Variant report

Variant	rs74126630
Chromosome Location	chr1:150229191-150229192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:150228950-150230872	HepG2	liver:	n/a	chr1:150229909-150229919 chr1:150229608-150229615
2	MAX	chr1:150228828-150231038	HepG2	liver:	n/a	chr1:150229909-150229919 chr1:150229608-150229615
3	POLR2A	chr1:150228903-150229753	HepG2	liver:	n/a	n/a
4	MXI1	chr1:150229082-150229389	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr1:150229154-150229392	HepG2	liver:	n/a	chr1:150229296-150229307
6	TAF7	chr1:150228928-150229635	H1-hESC	embryonic stem cell:	n/a	n/a
7	SMC3	chr1:150227569-150229282	SK-N-SH	brain:	n/a	chr1:150227927-150227941 chr1:150228463-150228477
8	REST	chr1:150227885-150229414	H1-neurons	neurons:	n/a	chr1:150228972-150228985 chr1:150229203-150229211
9	TBP	chr1:150227831-150229667	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr1:150228993-150229687	H1-hESC	embryonic stem cell:	n/a	chr1:150229296-150229307
11	POLR2A	chr1:150227691-150230927	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr1:150228688-150229833	H1-hESC	embryonic stem cell:	n/a	chr1:150229608-150229615
13	MAX	chr1:150227877-150229779	H1-hESC	embryonic stem cell:	n/a	chr1:150229608-150229615
14	POLR2A	chr1:150228741-150229734	H1-hESC	embryonic stem cell:	n/a	n/a
15	HEY1	chr1:150228941-150229802	HepG2	liver:	n/a	n/a
16	TAF1	chr1:150229043-150229617	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr1:150227597-150229377	HEK293	kidney:	n/a	n/a
18	YY1	chr1:150228693-150229583	H1-hESC	embryonic stem cell:	n/a	chr1:150228800-150228808 chr1:150229522-150229533
19	POLR2A	chr1:150228703-150230673	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr1:150229049-150229683	H1-hESC	embryonic stem cell:	n/a	chr1:150229608-150229615
21	POLR2A	chr1:150228771-150229432	HepG2	liver:	n/a	n/a
22	TAF1	chr1:150228758-150229656	H1-hESC	embryonic stem cell:	n/a	n/a
23	NRF1	chr1:150229069-150229244	HepG2	liver:	n/a	n/a
24	HEY1	chr1:150229109-150229766	HepG2	liver:	n/a	n/a
25	CHD1	chr1:150227871-150229193	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF1	chr1:150229046-150229725	H1-hESC	embryonic stem cell:	n/a	chr1:150229296-150229307
27	JUND	chr1:150227783-150229226	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr1:150229112-150229779	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:150227875-150230542	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3A	chr1:150227779-150231018	H1-hESC	embryonic stem cell:	n/a	chr1:150229504-150229514 chr1:150230143-150230151 chr1:150229505-150229519
31	CTCF	chr1:150229060-150229210	GM12872	blood:	n/a	n/a
32	POLR2A	chr1:150228673-150229786	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr1:150229010-150229704	H1-hESC	embryonic stem cell:	n/a	chr1:150229523-150229533 chr1:150229522-150229534 chr1:150229522-150229534 chr1:150229524-150229533
34	MAX	chr1:150228809-150229856	H1-hESC	embryonic stem cell:	n/a	chr1:150229608-150229615
35	POLR2A	chr1:150228170-150229513	SK-N-MC	brain:	n/a	n/a
36	GTF2F1	chr1:150229155-150229448	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:150229079-150229388	HepG2	liver:	n/a	n/a
38	MYC	chr1:150229135-150229791	HepG2	liver:	n/a	chr1:150229608-150229615
39	CHD2	chr1:150228842-150229651	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150229143-150229193	SK-N-SH_RA	brain:	n/a
2	chr1:150229143-150229193	HCF	heart:	n/a
3	chr1:150229143-150229193	HRE	kidney:	n/a
4	chr1:150229143-150229193	GM19239	blood:	n/a
5	chr1:150229143-150229193	HUVEC	blood vessel:	n/a
6	chr1:150229143-150229193	T-47D	breast:	n/a
7	chr1:150229143-150229193	AG09319	gingival:	n/a
8	chr1:150229143-150229193	ECC-1	luminal epithelium:	n/a
9	chr1:150229143-150229193	HL-60	blood:	n/a
10	chr1:150229143-150229193	NB4	blood:	n/a
11	chr1:150229143-150229193	U87	brain:	n/a
12	chr1:150229143-150229193	NHBE	bronchial:	n/a
13	chr1:150229143-150229193	SK-N-MC	brain:	n/a
14	chr1:150229143-150229193	SAEC	small airway:	n/a
15	chr1:150229143-150229193	HCPEpiC	choroid plexus:	n/a
16	chr1:150229143-150229193	HNPCEpiC	eye:	n/a
17	chr1:150229143-150229193	NHDF-neo	bronchial:	n/a
18	chr1:150229143-150229193	Jurkat	blood:	n/a
19	chr1:150229143-150229193	Hela-S3	cervix:	n/a
20	chr1:150229143-150229193	NT2-D1	testis:	n/a
21	chr1:150229143-150229193	PANC-1	pancreas:	n/a
22	chr1:150229143-150229193	IMR90	lung:	fetal
23	chr1:150229143-150229193	HEK293	kidney:	embryo
24	chr1:150229143-150229193	SK-N-SH	brain:	n/a
25	chr1:150229143-150229193	HMEC	breast:	n/a
26	chr1:150229143-150229193	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:150229143-150229193	ProgFib	skin:	n/a
28	chr1:150229143-150229193	AG04449	skin:	fetal
29	chr1:150229143-150229193	Hepatocyte	liver:	n/a
30	chr1:150229143-150229193	K562	blood:	n/a
31	chr1:150229143-150229193	GM12891	blood:	n/a
32	chr1:150229143-150229193	HRPEpiC	eye:	n/a
33	chr1:150229143-150229193	GM12892	blood:	n/a
34	chr1:150229143-150229193	GM12878	blood:	n/a
35	chr1:150229143-150229193	HAEpiC	amniotic membrane:	n/a
36	chr1:150229143-150229193	ovcar-3	ovarian:	n/a
37	chr1:150229143-150229193	HIPEpiC	eye:	n/a
38	chr1:150229143-150229193	BJ	skin:	n/a
39	chr1:150229143-150229193	AG04450	lung:	fetal
40	chr1:150229143-150229193	LNCaP	prostate:	n/a
41	chr1:150229143-150229193	PrEC	prostate:	n/a
42	chr1:150229143-150229193	MCF-7	breast:	n/a
43	chr1:150229143-150229193	PFSK-1	brain:	n/a
44	chr1:150229143-150229193	BE2_C	brain:	n/a
45	chr1:150229143-150229193	GM06990	blood:	n/a
46	chr1:150229143-150229193	HEEpiC	esophagus:	n/a
47	chr1:150229143-150229193	NH-A	brain:	n/a
48	chr1:150229143-150229193	Caco-2	colon:	n/a
49	chr1:150229143-150229193	SKMC	muscle:	n/a
50	chr1:150229143-150229193	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:150226594..150229990-chr1:150253466..150255722,4	K562	blood:
2	chr1:150213534..150216403-chr1:150227957..150229503,2	K562	blood:
3	chr1:150205585..150209843-chr1:150227901..150231226,5	K562	blood:
4	chr1:150227836..150230192-chr1:150521467..150523893,3	MCF-7	breast:
5	chr1:150206994..150209857-chr1:150226998..150229481,3	MCF-7	breast:
6	chr1:150226746..150229990-chr1:150252728..150255652,4	K562	blood:
7	chr1:150227669..150229259-chr17:57915555..57917857,2	MCF-7	breast:
8	chr1:150205585..150207162-chr1:150228414..150230615,2	K562	blood:
9	chr1:150227212..150229263-chr1:150253177..150254704,26	MCF-7	breast:
10	chr1:150227245..150229462-chr1:150292549..150295483,2	K562	blood:
11	chr1:150228907..150230970-chr1:150300079..150302002,2	MCF-7	breast:
12	chr1:150228680..150231125-chr1:150243640..150246471,2	K562	blood:
13	chr1:150227702..150230865-chr1:150236687..150241657,6	K562	blood:

