiC	kidney:	n/a
6	chr1:190445197-190445247	SAEC	small airway:	n/a
7	chr1:190445197-190445247	HUVEC	blood vessel:	n/a
8	chr1:190445197-190445247	H1-hESC	embryonic stem cell:	embryo
9	chr1:190445197-190445247	Hepatocyte	liver:	n/a
10	chr1:190445197-190445247	HCF	heart:	n/a
11	chr1:190445197-190445247	HNPCEpiC	eye:	n/a
12	chr1:190445197-190445247	GM12878	blood:	n/a
13	chr1:190445197-190445247	BE2_C	brain:	n/a
14	chr1:190445197-190445247	K562	blood:	n/a
15	chr1:190445197-190445247	CMK	blood:	n/a
16	chr1:190445197-190445247	AG09309	skin:	n/a
17	chr1:190445197-190445247	A549	lung:	n/a
18	chr1:190445197-190445247	PANC-1	pancreas:	n/a
19	chr1:190445197-190445247	T-47D	breast:	n/a
20	chr1:190445197-190445247	HCM	heart:	n/a
21	chr1:190445197-190445247	NHBE	bronchial:	n/a
22	chr1:190445197-190445247	LNCaP	prostate:	n/a
23	chr1:190445197-190445247	PFSK-1	brain:	n/a
24	chr1:190445197-190445247	MCF10A-Er-Src	breast:	n/a
25	chr1:190445197-190445247	NH-A	brain:	n/a
26	chr1:190445197-190445247	BJ	skin:	n/a
27	chr1:190445197-190445247	HCPEpiC	choroid plexus:	n/a
28	chr1:190445197-190445247	AoSMC	blood vessel:	n/a
29	chr1:190445197-190445247	RPTEC	kidney:	n/a
30	chr1:190445197-190445247	HL-60	blood:	n/a
31	chr1:190445197-190445247	HRPEpiC	eye:	n/a
32	chr1:190445197-190445247	Hela-S3	cervix:	n/a
33	chr1:190445197-190445247	MCF-7	breast:	n/a
34	chr1:190445197-190445247	HAEpiC	amniotic membrane:	n/a
35	chr1:190445197-190445247	SKMC	muscle:	n/a
36	chr1:190445197-190445247	ovcar-3	ovarian:	n/a
37	chr1:190445197-190445247	AG04449	skin:	fetal
38	chr1:190445197-190445247	ProgFib	skin:	n/a
39	chr1:190445197-190445247	HEEpiC	esophagus:	n/a
40	chr1:190445197-190445247	PrEC	prostate:	n/a
41	chr1:190445197-190445247	GM12892	blood:	n/a
42	chr1:190445197-190445247	NHDF-neo	bronchial:	n/a
43	chr1:190445197-190445247	HRE	kidney:	n/a
44	chr1:190445197-190445247	SK-N-SH_RA	brain:	n/a
45	chr1:190445197-190445247	HMEC	breast:	n/a
46	chr1:190445197-190445247	HIPEpiC	eye:	n/a
47	chr1:190445197-190445247	NT2-D1	testis:	n/a
48	chr1:190445197-190445247	HepG2	liver:	n/a
49	chr1:190445197-190445247	HCT-116	colon:	n/a
50	chr1:190445197-190445247	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
ENSG00000241505	TF binding region
ENSG00000237457	TF binding region
BRINP3	TF binding region
BRINP3	CpG island
ENSG00000241505	CpG island
ENSG00000237457	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60548274	0.86[AFR][1000 genomes]
rs61426124	0.86[AFR][1000 genomes]
rs74130770	0.86[AFR][1000 genomes]
rs74130774	0.86[AFR][1000 genomes]
rs74130791	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv872758	chr1:190351677-190510003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872759	chr1:190371671-190446098	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv872760	chr1:190377988-190577336	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv872761	chr1:190389741-190485034	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv872762	chr1:190389741-190510003	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv872763	chr1:190389741-190531642	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv872764	chr1:190399946-190531642	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv872765	chr1:190418653-190464647	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv466750	chr1:190433413-190496007	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv548551	chr1:190433413-190496007	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv466761	chr1:190433413-190545283	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv548552	chr1:190433413-190545283	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190440000-190448800	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:190440200-190448800	Active TSS	Fetal Intestine Large	intestine
3	chr1:190440800-190448600	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr1:190440800-190448800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:190441000-190445800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:190441200-190448600	Active TSS	Fetal Intestine Small	intestine
7	chr1:190441200-190448600	Active TSS	Right Atrium	heart
8	chr1:190441400-190445600	Active TSS	Brain Anterior Caudate	brain
9	chr1:190443000-190445600	Active TSS	Colonic Mucosa	Colon
10	chr1:190443000-190449600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:190443200-190445600	Bivalent/Poised TSS	Fetal Lung	lung
12	chr1:190443200-190445800	Active TSS	Fetal Heart	heart
13	chr1:190443400-190445400	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr1:190443400-190445800	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:190443600-190445400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:190443600-190445400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:190443600-190445400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:190443600-190445400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr1:190443600-190445400	Active TSS	NHLF	lung
20	chr1:190443600-190445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:190443600-190445600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:190443600-190445600	Bivalent/Poised TSS	Small Intestine	intestine
23	chr1:190443600-190446000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:190443800-190445400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:190443800-190445400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:190443800-190445400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:190443800-190445400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:190443800-190445400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:190443800-190445400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:190443800-190445400	Bivalent/Poised TSS	A549	lung
31	chr1:190443800-190445600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr1:190443800-190445800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr1:190444000-190445400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:190444200-190445400	Enhancers	Pancreas	Pancrea
35	chr1:190444400-190445400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:190444400-190445400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr1:190444400-190445400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr1:190444600-190445400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:190444600-190445400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:190444600-190445400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr1:190444600-190445400	Bivalent/Poised TSS	Left Ventricle	heart
42	chr1:190444800-190445400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:190444800-190445400	Active TSS	Fetal Brain Male	brain
44	chr1:190444800-190445400	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr1:190444800-190445400	Bivalent/Poised TSS	NH-A	brain
46	chr1:190444800-190447200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr1:190445000-190445400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:190445000-190445400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:190445000-190445400	Bivalent Enhancer	Colon Smooth Muscle	Colon
50	chr1:190445000-190445600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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