Variant report

Variant	rs74124672
Chromosome Location	chr1:161190060-161190061
allele	A/G
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	GATA3	chr1:161189952-161190182	SH-SY5Y	brain:	n/a	chr1:161190121-161190128 chr1:161190121-161190128 chr1:161190114-161190135 chr1:161190119-161190129 chr1:161190121-161190128
2	POLR2A	chr1:161187638-161194598	HepG2	liver:	n/a	n/a
3	ZNF384	chr1:161190042-161190194	K562	blood:	n/a	n/a
4	JUND	chr1:161189549-161190182	HepG2	liver:	n/a	n/a
5	MBD4	chr1:161189585-161190189	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:161186483-161191435	HepG2	liver:	n/a	n/a
7	EP300	chr1:161189731-161190198	HepG2	liver:	n/a	n/a
8	CUX1	chr1:161190017-161190061	K562	blood:	n/a	n/a
9	POLR2A	chr1:161187952-161190972	HepG2	liver:	n/a	n/a
10	MBD4	chr1:161187817-161190236	HepG2	liver:	n/a	n/a
11	GATA2	chr1:161189917-161190203	SH-SY5Y	brain:	n/a	chr1:161190121-161190128 chr1:161190121-161190128 chr1:161190114-161190135 chr1:161190119-161190129 chr1:161190121-161190128
12	POLR2A	chr1:161188009-161190832	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:161187501-161194535	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:161187261-161194848	HepG2	liver:	n/a	n/a
15	HEY1	chr1:161187665-161190931	HepG2	liver:	n/a	n/a
16	HEY1	chr1:161187602-161194631	HepG2	liver:	n/a	n/a
17	MYBL2	chr1:161187930-161191444	HepG2	liver:	n/a	n/a
18	CEBPD	chr1:161189844-161190110	HepG2	liver:	n/a	n/a
19	TCF7L2	chr1:161189719-161190108	HCT-116	colon:	n/a	n/a
20	MYBL2	chr1:161188023-161190176	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:161187913-161190189	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:161189846-161190123	HepG2	liver:	n/a	n/a
23	TEAD4	chr1:161188915-161190920	HepG2	liver:	n/a	n/a
24	NFIC	chr1:161189353-161190156	HepG2	liver:	n/a	n/a
25	NFIC	chr1:161189610-161190892	HepG2	liver:	n/a	chr1:161190631-161190647 chr1:161190630-161190647

No.	Distal block	Cell Line	Cell type
1	chr1:161187330..161192033-chr1:161197583..161201870,4	K562	blood:
2	chr1:161187686..161190489-chr1:161204186..161207080,2	K562	blood:
3	chr1:161168408..161172447-chr1:161188045..161190714,3	K562	blood:
4	chr1:161179772..161182627-chr1:161189790..161192489,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APOA2-2	chr1:161189852-161190093	NONHSAT007140

Variant related genes	Relation type
ENSG00000268387	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34887199	1.00[AMR][1000 genomes]
rs55880062	1.00[AMR][1000 genomes]
rs56758346	1.00[AMR][1000 genomes]
rs57560345	1.00[AMR][1000 genomes]
rs61642842	1.00[AMR][1000 genomes]
rs74124650	1.00[AMR][1000 genomes]
rs74124652	1.00[AMR][1000 genomes]
rs74124653	1.00[AMR][1000 genomes]
rs74124691	1.00[AMR][1000 genomes]
rs74124697	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124950	1.00[AMR][1000 genomes]
rs74127620	1.00[AMR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
3	chr1:161184200-161190200	Weak transcription	Psoas Muscle	Psoas
4	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:161184400-161195000	Weak transcription	NHEK	skin
7	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
11	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
12	chr1:161185000-161194800	Weak transcription	Dnd41	blood
13	chr1:161185000-161195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:161185200-161195000	Weak transcription	A549	lung
15	chr1:161185200-161195200	Weak transcription	Thymus	Thymus
16	chr1:161185400-161195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:161185400-161195200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:161185400-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:161185600-161195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:161185600-161195200	Weak transcription	HMEC	breast
21	chr1:161185800-161190800	Enhancers	K562	blood
22	chr1:161185800-161192400	Weak transcription	Fetal Stomach	stomach
23	chr1:161185800-161195000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:161185800-161195800	Enhancers	Fetal Intestine Large	intestine
25	chr1:161186000-161194000	Weak transcription	Gastric	stomach
26	chr1:161186000-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:161186200-161190200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:161186400-161190800	Flanking Active TSS	HepG2	liver
29	chr1:161186400-161191000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:161186600-161190800	Enhancers	Fetal Intestine Small	intestine
31	chr1:161186600-161194000	Weak transcription	Stomach Mucosa	stomach
32	chr1:161186800-161190200	Enhancers	Primary T cells from cord blood	blood
33	chr1:161186800-161194800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:161186800-161195000	Weak transcription	Brain Angular Gyrus	brain
35	chr1:161187000-161191800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:161187000-161195000	Weak transcription	Fetal Lung	lung
37	chr1:161187400-161195800	Weak transcription	Lung	lung
38	chr1:161187600-161194200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:161187600-161195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:161187800-161195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:161187800-161195000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:161187800-161195000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:161188000-161190800	Weak transcription	Left Ventricle	heart
44	chr1:161188000-161191600	Weak transcription	Placenta	Placenta
45	chr1:161188000-161192000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:161188200-161190800	Strong transcription	Spleen	Spleen
47	chr1:161188200-161195000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:161188200-161195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:161188400-161191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:161188400-161192800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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