No data

Variant related genes	Relation type
CA14	TF binding region
ENSG00000238526	TF binding region
CA14	CpG island
ENSG00000238526	CpG island
ENSG00000143401	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000118292	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6681029	1.00[AFR][1000 genomes]
rs6688118	1.00[AFR][1000 genomes]
rs74126633	1.00[AFR][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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv872415	chr1:150210538-150248046	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150227600-150229200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:150227800-150233200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:150228000-150229200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:150228000-150229200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:150228000-150229200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:150228000-150229200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:150228000-150229200	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr1:150228000-150229200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:150228000-150229200	Flanking Active TSS	A549	lung
10	chr1:150228000-150229200	Flanking Active TSS	Hela-S3	cervix
11	chr1:150228000-150229400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:150228000-150229400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:150228000-150229400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:150228000-150229400	Enhancers	HMEC	breast
15	chr1:150228000-150229400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr1:150228000-150229600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr1:150228000-150229600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:150228000-150229800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:150228000-150229800	Enhancers	Fetal Stomach	stomach
20	chr1:150228000-150230000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:150228000-150230000	Enhancers	Fetal Muscle Leg	muscle
22	chr1:150228000-150230200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:150228000-150230600	Enhancers	Placenta	Placenta
24	chr1:150228000-150232000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr1:150228000-150232400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:150228000-150232600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:150228200-150229200	Flanking Active TSS	Fetal Heart	heart
28	chr1:150228200-150229200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:150228200-150229400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:150228200-150229600	Enhancers	Pancreas	Pancrea
31	chr1:150228200-150229800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:150228200-150229800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150228200-150229800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:150228200-150233000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:150228200-150233200	Enhancers	Fetal Lung	lung
36	chr1:150228400-150229200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr1:150228400-150229200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:150228400-150229200	Enhancers	HUVEC	blood vessel
39	chr1:150228400-150229400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr1:150228400-150229400	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:150228400-150229600	Enhancers	HSMM	muscle
42	chr1:150228400-150230000	Enhancers	Liver	Liver
43	chr1:150228400-150230200	Enhancers	Left Ventricle	heart
44	chr1:150228400-150230400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:150228400-150230600	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr1:150228400-150230800	Bivalent Enhancer	Fetal Thymus	thymus
47	chr1:150228400-150232400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr1:150228600-150229200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:150228600-150229200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:150228600-150229200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood

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