Variant report

Variant	rs11588796
Chromosome Location	chr1:161101735-161101736
allele	C/T
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	YY1	chr1:161101629-161103266	H1-hESC	embryonic stem cell:	n/a	chr1:161102356-161102376 chr1:161102327-161102336 chr1:161102644-161102663 chr1:161102649-161102657 chr1:161102809-161102831 chr1:161102643-161102663 chr1:161102167-161102178 chr1:161102472-161102486 chr1:161102646-161102668 chr1:161103062-161103073
2	MAZ	chr1:161101721-161103128	HepG2	liver:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
3	POLR2A	chr1:161101652-161103366	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:161101725-161101817	HepG2	liver:	n/a	n/a
5	HCFC1	chr1:161100562-161103899	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:161101459-161101847	U87	brain:	n/a	n/a
7	MAX	chr1:161101643-161103317	A549	lung:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
8	E2F6	chr1:161101728-161102205	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:161101392-161103508	SK-N-MC	brain:	n/a	n/a
10	ZNF263	chr1:161101164-161103646	HEK293-T-REx	kidney:	n/a	chr1:161101729-161101750 chr1:161101743-161101752 chr1:161101699-161101720
11	POLR2A	chr1:161101719-161103137	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr1:161101533-161103591	H1-hESC	embryonic stem cell:	n/a	chr1:161102157-161102170
13	BHLHE40	chr1:161101525-161101795	K562	blood:	n/a	n/a
14	TCF12	chr1:161101676-161103188	ECC-1	luminal epithelium:	n/a	chr1:161102763-161102770 chr1:161102663-161102673
15	MAX	chr1:161101723-161103384	K562	blood:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
16	POLR2A	chr1:161101515-161101835	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr1:161101308-161101764	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:161101609-161103699	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr1:161101665-161102646	ECC-1	luminal epithelium:	n/a	chr1:161101851-161101865
20	MAZ	chr1:161101347-161103759	IMR90	lung:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
21	ZNF143	chr1:161101626-161103230	H1-hESC	embryonic stem cell:	n/a	chr1:161102472-161102482 chr1:161103048-161103066 chr1:161102497-161102515
22	POLR2A	chr1:161101443-161101870	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr1:161101522-161103178	K562	blood:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
24	NR2F2	chr1:161101153-161103232	K562	blood:	n/a	n/a
25	MAX	chr1:161101733-161103310	ECC-1	luminal epithelium:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
26	YY1	chr1:161101615-161103089	K562	blood:	n/a	chr1:161102356-161102376 chr1:161102327-161102336 chr1:161102644-161102663 chr1:161102649-161102657 chr1:161102809-161102831 chr1:161102643-161102663 chr1:161102167-161102178 chr1:161102472-161102486 chr1:161102646-161102668 chr1:161103062-161103073
27	MTA3	chr1:161101697-161102118	GM12878	blood:	n/a	n/a
28	CHD2	chr1:161101488-161103307	GM12878	blood:	n/a	n/a
29	CTBP2	chr1:161101645-161103132	H1-hESC	embryonic stem cell:	n/a	n/a
30	WRNIP1	chr1:161101579-161101964	GM12878	blood:	n/a	n/a
31	MAX	chr1:161101667-161102985	H1-hESC	embryonic stem cell:	n/a	chr1:161102472-161102482 chr1:161102814-161102823 chr1:161101821-161101831
32	RCOR1	chr1:161101544-161103774	Hela-S3	cervix:	n/a	n/a
33	BHLHE40	chr1:161101519-161101813	GM12878	blood:	n/a	n/a
34	MTA3	chr1:161101411-161102318	GM12878	blood:	n/a	n/a
35	RCOR1	chr1:161101537-161101778	K562	blood:	n/a	n/a
36	E2F6	chr1:161101657-161102366	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr1:161101395-161101761	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr1:161101484-161103628	IMR90	lung:	n/a	n/a
39	UBTF	chr1:161101626-161101753	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161014566..161017528-chr1:161100154..161103523,4	K562	blood:
2	chr1:161007064..161010778-chr1:161101040..161104167,3	MCF-7	breast:
3	chr1:161101282..161104235-chr1:161127986..161130833,4	MCF-7	breast:
4	chr1:161101050..161105947-chr1:161126092..161130683,11	K562	blood:
5	chr1:161100691..161104235-chr1:161128857..161130819,4	K562	blood:
6	chr1:161038232..161039779-chr1:161100703..161102349,2	K562	blood:
7	chr1:161066559..161072259-chr1:161099379..161104380,9	MCF-7	breast:
8	chr1:161100611..161104525-chr1:161121984..161125219,4	MCF-7	breast:
9	chr1:161015658..161017550-chr1:161101051..161103879,2	K562	blood:
10	chr1:161100609..161105995-chr1:161120333..161125390,9	MCF-7	breast:
11	chr1:161100027..161103465-chr1:161134887..161137955,5	K562	blood:
12	chr1:161101013..161103871-chr1:161121699..161125704,9	K562	blood:
13	chr1:161013542..161018278-chr1:161100825..161104206,7	MCF-7	breast:
14	chr1:160987861..160992104-chr1:161101436..161104060,5	K562	blood:
15	chr1:161067686..161069382-chr1:161100997..161103060,2	K562	blood:
16	chr1:161007047..161009717-chr1:161100084..161102311,2	K562	blood:
17	chr1:161100027..161102916-chr1:161132751..161137101,5	K562	blood:
18	chr1:160989106..160992104-chr1:161101728..161103686,4	K562	blood:
19	chr1:161099668..161103758-chr1:161134918..161138367,5	MCF-7	breast:
20	chr1:160989601..160993379-chr1:161101301..161104263,5	MCF-7	breast:
21	chr1:161101281..161106554-chr1:161121720..161125014,7	K562	blood:

