Variant report

Variant	rs41268532
Chromosome Location	chr1:151138355-151138356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:513)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr1:151138289-151138996	GM12878	blood:	n/a	n/a
2	SP1	chr1:151137604-151138852	H1-hESC	embryonic stem cell:	n/a	chr1:151137859-151137868 chr1:151137859-151137873 chr1:151137838-151137852 chr1:151137860-151137869
3	ZBTB33	chr1:151138256-151138723	GM12878	blood:	n/a	n/a
4	CEBPB	chr1:151138305-151138799	A549	lung:	n/a	n/a
5	IRF4	chr1:151138204-151138804	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr1:151138162-151138716	PFSK-1	brain:	n/a	n/a
7	ELK4	chr1:151138157-151139035	Hela-S3	cervix:	n/a	chr1:151138498-151138509 chr1:151138517-151138528
8	CEBPB	chr1:151137931-151138901	GM12878	blood:	n/a	n/a
9	TEAD4	chr1:151138155-151138800	A549	lung:	n/a	n/a
10	POLR2A	chr1:151138147-151138778	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF1	chr1:151138235-151138662	A549	lung:	n/a	n/a
12	POLR2A	chr1:151138014-151139597	GM12878	blood:	n/a	n/a
13	MAX	chr1:151138248-151138713	K562	blood:	n/a	n/a
14	POLR2A	chr1:151137544-151138829	SK-N-SH	brain:	n/a	n/a
15	GABPA	chr1:151137953-151139029	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr1:151138121-151138836	HCT-116	colon:	n/a	n/a
17	TEAD4	chr1:151137835-151138811	HepG2	liver:	n/a	n/a
18	STAT1	chr1:151138124-151138809	GM12878	blood:	n/a	n/a
19	PAX5	chr1:151138186-151138747	GM12878	blood:	n/a	n/a
20	CHD2	chr1:151137774-151138705	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFF	chr1:151137994-151138735	K562	blood:	n/a	n/a
22	MAX	chr1:151138214-151138823	SK-N-SH	brain:	n/a	n/a
23	USF2	chr1:151138223-151138884	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:151137840-151139328	A549	lung:	n/a	n/a
25	ZNF143	chr1:151137835-151138881	GM12878	blood:	n/a	chr1:151138379-151138397
26	POLR2A	chr1:151138031-151139249	U87	brain:	n/a	n/a
27	ZBTB33	chr1:151138317-151138631	HCT-116	colon:	n/a	n/a
28	SRF	chr1:151138311-151138589	GM12878	blood:	n/a	n/a
29	CREB1	chr1:151138055-151138822	HepG2	liver:	n/a	n/a
30	TAF1	chr1:151138256-151138801	K562	blood:	n/a	n/a
31	USF1	chr1:151138328-151138652	SK-N-SH_RA	brain:	n/a	n/a
32	SPI1	chr1:151138308-151138727	K562	blood:	n/a	n/a
33	STAT5A	chr1:151137929-151138780	GM12878	blood:	n/a	n/a
34	STAT5A	chr1:151138109-151138905	K562	blood:	n/a	n/a
35	POLR2A	chr1:151137756-151139217	MCF10A-Er-Src	breast:	n/a	n/a
36	ELF1	chr1:151137845-151139288	HCT-116	colon:	n/a	n/a
37	TCF12	chr1:151138141-151138905	A549	lung:	n/a	n/a
38	SIX5	chr1:151137848-151138771	H1-hESC	embryonic stem cell:	n/a	chr1:151138377-151138391
39	REST	chr1:151138154-151138769	PFSK-1	brain:	n/a	n/a
40	POU2F2	chr1:151138144-151138774	GM12891	blood:	n/a	n/a
41	ETS1	chr1:151137824-151138966	A549	lung:	n/a	chr1:151137999-151138006 chr1:151138460-151138473 chr1:151137891-151137900
42	EP300	chr1:151138261-151138671	SK-N-SH_RA	brain:	n/a	n/a
43	RCOR1	chr1:151137352-151139053	K562	blood:	n/a	n/a
44	SIX5	chr1:151138075-151138793	GM12878	blood:	n/a	chr1:151138377-151138391
45	FOXP2	chr1:151138218-151138607	SK-N-MC	brain:	n/a	n/a
46	YY1	chr1:151138225-151138696	SK-N-SH_RA	brain:	n/a	n/a
47	MAZ	chr1:151137872-151138964	GM12878	blood:	n/a	n/a
48	GABPA	chr1:151137732-151139601	MCF-7	breast:	n/a	n/a
49	ZNF263	chr1:151137623-151139386	HEK293-T-REx	kidney:	n/a	chr1:151138523-151138544
50	MAFF	chr1:151138292-151138651	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151138326-151138376	Hela-S3	cervix:	n/a
2	chr1:151138326-151138376	PANC-1	pancreas:	n/a
3	chr1:151138315-151138365	LNCaP	prostate:	n/a
4	chr1:151138326-151138376	GM06990	blood:	n/a
5	chr1:151138315-151138365	HMEC	breast:	n/a
6	chr1:151138315-151138365	HRPEpiC	eye:	n/a
7	chr1:151138326-151138376	HepG2	liver:	n/a
8	chr1:151138315-151138365	HCPEpiC	choroid plexus:	n/a
9	chr1:151138326-151138376	GM12892	blood:	n/a
10	chr1:151138315-151138365	Hepatocyte	liver:	n/a
11	chr1:151138326-151138376	MCF-7	breast:	n/a
12	chr1:151138326-151138376	H1-hESC	embryonic stem cell:	embryo
13	chr1:151138326-151138376	ovcar-3	ovarian:	n/a
14	chr1:151138326-151138376	HNPCEpiC	eye:	n/a
15	chr1:151138326-151138376	U87	brain:	n/a
16	chr1:151138326-151138376	HRCEpiC	kidney:	n/a
17	chr1:151138315-151138365	BE2_C	brain:	n/a
18	chr1:151138315-151138365	HEEpiC	esophagus:	n/a
19	chr1:151138326-151138376	HAEpiC	amniotic membrane:	n/a
20	chr1:151138326-151138376	RPTEC	kidney:	n/a
21	chr1:151138315-151138365	AG10803	skin:	n/a
22	chr1:151138326-151138376	AoSMC	blood vessel:	n/a
23	chr1:151138315-151138365	GM12891	blood:	n/a
24	chr1:151138326-151138376	AG10803	skin:	n/a
25	chr1:151138326-151138376	HIPEpiC	eye:	n/a
26	chr1:151138315-151138365	HIPEpiC	eye:	n/a
27	chr1:151138315-151138365	A549	lung:	n/a
28	chr1:151138315-151138365	U87	brain:	n/a
29	chr1:151138315-151138365	CMK	blood:	n/a
30	chr1:151138326-151138376	HMEC	breast:	n/a
31	chr1:151138326-151138376	A549	lung:	n/a
32	chr1:151138315-151138365	HCM	heart:	n/a
33	chr1:151138315-151138365	AG09309	skin:	n/a
34	chr1:151138326-151138376	SK-N-MC	brain:	n/a
35	chr1:151138326-151138376	NHDF-neo	bronchial:	n/a
36	chr1:151138326-151138376	GM12878	blood:	n/a
37	chr1:151138315-151138365	PrEC	prostate:	n/a
38	chr1:151138315-151138365	K562	blood:	n/a
39	chr1:151138326-151138376	ECC-1	luminal epithelium:	n/a
40	chr1:151138326-151138376	HUVEC	blood vessel:	n/a
41	chr1:151138326-151138376	HRE	kidney:	n/a
42	chr1:151138315-151138365	Hela-S3	cervix:	n/a
43	chr1:151138326-151138376	HRPEpiC	eye:	n/a
44	chr1:151138326-151138376	CMK	blood:	n/a
45	chr1:151138326-151138376	GM19239	blood:	n/a
46	chr1:151138326-151138376	LNCaP	prostate:	n/a
47	chr1:151138315-151138365	ECC-1	luminal epithelium:	n/a
48	chr1:151138326-151138376	BJ	skin:	n/a
49	chr1:151138315-151138365	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:151138326-151138376	HEK293	kidney:	embryo

