Variant report

Variant	rs41270023
Chromosome Location	chr1:161138121-161138122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161138016-161138268	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161138097-161138147	SAEC	small airway:	n/a
2	chr1:161138097-161138147	AG04450	lung:	fetal
3	chr1:161138097-161138147	AG04449	skin:	fetal
4	chr1:161138097-161138147	HCT-116	colon:	n/a
5	chr1:161138097-161138147	GM12891	blood:	n/a
6	chr1:161138097-161138147	ovcar-3	ovarian:	n/a
7	chr1:161138097-161138147	LNCaP	prostate:	n/a
8	chr1:161138097-161138147	HCF	heart:	n/a
9	chr1:161138097-161138147	HL-60	blood:	n/a
10	chr1:161138097-161138147	AG09319	gingival:	n/a
11	chr1:161138097-161138147	Hepatocyte	liver:	n/a
12	chr1:161138097-161138147	HIPEpiC	eye:	n/a
13	chr1:161138097-161138147	GM06990	blood:	n/a
14	chr1:161138097-161138147	HCPEpiC	choroid plexus:	n/a
15	chr1:161138097-161138147	MCF10A-Er-Src	breast:	n/a
16	chr1:161138097-161138147	AG10803	skin:	n/a
17	chr1:161138097-161138147	AoSMC	blood vessel:	n/a
18	chr1:161138097-161138147	RPTEC	kidney:	n/a
19	chr1:161138097-161138147	IMR90	lung:	fetal
20	chr1:161138097-161138147	HMEC	breast:	n/a
21	chr1:161138097-161138147	T-47D	breast:	n/a
22	chr1:161138097-161138147	SKMC	muscle:	n/a
23	chr1:161138097-161138147	NT2-D1	testis:	n/a
24	chr1:161138097-161138147	BJ	skin:	n/a
25	chr1:161138097-161138147	Hela-S3	cervix:	n/a
26	chr1:161138097-161138147	PrEC	prostate:	n/a
27	chr1:161138097-161138147	HCM	heart:	n/a
28	chr1:161138097-161138147	CMK	blood:	n/a
29	chr1:161138097-161138147	HEEpiC	esophagus:	n/a
30	chr1:161138097-161138147	HepG2	liver:	n/a
31	chr1:161138097-161138147	AG09309	skin:	n/a
32	chr1:161138097-161138147	HAEpiC	amniotic membrane:	n/a
33	chr1:161138097-161138147	HRPEpiC	eye:	n/a
34	chr1:161138097-161138147	MCF-7	breast:	n/a
35	chr1:161138097-161138147	NHBE	bronchial:	n/a
36	chr1:161138097-161138147	PANC-1	pancreas:	n/a
37	chr1:161138097-161138147	U87	brain:	n/a
38	chr1:161138097-161138147	NB4	blood:	n/a
39	chr1:161138097-161138147	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:161138097-161138147	GM19239	blood:	n/a
41	chr1:161138097-161138147	K562	blood:	n/a
42	chr1:161138097-161138147	HRE	kidney:	n/a
43	chr1:161138097-161138147	Jurkat	blood:	n/a
44	chr1:161138097-161138147	Caco-2	colon:	n/a
45	chr1:161138097-161138147	HRCEpiC	kidney:	n/a
46	chr1:161138097-161138147	SK-N-SH_RA	brain:	n/a
47	chr1:161138097-161138147	GM12892	blood:	n/a
48	chr1:161138097-161138147	A549	lung:	n/a
49	chr1:161138097-161138147	HUVEC	blood vessel:	n/a
50	chr1:161138097-161138147	BE2_C	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161099668..161103758-chr1:161134918..161138367,5	MCF-7	breast:
2	chr1:161135753..161138931-chr1:161140276..161143695,4	MCF-7	breast:
3	chr1:161137931..161140889-chr1:161281311..161284069,2	K562	blood:
4	chr1:161085942..161091087-chr1:161134747..161138869,10	K562	blood:
5	chr1:161136333..161138132-chr1:161170864..161173587,2	K562	blood:
6	chr1:161135373..161143326-chr1:161144272..161149580,16	MCF-7	breast:

No data

Variant related genes	Relation type
PPOX	TF binding region
PPOX	CpG island
ENSG00000158793	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158796	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12735723	1.00[EUR][1000 genomes]
rs12738103	1.00[EUR][1000 genomes]
rs12759784	1.00[EUR][1000 genomes]
rs35587044	1.00[EUR][1000 genomes]
rs41270007	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161137000-161138800	Weak transcription	Aorta	Aorta
2	chr1:161137000-161140200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:161137200-161138600	Weak transcription	Gastric	stomach
4	chr1:161137200-161139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:161137200-161139200	Weak transcription	Left Ventricle	heart
6	chr1:161137200-161139200	Weak transcription	HSMMtube	muscle
7	chr1:161137200-161139600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:161137200-161140200	Weak transcription	Stomach Mucosa	stomach
9	chr1:161137200-161140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:161137200-161140400	Weak transcription	Fetal Kidney	kidney
11	chr1:161137200-161140800	Weak transcription	Fetal Heart	heart
12	chr1:161137200-161140800	Weak transcription	Psoas Muscle	Psoas
13	chr1:161137200-161142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:161137200-161146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:161137400-161138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:161137400-161138200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:161137400-161138200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:161137400-161138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:161137400-161138200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:161137400-161138200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:161137400-161138200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:161137400-161138400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:161137400-161138400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:161137400-161138600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:161137400-161138600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:161137400-161138600	Weak transcription	Primary T cells from cord blood	blood
27	chr1:161137400-161138600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:161137400-161138600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:161137400-161138600	Weak transcription	Fetal Thymus	thymus
30	chr1:161137400-161138800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:161137400-161138800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:161137400-161138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:161137400-161138800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:161137400-161138800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:161137400-161138800	Weak transcription	Primary B cells from cord blood	blood
36	chr1:161137400-161138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:161137400-161138800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:161137400-161138800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:161137400-161138800	Weak transcription	Colonic Mucosa	Colon
40	chr1:161137400-161138800	Weak transcription	Thymus	Thymus
41	chr1:161137400-161138800	Weak transcription	NHLF	lung
42	chr1:161137400-161138800	Weak transcription	Osteobl	bone
43	chr1:161137400-161139000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:161137400-161139000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:161137400-161139000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:161137400-161139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:161137400-161139000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:161137400-161139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:161137400-161139000	Weak transcription	HSMM	muscle
50	chr1:161137400-161139000	Weak transcription	HUVEC	blood vessel

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