Variant report

Variant	rs2001844
Chromosome Location	chr8:126478745-126478746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:126478541-126479626	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr8:126478723-126479359	ECC-1	luminal epithelium:	n/a	n/a
3	SPI1	chr8:126478540-126479812	HL-60	blood:	n/a	chr8:126478676-126478683
4	YY1	chr8:126478730-126479288	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr8:126477659-126479594	ECC-1	luminal epithelium:	n/a	chr8:126479568-126479577
6	TEAD4	chr8:126478593-126479492	ECC-1	luminal epithelium:	n/a	n/a
7	FOXM1	chr8:126478575-126479490	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr8:126478553-126479492	ECC-1	luminal epithelium:	n/a	n/a
9	MAFK	chr8:126478721-126479035	IMR90	lung:	n/a	n/a
10	TEAD4	chr8:126478673-126479209	HepG2	liver:	n/a	n/a
11	TCF12	chr8:126477683-126479561	ECC-1	luminal epithelium:	n/a	chr8:126478959-126478967 chr8:126479277-126479286
12	NFIC	chr8:126478498-126479667	ECC-1	luminal epithelium:	n/a	n/a
13	USF1	chr8:126478674-126479296	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr8:126478663-126479232	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr8:126478737-126479199	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr8:126478581-126479405	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr8:126478645-126479390	ECC-1	luminal epithelium:	n/a	n/a
18	NR3C1	chr8:126478712-126479203	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr8:126478668-126479328	ECC-1	luminal epithelium:	n/a	n/a
20	MAFK	chr8:126478743-126479052	HepG2	liver:	n/a	n/a
21	ESR1	chr8:126478717-126479265	ECC-1	luminal epithelium:	n/a	n/a
22	RAD21	chr8:126478695-126479543	ECC-1	luminal epithelium:	n/a	n/a
23	TCF12	chr8:126478541-126479499	ECC-1	luminal epithelium:	n/a	chr8:126478959-126478967 chr8:126479277-126479286
24	ESR1	chr8:126478712-126479205	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr8:126478669-126479329	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr8:126478587-126479468	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126476379..126479143-chr8:126667265..126669380,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253111	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10808546	0.83[EUR][1000 genomes]
rs17321515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2001846	0.94[ASN][1000 genomes]
rs2001945	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2954017	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2954019	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2954021	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2954022	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954029	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2954031	0.93[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980854	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2980855	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2980856	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2980860	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2980868	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2980869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2980871	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2980875	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2980882	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980886	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6982502	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6982636	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999569	0.84[AMR][1000 genomes];0.96[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126472400-126479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126475400-126479200	Weak transcription	A549	lung
3	chr8:126475600-126478800	Weak transcription	K562	blood
4	chr8:126475800-126479600	Enhancers	Placenta	Placenta
5	chr8:126476400-126478800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:126476400-126479000	Weak transcription	Right Ventricle	heart
7	chr8:126476600-126478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:126476600-126478800	Enhancers	Hela-S3	cervix
9	chr8:126476600-126479000	Weak transcription	Liver	Liver
10	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:126476800-126479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126476800-126479200	Weak transcription	NHEK	skin
13	chr8:126477000-126479800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:126477200-126479800	Enhancers	HUVEC	blood vessel
15	chr8:126477400-126479400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:126477400-126479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:126477600-126478800	Enhancers	Fetal Kidney	kidney
19	chr8:126477600-126479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:126477600-126479400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:126477600-126479400	Enhancers	Adipose Nuclei	Adipose
22	chr8:126477600-126479400	Enhancers	Fetal Stomach	stomach
23	chr8:126477600-126479400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:126477600-126479400	Enhancers	Spleen	Spleen
25	chr8:126477600-126479600	Enhancers	Fetal Muscle Leg	muscle
26	chr8:126477600-126479600	Enhancers	NH-A	brain
27	chr8:126477600-126479800	Enhancers	Fetal Lung	lung
28	chr8:126477600-126480000	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:126477800-126479200	Enhancers	Brain Hippocampus Middle	brain
30	chr8:126477800-126479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:126477800-126479400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:126477800-126479400	Enhancers	Left Ventricle	heart
33	chr8:126477800-126479400	Enhancers	Lung	lung
34	chr8:126477800-126479400	Enhancers	Ovary	ovary
35	chr8:126477800-126479400	Enhancers	Right Atrium	heart
36	chr8:126477800-126479600	Enhancers	Fetal Heart	heart
37	chr8:126477800-126479600	Enhancers	HSMM	muscle
38	chr8:126477800-126479800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:126477800-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:126477800-126480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:126478000-126479200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:126478000-126479200	Enhancers	Fetal Thymus	thymus
43	chr8:126478000-126479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:126478000-126479400	Enhancers	Gastric	stomach
45	chr8:126478000-126479400	Enhancers	Stomach Mucosa	stomach
46	chr8:126478000-126479600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:126478000-126479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:126478000-126479600	Enhancers	Fetal Intestine Small	intestine
49	chr8:126478000-126479600	Enhancers	NHLF	lung
50	chr8:126478000-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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