Variant report

Variant	rs11579291
Chromosome Location	chr1:176177784-176177785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:176177754-176178086	K562	blood:	n/a	n/a
2	RUNX3	chr1:176177648-176178098	GM12878	blood:	n/a	n/a
3	RUNX3	chr1:176177778-176178076	GM12878	blood:	n/a	n/a
4	UBTF	chr1:176177733-176177980	K562	blood:	n/a	n/a
5	POLR2A	chr1:176175267-176178001	K562	blood:	n/a	n/a
6	EP300	chr1:176177625-176178069	K562	blood:	n/a	n/a
7	POLR2A	chr1:176175121-176178142	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:176174989-176178000	GM12878	blood:	n/a	n/a
9	EP300	chr1:176177624-176178004	GM12878	blood:	n/a	n/a
10	SPI1	chr1:176177776-176177943	K562	blood:	n/a	n/a
11	POLR2A	chr1:176175410-176178148	K562	blood:	n/a	n/a
12	SPI1	chr1:176177723-176178019	HL-60	blood:	n/a	n/a
13	TEAD4	chr1:176177654-176178124	K562	blood:	n/a	n/a
14	ZNF384	chr1:176177738-176177980	GM12878	blood:	n/a	n/a
15	JUND	chr1:176177729-176178096	K562	blood:	n/a	n/a
16	POLR2A	chr1:176177657-176178188	HL-60	blood:	n/a	n/a
17	GABPA	chr1:176177632-176178041	K562	blood:	n/a	n/a
18	CUX1	chr1:176177644-176177940	GM12878	blood:	n/a	n/a
19	ZNF384	chr1:176175987-176178276	K562	blood:	n/a	n/a
20	POLR2A	chr1:176177761-176178152	HL-60	blood:	n/a	n/a
21	CUX1	chr1:176177681-176177996	K562	blood:	n/a	n/a
22	POLR2A	chr1:176175267-176178158	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:176174335-176179842	K562	blood:	n/a	n/a
24	POLR2A	chr1:176175248-176177977	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:175160152..175162627-chr1:176175775..176178430,2	MCF-7	breast:
2	chr1:176175578..176178265-chr17:56707734..56709644,2	MCF-7	breast:
3	chr1:173835621..173837414-chr1:176175490..176177844,2	MCF-7	breast:
4	chr1:176176870..176178715-chr1:176185078..176187298,2	MCF-7	breast:

No data

Variant related genes	Relation type
RFWD2	TF binding region
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000235750	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10494499	0.86[ASN][1000 genomes]
rs11579181	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11583207	0.94[EUR][1000 genomes]
rs11583765	0.84[EUR][1000 genomes]
rs11583991	0.94[EUR][1000 genomes]
rs11586568	0.94[EUR][1000 genomes]
rs11587051	0.89[EUR][1000 genomes]
rs11587254	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11587785	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11588361	0.89[EUR][1000 genomes]
rs11588480	0.92[EUR][1000 genomes]
rs12403794	0.86[ASN][1000 genomes]
rs17351933	0.86[ASN][1000 genomes]
rs17352072	1.00[ASN][1000 genomes]
rs17354252	0.86[ASN][1000 genomes]
rs56125427	0.94[EUR][1000 genomes]
rs56192244	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56943475	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61821028	0.86[ASN][1000 genomes]
rs61822662	1.00[ASN][1000 genomes]
rs74127185	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176174200-176177800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:176174400-176178200	Active TSS	GM12878-XiMat	blood
3	chr1:176175000-176177800	Active TSS	A549	lung
4	chr1:176175000-176177800	Active TSS	K562	blood
5	chr1:176175400-176177800	Active TSS	Hela-S3	cervix
6	chr1:176176600-176177800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:176176800-176178000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:176177000-176177800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:176177000-176177800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:176177000-176177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:176177000-176178200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:176177000-176178400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:176177200-176177800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:176177200-176178000	Flanking Active TSS	Dnd41	blood
15	chr1:176177400-176177800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:176177400-176177800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:176177400-176177800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:176177400-176178000	Enhancers	Fetal Muscle Leg	muscle
19	chr1:176177600-176177800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:176177600-176177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:176177600-176177800	Active TSS	Primary T cells from cord blood	blood
22	chr1:176177600-176177800	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:176177600-176177800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:176177600-176177800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:176177600-176177800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:176177600-176177800	Enhancers	Adipose Nuclei	Adipose
27	chr1:176177600-176177800	Enhancers	Liver	Liver
28	chr1:176177600-176177800	Active TSS	Duodenum Mucosa	Duodenum
29	chr1:176177600-176178000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:176177600-176178000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:176177600-176178000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:176177600-176178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:176177600-176178000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:176177600-176178000	Weak transcription	Gastric	stomach
35	chr1:176177600-176178000	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:176177600-176178000	Enhancers	NHEK	skin
37	chr1:176177600-176178200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:176177600-176178200	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:176177600-176178200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:176177600-176178200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:176177600-176178200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:176177600-176178200	Enhancers	Colonic Mucosa	Colon
43	chr1:176177600-176178200	Enhancers	Lung	lung
44	chr1:176177600-176178200	Enhancers	Pancreas	Pancrea
45	chr1:176177600-176180200	Weak transcription	Fetal Intestine Small	intestine
46	chr1:176177600-176180200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:176177600-176180200	Weak transcription	Stomach Mucosa	stomach
48	chr1:176177600-176181200	Weak transcription	Psoas Muscle	Psoas
49	chr1:176177600-176198600	Weak transcription	Brain Cingulate Gyrus	brain

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