Variant report

Variant	rs17182136
Chromosome Location	chr8:130698050-130698051
allele	G/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	PBX3	chr8:130697637-130698554	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr8:130697764-130698268	A549	lung:	n/a	n/a
3	EP300	chr8:130697825-130698262	SK-N-SH_RA	brain:	n/a	n/a
4	NFIC	chr8:130697302-130698639	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr8:130698034-130698074	Gliobla	brain:	n/a	n/a
6	POLR2A	chr8:130697799-130698311	HCT-116	colon:	n/a	n/a
7	FOXA2	chr8:130697849-130698261	A549	lung:	n/a	n/a
8	POLR2A	chr8:130697224-130698596	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr8:130697616-130698356	U87	brain:	n/a	n/a
10	JUND	chr8:130697598-130698477	SK-N-SH	brain:	n/a	n/a
11	SP1	chr8:130697348-130698508	A549	lung:	n/a	n/a
12	NFIC	chr8:130697657-130698432	SK-N-SH	brain:	n/a	n/a
13	JUND	chr8:130697083-130698644	HCT-116	colon:	n/a	n/a
14	NFIC	chr8:130697502-130698420	ECC-1	luminal epithelium:	n/a	n/a
15	GATA3	chr8:130697073-130698537	A549	lung:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
16	FOSL2	chr8:130697537-130698546	SK-N-SH	brain:	n/a	n/a
17	TEAD4	chr8:130697528-130698473	SK-N-SH	brain:	n/a	chr8:130698041-130698050
18	POLR2A	chr8:130697637-130698701	HUVEC	blood vessel:	n/a	n/a
19	FOSL1	chr8:130696980-130698570	HCT-116	colon:	n/a	n/a
20	NR3C1	chr8:130697804-130698209	A549	lung:	n/a	n/a
21	POLR2A	chr8:130697853-130698243	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr8:130697906-130698106	MCF10A-Er-Src	breast:	n/a	n/a
23	TEAD4	chr8:130697629-130698408	ECC-1	luminal epithelium:	n/a	chr8:130698041-130698050
24	YY1	chr8:130697768-130698257	HCT-116	colon:	n/a	n/a
25	POLR2A	chr8:130697775-130698314	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr8:130697703-130698281	PANC-1	pancreas:	n/a	n/a
27	TCF7L2	chr8:130697166-130698328	PANC-1	pancreas:	n/a	chr8:130697412-130697426 chr8:130697411-130697427 chr8:130697414-130697423 chr8:130697411-130697427
28	EP300	chr8:130697525-130698480	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr8:130697738-130698248	U87	brain:	n/a	n/a
30	RXRA	chr8:130697751-130698450	SK-N-SH	brain:	n/a	n/a
31	YY1	chr8:130697850-130698143	HCT-116	colon:	n/a	n/a
32	MYC	chr8:130697873-130698215	HUVEC	blood vessel:	n/a	n/a
33	JUND	chr8:130697751-130698363	A549	lung:	n/a	n/a
34	TEAD4	chr8:130697669-130698306	ECC-1	luminal epithelium:	n/a	chr8:130698041-130698050
35	TCF12	chr8:130697613-130698415	ECC-1	luminal epithelium:	n/a	n/a
36	REST	chr8:130697361-130698298	A549	lung:	n/a	n/a
37	YY1	chr8:130697816-130698304	A549	lung:	n/a	chr8:130698249-130698265 chr8:130698250-130698260
38	GABPA	chr8:130697760-130698452	A549	lung:	n/a	chr8:130698126-130698135
39	SP1	chr8:130697258-130698520	A549	lung:	n/a	n/a
40	USF1	chr8:130697841-130698344	SK-N-SH	brain:	n/a	n/a
41	EP300	chr8:130697176-130698576	SK-N-SH	brain:	n/a	n/a
42	EP300	chr8:130697373-130698431	A549	lung:	n/a	n/a
43	CEBPB	chr8:130697562-130698428	A549	lung:	n/a	n/a
44	NR3C1	chr8:130697691-130698364	A549	lung:	n/a	n/a
45	E2F6	chr8:130697624-130698643	A549	lung:	n/a	n/a
46	TCF7L2	chr8:130697209-130698352	HCT-116	colon:	n/a	chr8:130697412-130697426 chr8:130697411-130697427 chr8:130697414-130697423 chr8:130697411-130697427
47	POLR2A	chr8:130697706-130698357	SK-N-SH	brain:	n/a	n/a
48	REST	chr8:130697808-130698238	PFSK-1	brain:	n/a	n/a
49	YY1	chr8:130697723-130698509	SK-N-SH	brain:	n/a	chr8:130698249-130698265 chr8:130698250-130698260
50	FOSL2	chr8:130697272-130698397	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130696204..130698352-chr8:130701733..130703322,2	K562	blood:
2	chr8:130697457..130699780-chr8:130703396..130705887,2	K562	blood:
3	chr8:130694433..130695997-chr8:130696991..130698919,2	K562	blood:
4	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:
5	chr8:128806162..128808310-chr8:130696628..130698534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254223	TF binding region
ENSG00000249859	Chromatin interaction
ENSG00000254223	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10108995	1.00[ASN][1000 genomes]
rs28651114	1.00[ASN][1000 genomes]
rs55978074	1.00[ASN][1000 genomes]
rs60266578	1.00[ASN][1000 genomes]
rs73710469	1.00[ASN][1000 genomes]
rs73710473	1.00[ASN][1000 genomes]
rs73710478	1.00[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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:130696200-130698800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:130696200-130701400	Weak transcription	Spleen	Spleen
4	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
6	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:130696800-130698600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:130696800-130698600	Enhancers	NH-A	brain
9	chr8:130696800-130698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:130696800-130699200	Enhancers	NHDF-Ad	bronchial
11	chr8:130696800-130699400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:130696800-130699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130696800-130701600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:130697000-130698200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:130697000-130698200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:130697000-130698400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:130697000-130698600	Enhancers	Fetal Thymus	thymus
18	chr8:130697000-130698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:130697000-130698800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:130697000-130698800	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:130697000-130698800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:130697000-130698800	Enhancers	NHLF	lung
23	chr8:130697000-130699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:130697000-130699800	Enhancers	Fetal Lung	lung
25	chr8:130697000-130700200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:130697000-130700200	Enhancers	Fetal Heart	heart
27	chr8:130697200-130698400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:130697200-130698600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:130697200-130698600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:130697200-130698600	Enhancers	Stomach Smooth Muscle	stomach
31	chr8:130697200-130698600	Enhancers	HepG2	liver
32	chr8:130697200-130698600	Enhancers	Osteobl	bone
33	chr8:130697400-130698200	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:130697400-130698200	Enhancers	Ovary	ovary
35	chr8:130697400-130698200	Enhancers	Small Intestine	intestine
36	chr8:130697400-130698400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:130697400-130698400	Enhancers	Fetal Intestine Small	intestine
38	chr8:130697400-130698400	Flanking Active TSS	A549	lung
39	chr8:130697400-130698600	Enhancers	Liver	Liver
40	chr8:130697400-130698600	Enhancers	Fetal Stomach	stomach
41	chr8:130697400-130698600	Enhancers	HSMMtube	muscle
42	chr8:130697400-130698600	Genic enhancers	K562	blood
43	chr8:130697400-130698800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:130697400-130698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:130697400-130698800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:130697400-130698800	Enhancers	Fetal Muscle Leg	muscle
47	chr8:130697400-130698800	Enhancers	HMEC	breast
48	chr8:130697400-130698800	Enhancers	HSMM	muscle
49	chr8:130697600-130698400	Enhancers	Adipose Nuclei	Adipose
50	chr8:130697600-130698600	Enhancers	Colon Smooth Muscle	Colon

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