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150979239..150982026-chr1:151136822..151140051,3	MCF-7	breast:
2	chr1:151019236..151020800-chr1:151137402..151139572,2	K562	blood:
3	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
4	chr1:151136716..151140911-chr1:151168778..151172657,5	MCF-7	breast:
5	chr1:151040998..151044328-chr1:151135769..151140484,5	MCF-7	breast:
6	chr1:151137510..151139116-chr1:151253769..151255461,2	K562	blood:
7	chr1:151128026..151130888-chr1:151138043..151140258,2	MCF-7	breast:
8	chr1:151137992..151140464-chr1:151160968..151164864,4	K562	blood:
9	chr1:151029301..151033715-chr1:151136820..151141213,5	MCF-7	breast:
10	chr1:151136857..151140256-chr1:151168802..151172321,4	MCF-7	breast:
11	chr1:151020969..151022652-chr1:151136172..151138973,3	MCF-7	breast:
12	chr1:151137906..151140464-chr1:151160968..151164864,6	K562	blood:
13	chr1:151136893..151140335-chr1:151160848..151164031,6	MCF-7	breast:
14	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:
15	chr1:151136474..151139051-chr1:151252702..151254478,3	MCF-7	breast:
16	chr1:150979986..150982538-chr1:151136841..151139170,3	K562	blood:
17	chr1:151029387..151032698-chr1:151136625..151139017,3	K562	blood:
18	chr1:151042255..151044217-chr1:151136884..151138558,2	MCF-7	breast:
19	chr1:151137725..151143993-chr1:151144904..151151967,18	K562	blood:
20	chr1:151106097..151107684-chr1:151136573..151139445,2	MCF-7	breast:

