Variant report

Variant	rs6982180
Chromosome Location	chr8:126479128-126479129
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	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	BHLHE40	chr8:126479122-126479558	K562	blood:	n/a	n/a
5	YY1	chr8:126478730-126479288	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr8:126477659-126479594	ECC-1	luminal epithelium:	n/a	chr8:126479568-126479577
7	TEAD4	chr8:126478593-126479492	ECC-1	luminal epithelium:	n/a	n/a
8	FOXM1	chr8:126478575-126479490	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr8:126478553-126479492	ECC-1	luminal epithelium:	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	chr8:126479064-126479464	NB4	blood:	n/a	n/a
18	MAX	chr8:126478995-126479584	Hela-S3	cervix:	n/a	n/a
19	MAX	chr8:126478645-126479390	ECC-1	luminal epithelium:	n/a	n/a
20	ARID3A	chr8:126478818-126479609	HepG2	liver:	n/a	n/a
21	NR3C1	chr8:126478712-126479203	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr8:126478668-126479328	ECC-1	luminal epithelium:	n/a	n/a
23	BHLHE40	chr8:126478889-126479498	HepG2	liver:	n/a	n/a
24	GTF2F1	chr8:126478849-126479583	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr8:126478955-126479651	Hela-S3	cervix:	n/a	n/a
26	ESR1	chr8:126478717-126479265	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr8:126478695-126479543	ECC-1	luminal epithelium:	n/a	n/a
28	KAP1	chr8:126478912-126479626	U2OS	brain:	n/a	n/a
29	TCF12	chr8:126478541-126479499	ECC-1	luminal epithelium:	n/a	chr8:126478959-126478967 chr8:126479277-126479286
30	ESR1	chr8:126478712-126479205	ECC-1	luminal epithelium:	n/a	n/a
31	GATA2	chr8:126478804-126479726	HUVEC	blood vessel:	n/a	chr8:126479522-126479532 chr8:126479523-126479532 chr8:126479520-126479530 chr8:126479566-126479576 chr8:126479523-126479530 chr8:126479519-126479535 chr8:126479516-126479537
32	HEY1	chr8:126479077-126479568	HepG2	liver:	n/a	chr8:126479470-126479479
33	ESR1	chr8:126478669-126479329	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr8:126478587-126479468	ECC-1	luminal epithelium:	n/a	n/a
35	FOS	chr8:126479104-126479738	HUVEC	blood vessel:	n/a	chr8:126479273-126479281 chr8:126479560-126479570 chr8:126479566-126479575

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIB1-2	chr8:126479045-126479275	XLOC_006918

Variant related genes	Relation type
ENSG00000253111	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13269742	1.00[CEU][hapmap]
rs28382399	0.90[EUR][1000 genomes]
rs6982383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013895	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs72655666	1.00[EUR][1000 genomes]
rs72655670	1.00[EUR][1000 genomes]
rs72655673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72655693	1.00[EUR][1000 genomes]
rs72655694	1.00[EUR][1000 genomes]
rs72655695	1.00[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126475400-126479200	Weak transcription	A549	lung
2	chr8:126475800-126479600	Enhancers	Placenta	Placenta
3	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:126476800-126479200	Weak transcription	NHEK	skin
5	chr8:126477000-126479800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:126477200-126479800	Enhancers	HUVEC	blood vessel
7	chr8:126477400-126479400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:126477400-126479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:126477600-126479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:126477600-126479400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:126477600-126479400	Enhancers	Adipose Nuclei	Adipose
13	chr8:126477600-126479400	Enhancers	Fetal Stomach	stomach
14	chr8:126477600-126479400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:126477600-126479400	Enhancers	Spleen	Spleen
16	chr8:126477600-126479600	Enhancers	Fetal Muscle Leg	muscle
17	chr8:126477600-126479600	Enhancers	NH-A	brain
18	chr8:126477600-126479800	Enhancers	Fetal Lung	lung
19	chr8:126477600-126480000	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:126477800-126479200	Enhancers	Brain Hippocampus Middle	brain
21	chr8:126477800-126479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:126477800-126479400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:126477800-126479400	Enhancers	Left Ventricle	heart
24	chr8:126477800-126479400	Enhancers	Lung	lung
25	chr8:126477800-126479400	Enhancers	Ovary	ovary
26	chr8:126477800-126479400	Enhancers	Right Atrium	heart
27	chr8:126477800-126479600	Enhancers	Fetal Heart	heart
28	chr8:126477800-126479600	Enhancers	HSMM	muscle
29	chr8:126477800-126479800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:126477800-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:126477800-126480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:126478000-126479200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:126478000-126479200	Enhancers	Fetal Thymus	thymus
34	chr8:126478000-126479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:126478000-126479400	Enhancers	Gastric	stomach
36	chr8:126478000-126479400	Enhancers	Stomach Mucosa	stomach
37	chr8:126478000-126479600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:126478000-126479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:126478000-126479600	Enhancers	Fetal Intestine Small	intestine
40	chr8:126478000-126479600	Enhancers	NHLF	lung
41	chr8:126478000-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:126478000-126479800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:126478200-126479600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:126478400-126479200	Enhancers	Colonic Mucosa	Colon
45	chr8:126478400-126479400	Enhancers	Fetal Intestine Large	intestine
46	chr8:126478400-126479400	Enhancers	Pancreas	Pancrea
47	chr8:126478400-126479400	Enhancers	Small Intestine	intestine
48	chr8:126478600-126479200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr8:126478600-126479200	Enhancers	Fetal Brain Female	brain
50	chr8:126478600-126479400	Enhancers	Rectal Mucosa Donor 31	rectum

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