Variant report

Variant	rs528838639
Chromosome Location	chr8:130697819-130697820
allele	-/A
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	NFIC	chr8:130697302-130698639	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr8:130697799-130698311	HCT-116	colon:	n/a	n/a
5	POLR2A	chr8:130697224-130698596	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr8:130697616-130698356	U87	brain:	n/a	n/a
7	JUND	chr8:130697598-130698477	SK-N-SH	brain:	n/a	n/a
8	SP1	chr8:130697348-130698508	A549	lung:	n/a	n/a
9	NFIC	chr8:130697657-130698432	SK-N-SH	brain:	n/a	n/a
10	JUND	chr8:130697083-130698644	HCT-116	colon:	n/a	n/a
11	NFIC	chr8:130697502-130698420	ECC-1	luminal epithelium:	n/a	n/a
12	GATA3	chr8:130697073-130698537	A549	lung:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
13	FOSL2	chr8:130697537-130698546	SK-N-SH	brain:	n/a	n/a
14	TEAD4	chr8:130697528-130698473	SK-N-SH	brain:	n/a	chr8:130698041-130698050
15	POLR2A	chr8:130697637-130698701	HUVEC	blood vessel:	n/a	n/a
16	FOSL1	chr8:130696980-130698570	HCT-116	colon:	n/a	n/a
17	NR3C1	chr8:130697804-130698209	A549	lung:	n/a	n/a
18	TEAD4	chr8:130697629-130698408	ECC-1	luminal epithelium:	n/a	chr8:130698041-130698050
19	YY1	chr8:130697768-130698257	HCT-116	colon:	n/a	n/a
20	POLR2A	chr8:130697775-130698314	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr8:130697703-130698281	PANC-1	pancreas:	n/a	n/a
22	TCF7L2	chr8:130697166-130698328	PANC-1	pancreas:	n/a	chr8:130697412-130697426 chr8:130697411-130697427 chr8:130697414-130697423 chr8:130697411-130697427
23	EP300	chr8:130697525-130698480	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:130697738-130698248	U87	brain:	n/a	n/a
25	RXRA	chr8:130697751-130698450	SK-N-SH	brain:	n/a	n/a
26	JUND	chr8:130697751-130698363	A549	lung:	n/a	n/a
27	TEAD4	chr8:130697669-130698306	ECC-1	luminal epithelium:	n/a	chr8:130698041-130698050
28	TCF12	chr8:130697613-130698415	ECC-1	luminal epithelium:	n/a	n/a
29	REST	chr8:130697361-130698298	A549	lung:	n/a	n/a
30	YY1	chr8:130697816-130698304	A549	lung:	n/a	chr8:130698249-130698265 chr8:130698250-130698260
31	GABPA	chr8:130697760-130698452	A549	lung:	n/a	chr8:130698126-130698135
32	SP1	chr8:130697258-130698520	A549	lung:	n/a	n/a
33	EP300	chr8:130697176-130698576	SK-N-SH	brain:	n/a	n/a
34	EP300	chr8:130697373-130698431	A549	lung:	n/a	n/a
35	CEBPB	chr8:130697562-130698428	A549	lung:	n/a	n/a
36	NR3C1	chr8:130697691-130698364	A549	lung:	n/a	n/a
37	E2F6	chr8:130697624-130698643	A549	lung:	n/a	n/a
38	TCF7L2	chr8:130697209-130698352	HCT-116	colon:	n/a	chr8:130697412-130697426 chr8:130697411-130697427 chr8:130697414-130697423 chr8:130697411-130697427
39	POLR2A	chr8:130697706-130698357	SK-N-SH	brain:	n/a	n/a
40	REST	chr8:130697808-130698238	PFSK-1	brain:	n/a	n/a
41	YY1	chr8:130697723-130698509	SK-N-SH	brain:	n/a	chr8:130698249-130698265 chr8:130698250-130698260
42	FOSL2	chr8:130697272-130698397	A549	lung:	n/a	n/a
43	MAX	chr8:130696734-130698717	HCT-116	colon:	n/a	n/a
44	PBX3	chr8:130697614-130698479	SK-N-SH	brain:	n/a	n/a
45	FOSL2	chr8:130697754-130698280	SK-N-SH	brain:	n/a	n/a
46	JUN	chr8:130697787-130698376	HUVEC	blood vessel:	n/a	n/a
47	GATA3	chr8:130697753-130698340	A549	lung:	n/a	chr8:130698168-130698178
48	SIN3AK20	chr8:130697000-130698687	HCT-116	colon:	n/a	n/a
49	TCF12	chr8:130697481-130698585	SK-N-SH	brain:	n/a	n/a
50	MAX	chr8:130697237-130698785	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: 2 )
Associated
traits (count: 0)

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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130692400-130698000	Weak transcription	Psoas Muscle	Psoas
2	chr8:130692600-130698000	Weak transcription	Right Ventricle	heart
3	chr8:130694400-130698000	Enhancers	Dnd41	blood
4	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:130696200-130698800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:130696200-130701400	Weak transcription	Spleen	Spleen
7	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
9	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:130696800-130698600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:130696800-130698600	Enhancers	NH-A	brain
12	chr8:130696800-130698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:130696800-130699200	Enhancers	NHDF-Ad	bronchial
14	chr8:130696800-130699400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:130696800-130699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:130696800-130701600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:130697000-130698200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:130697000-130698200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:130697000-130698400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:130697000-130698600	Enhancers	Fetal Thymus	thymus
21	chr8:130697000-130698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:130697000-130698800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:130697000-130698800	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:130697000-130698800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:130697000-130698800	Enhancers	NHLF	lung
26	chr8:130697000-130699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:130697000-130699800	Enhancers	Fetal Lung	lung
28	chr8:130697000-130700200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:130697000-130700200	Enhancers	Fetal Heart	heart
30	chr8:130697200-130698400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:130697200-130698600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:130697200-130698600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:130697200-130698600	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:130697200-130698600	Enhancers	HepG2	liver
35	chr8:130697200-130698600	Enhancers	Osteobl	bone
36	chr8:130697400-130698000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:130697400-130698200	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:130697400-130698200	Enhancers	Ovary	ovary
39	chr8:130697400-130698200	Enhancers	Small Intestine	intestine
40	chr8:130697400-130698400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:130697400-130698400	Enhancers	Fetal Intestine Small	intestine
42	chr8:130697400-130698400	Flanking Active TSS	A549	lung
43	chr8:130697400-130698600	Enhancers	Liver	Liver
44	chr8:130697400-130698600	Enhancers	Fetal Stomach	stomach
45	chr8:130697400-130698600	Enhancers	HSMMtube	muscle
46	chr8:130697400-130698600	Genic enhancers	K562	blood
47	chr8:130697400-130698800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:130697400-130698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:130697400-130698800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:130697400-130698800	Enhancers	Fetal Muscle Leg	muscle

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