Variant report

Variant	rs74118444
Chromosome Location	chr1:155291263-155291264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155289700-155291469	GM12878	blood:	n/a	n/a
2	CCNT2	chr1:155290501-155291278	K562	blood:	n/a	n/a
3	POLR2A	chr1:155289045-155291721	HUVEC	blood vessel:	n/a	n/a
4	REST	chr1:155290193-155291335	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr1:155289697-155291331	K562	blood:	n/a	n/a
6	POLR2A	chr1:155289217-155291291	H1-hESC	embryonic stem cell:	n/a	n/a
7	MTA3	chr1:155290287-155291691	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:155285762-155295040	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:155289618-155291946	ECC-1	luminal epithelium:	n/a	n/a
10	BCL3	chr1:155290868-155291306	A549	lung:	n/a	n/a
11	POLR2A	chr1:155290379-155291310	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:155289966-155291313	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:155288287-155291476	U87	brain:	n/a	n/a
14	FOSL2	chr1:155290443-155291666	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:155285992-155291727	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:155287588-155292287	HL-60	blood:	n/a	n/a
17	POLR2A	chr1:155287550-155292168	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr1:155286497-155292073	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr1:155289598-155291380	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:155290291-155291263	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:155287495-155292212	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:155290426-155291609	HL-60	blood:	n/a	n/a
23	POLR2A	chr1:155287514-155291951	HUVEC	blood vessel:	n/a	n/a
24	PBX3	chr1:155290800-155291467	A549	lung:	n/a	n/a
25	POLR2A	chr1:155290258-155291887	ProgFib	skin:	n/a	n/a
26	POLR2A	chr1:155290126-155291646	MCF10A-Er-Src	breast:	n/a	n/a
27	SIN3A	chr1:155290560-155291723	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:155291155-155291397	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:155285720-155292259	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr1:155287685-155291891	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:155290547-155291643	HepG2	liver:	n/a	n/a
32	ELF1	chr1:155290393-155291368	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:155289663-155291669	U87	brain:	n/a	n/a
34	CHD2	chr1:155290777-155291559	K562	blood:	n/a	n/a
35	POLR2A	chr1:155289172-155292119	K562	blood:	n/a	n/a
36	MAZ	chr1:155290327-155291539	IMR90	lung:	n/a	n/a
37	POLR2A	chr1:155288607-155291751	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:155289133-155292282	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:155290451-155291508	HCT-116	colon:	n/a	n/a
40	POLR2A	chr1:155291233-155291339	H1-hESC	embryonic stem cell:	n/a	n/a
41	NRF1	chr1:155290170-155291419	SK-N-SH	brain:	n/a	chr1:155290659-155290670 chr1:155290641-155290652
42	POLR2A	chr1:155288293-155291535	U87	brain:	n/a	n/a
43	POLR2A	chr1:155286517-155292132	K562	blood:	n/a	n/a
44	PBX3	chr1:155290427-155291315	A549	lung:	n/a	n/a
45	POLR2A	chr1:155286610-155292157	K562	blood:	n/a	n/a
46	POLR2A	chr1:155289783-155291567	K562	blood:	n/a	n/a
47	STAT5A	chr1:155290435-155291328	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:155291191-155291646	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:155287248-155291990	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr1:155290510-155291279	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155291224-155291274	K562	blood:	n/a
2	chr1:155291224-155291274	Caco-2	colon:	n/a
3	chr1:155291224-155291274	NT2-D1	testis:	n/a
4	chr1:155291224-155291274	AG04450	lung:	fetal
5	chr1:155291224-155291274	HCT-116	colon:	n/a
6	chr1:155291224-155291274	A549	lung:	n/a
7	chr1:155291224-155291274	PANC-1	pancreas:	n/a
8	chr1:155291224-155291274	HUVEC	blood vessel:	n/a
9	chr1:155291224-155291274	T-47D	breast:	n/a
10	chr1:155291224-155291274	AG09319	gingival:	n/a
11	chr1:155291224-155291274	SK-N-SH_RA	brain:	n/a
12	chr1:155291224-155291274	ECC-1	luminal epithelium:	n/a
13	chr1:155291224-155291274	AG09309	skin:	n/a
14	chr1:155291224-155291274	HCF	heart:	n/a
15	chr1:155291224-155291274	GM19239	blood:	n/a
16	chr1:155291224-155291274	ProgFib	skin:	n/a
17	chr1:155291224-155291274	BJ	skin:	n/a
18	chr1:155291224-155291274	HepG2	liver:	n/a
19	chr1:155291224-155291274	HRPEpiC	eye:	n/a
20	chr1:155291224-155291274	AG04449	skin:	fetal
21	chr1:155291224-155291274	HEEpiC	esophagus:	n/a
22	chr1:155291224-155291274	GM12891	blood:	n/a
23	chr1:155291224-155291274	U87	brain:	n/a
24	chr1:155291224-155291274	RPTEC	kidney:	n/a
25	chr1:155291224-155291274	HNPCEpiC	eye:	n/a
26	chr1:155291224-155291274	H1-hESC	embryonic stem cell:	embryo
27	chr1:155291224-155291274	NHDF-neo	bronchial:	n/a
28	chr1:155291224-155291274	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:155291224-155291274	ovcar-3	ovarian:	n/a
30	chr1:155291224-155291274	HEK293	kidney:	embryo
31	chr1:155291224-155291274	NB4	blood:	n/a
32	chr1:155291224-155291274	PrEC	prostate:	n/a
33	chr1:155291224-155291274	Hepatocyte	liver:	n/a
34	chr1:155291224-155291274	MCF-7	breast:	n/a
35	chr1:155291224-155291274	Jurkat	blood:	n/a
36	chr1:155291224-155291274	HMEC	breast:	n/a
37	chr1:155291224-155291274	BE2_C	brain:	n/a
38	chr1:155291224-155291274	HCPEpiC	choroid plexus:	n/a
39	chr1:155291224-155291274	SK-N-MC	brain:	n/a
40	chr1:155291224-155291274	HAEpiC	amniotic membrane:	n/a
41	chr1:155291224-155291274	NH-A	brain:	n/a
42	chr1:155291224-155291274	AG10803	skin:	n/a
43	chr1:155291224-155291274	HIPEpiC	eye:	n/a
44	chr1:155291224-155291274	PFSK-1	brain:	n/a
45	chr1:155291224-155291274	HRE	kidney:	n/a
46	chr1:155291224-155291274	GM12878	blood:	n/a
47	chr1:155291224-155291274	Hela-S3	cervix:	n/a
48	chr1:155291224-155291274	CMK	blood:	n/a
49	chr1:155291224-155291274	GM12892	blood:	n/a
50	chr1:155291224-155291274	SKMC	muscle:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155218380..155223571-chr1:155290636..155294325,6	K562	blood:
2	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
3	chr1:155226986..155228712-chr1:155289329..155291450,2	K562	blood:
4	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
5	chr1:155161236..155164985-chr1:155290580..155295192,7	K562	blood:
6	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
7	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
8	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
9	chr1:155257657..155259293-chr1:155291088..155293098,2	MCF-7	breast:
10	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
11	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
12	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
13	chr1:155290471..155293068-chr1:155560702..155562665,2	MCF-7	breast:
14	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASH1L-1	chr1:155290926-155291335	ENSG00000225855.2
2	lnc-ASH1L-1	chr1:155289950-155291486	ENSG00000225855.2