No data

Variant related genes	Relation type
SCNM1	TF binding region
SCNM1	CpG island
ENSG00000143443	Chromatin interaction
ENSG00000163157	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143458	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4971036	1.00[AFR][1000 genomes]
rs61817981	1.00[AFR][1000 genomes]
rs61819218	1.00[AFR][1000 genomes]
rs61819220	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription 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	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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	106 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	chr1:151136800-151138400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:151136800-151138400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:151137000-151139000	Active TSS	Left Ventricle	heart
4	chr1:151137000-151139200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:151137000-151139200	Active TSS	Ovary	ovary
6	chr1:151137000-151139200	Active TSS	Right Ventricle	heart
7	chr1:151137000-151139600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:151137000-151139600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:151137000-151140200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:151137200-151138400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr1:151137200-151138800	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:151137200-151139200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:151137200-151139200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:151137200-151139200	Active TSS	Aorta	Aorta
15	chr1:151137200-151139200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:151137200-151139200	Active TSS	Fetal Stomach	stomach
17	chr1:151137200-151139200	Active TSS	Stomach Mucosa	stomach
18	chr1:151137200-151139200	Active TSS	NHLF	lung
19	chr1:151137200-151139400	Active TSS	Fetal Kidney	kidney
20	chr1:151137200-151139400	Active TSS	HSMM	muscle
21	chr1:151137200-151139600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:151137400-151138400	Flanking Active TSS	Placenta	Placenta
23	chr1:151137400-151138400	Flanking Active TSS	Fetal Thymus	thymus
24	chr1:151137400-151138800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:151137400-151139000	Active TSS	Brain Anterior Caudate	brain
26	chr1:151137400-151139000	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:151137400-151139000	Active TSS	Colon Smooth Muscle	Colon
28	chr1:151137400-151139200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:151137400-151139200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:151137400-151139200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:151137400-151139200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:151137400-151139200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:151137400-151139200	Active TSS	Esophagus	oesophagus
34	chr1:151137400-151139200	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:151137400-151139200	Active TSS	HMEC	breast
36	chr1:151137400-151139400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:151137400-151139400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:151137400-151139400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:151137400-151139400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:151137400-151139400	Active TSS	A549	lung
41	chr1:151137400-151139400	Bivalent/Poised TSS	HepG2	liver
42	chr1:151137400-151139400	Active TSS	NHDF-Ad	bronchial
43	chr1:151137400-151139600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:151137400-151139800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:151137400-151139800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:151137600-151138400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr1:151137600-151138400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:151137600-151138800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:151137600-151139000	Active TSS	Brain Substantia Nigra	brain
50	chr1:151137600-151139000	Active TSS	Fetal Heart	heart

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