Variant related genes	Relation type
DEDD	TF binding region
ENSG00000158773	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000186517	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000224985	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1127571	1.00[CHB][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161099600-161101800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:161100400-161101800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:161100400-161101800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:161100400-161101800	Flanking Active TSS	HUVEC	blood vessel
5	chr1:161100400-161103400	Active TSS	Psoas Muscle	Psoas
6	chr1:161100600-161102000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:161100600-161102000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:161100600-161103400	Active TSS	GM12878-XiMat	blood
9	chr1:161100600-161104400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:161100800-161102000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:161100800-161102000	Flanking Active TSS	Dnd41	blood
12	chr1:161100800-161103800	Active TSS	NHLF	lung
13	chr1:161100800-161104000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:161100800-161104000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:161100800-161104000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:161100800-161104200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:161101000-161101800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr1:161101000-161101800	Enhancers	Spleen	Spleen
19	chr1:161101000-161102000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:161101000-161102000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:161101000-161102000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr1:161101000-161102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:161101000-161102000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr1:161101000-161102000	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr1:161101000-161102000	Flanking Active TSS	Thymus	Thymus
26	chr1:161101000-161103200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:161101000-161103400	Active TSS	Right Ventricle	heart
28	chr1:161101000-161103800	Active TSS	Aorta	Aorta
29	chr1:161101000-161104000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:161101000-161104000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:161101000-161104000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:161101000-161104000	Active TSS	HSMM	muscle
33	chr1:161101200-161101800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:161101200-161102000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:161101200-161102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:161101200-161102000	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr1:161101200-161102000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr1:161101200-161102000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr1:161101200-161102000	Flanking Active TSS	Fetal Brain Male	brain
40	chr1:161101200-161102000	Flanking Active TSS	Hela-S3	cervix
41	chr1:161101200-161102000	Flanking Active TSS	HepG2	liver
42	chr1:161101200-161102200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr1:161101200-161102200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr1:161101200-161103400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:161101200-161103600	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:161101200-161103800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:161101200-161103800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:161101200-161103800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:161101200-161103800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:161101200-161103800	Active TSS	Pancreatic Islets	Pancreatic Islet

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