No data

Variant related genes	Relation type
RUSC1	TF binding region
RUSC1	CpG island
ENSG00000143630	Chromatin interaction
ENSG00000223503	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000176444	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34869594	1.00[AMR][1000 genomes]
rs41264235	1.00[AMR][1000 genomes]
rs57041449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57075171	1.00[AMR][1000 genomes]
rs72997138	1.00[AMR][1000 genomes]
rs72997142	1.00[AMR][1000 genomes]
rs74118437	1.00[AMR][1000 genomes]
rs74118442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118447	1.00[AMR][1000 genomes]
rs74118448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118475	1.00[AMR][1000 genomes]
rs8177962	1.00[AMR][1000 genomes]
rs8177967	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
8	nsv946413	chr1:155286949-155296660	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:155287800-155293200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:155289200-155292000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:155289800-155291400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:155289800-155292000	Transcr. at gene 5' and 3'	NHLF	lung
5	chr1:155290000-155291600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:155290000-155291600	Weak transcription	HSMMtube	muscle
7	chr1:155290000-155292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:155290000-155292600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr1:155290000-155293000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:155290200-155291400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:155290200-155291400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:155290200-155291400	Active TSS	Brain Substantia Nigra	brain
13	chr1:155290200-155291400	Active TSS	Colon Smooth Muscle	Colon
14	chr1:155290200-155291400	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr1:155290200-155291400	Active TSS	Fetal Kidney	kidney
16	chr1:155290200-155291400	Active TSS	Right Atrium	heart
17	chr1:155290200-155291600	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr1:155290200-155291600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:155290200-155291600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:155290200-155291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:155290200-155292400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr1:155290200-155292400	Enhancers	Stomach Mucosa	stomach
23	chr1:155290200-155292600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:155290200-155292600	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr1:155290200-155292600	Flanking Active TSS	NH-A	brain
26	chr1:155290200-155293000	Flanking Active TSS	Colonic Mucosa	Colon
27	chr1:155290200-155293000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr1:155290200-155293200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:155290200-155295000	Active TSS	Aorta	Aorta
30	chr1:155290400-155291400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:155290400-155291400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:155290400-155291400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:155290400-155291400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:155290400-155291400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:155290400-155291400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:155290400-155291400	Weak transcription	Liver	Liver
37	chr1:155290400-155291400	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:155290400-155291400	Active TSS	Left Ventricle	heart
39	chr1:155290400-155291400	Active TSS	Ovary	ovary
40	chr1:155290400-155291400	Active TSS	NHDF-Ad	bronchial
41	chr1:155290400-155291600	Active TSS	Brain Angular Gyrus	brain
42	chr1:155290400-155292200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:155290400-155292200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:155290400-155295400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:155290600-155291400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:155290600-155291400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:155290600-155291400	Active TSS	Fetal Brain Male	brain
48	chr1:155290600-155291400	Flanking Active TSS	Fetal Stomach	stomach
49	chr1:155290600-155291400	Weak transcription	Hela-S3	cervix
50	chr1:155290600-155291400	Weak transcription	HepG2	liver

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