Variant report

Variant	rs534611880
Chromosome Location	chr8:11059300-11059301
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	POLR2A	chr8:11058273-11059513	ProgFib	skin:	n/a	n/a
2	SP1	chr8:11059022-11059544	H1-hESC	embryonic stem cell:	n/a	chr8:11059362-11059374 chr8:11059385-11059394 chr8:11059364-11059373 chr8:11059463-11059472 chr8:11059362-11059374 chr8:11059383-11059395 chr8:11059380-11059394 chr8:11059383-11059395 chr8:11059125-11059134 chr8:11059359-11059373 chr8:11059124-11059133
3	USF1	chr8:11059190-11059502	H1-hESC	embryonic stem cell:	n/a	chr8:11059342-11059358
4	ZEB1	chr8:11058903-11059474	GM12878	blood:	n/a	n/a
5	SP4	chr8:11058957-11059514	H1-hESC	embryonic stem cell:	n/a	chr8:11059358-11059374 chr8:11059381-11059397
6	SETDB1	chr8:11058967-11059898	U2OS	brain:	n/a	n/a
7	ELF1	chr8:11058768-11059673	SK-N-SH	brain:	n/a	chr8:11059033-11059042 chr8:11059420-11059431 chr8:11059012-11059023 chr8:11059420-11059431 chr8:11059012-11059021 chr8:11059421-11059430 chr8:11059032-11059043 chr8:11059013-11059022 chr8:11059012-11059023
8	TBP	chr8:11059068-11059535	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBL1XR1	chr8:11058979-11059656	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:11058943-11059424	PFSK-1	brain:	n/a	n/a
11	ATF2	chr8:11059115-11059765	GM12878	blood:	n/a	n/a
12	MYC	chr8:11059112-11059532	H1-hESC	embryonic stem cell:	n/a	chr8:11059124-11059134
13	MYC	chr8:11059256-11059410	MCF-7	breast:	n/a	n/a
14	PML	chr8:11058970-11059424	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:11056632-11059531	GM12891	blood:	n/a	n/a
16	ATF1	chr8:11059283-11059551	K562	blood:	n/a	n/a
17	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
18	GABPA	chr8:11058747-11059680	MCF-7	breast:	n/a	chr8:11059059-11059068
19	GABPA	chr8:11058751-11059583	MCF-7	breast:	n/a	chr8:11059059-11059068
20	ATF2	chr8:11058847-11059762	GM12878	blood:	n/a	n/a
21	TAF1	chr8:11058970-11059338	GM12891	blood:	n/a	n/a
22	POLR2A	chr8:11058956-11059459	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:11056829-11059456	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:11058967-11059496	GM12891	blood:	n/a	n/a
25	USF2	chr8:11059244-11059580	GM12878	blood:	n/a	chr8:11059342-11059358
26	POLR2A	chr8:11056995-11059519	GM18526	blood:	n/a	n/a
27	JUND	chr8:11059277-11059536	HepG2	liver:	n/a	n/a
28	CREB1	chr8:11058516-11059531	H1-hESC	embryonic stem cell:	n/a	chr8:11059409-11059422
29	GABPA	chr8:11058892-11059440	H1-hESC	embryonic stem cell:	n/a	chr8:11059059-11059068
30	TAF7	chr8:11058945-11059442	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:11058904-11059530	H1-hESC	embryonic stem cell:	n/a	n/a
32	PAX5	chr8:11058872-11059520	GM12878	blood:	n/a	n/a
33	JUND	chr8:11059287-11059471	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr8:11058519-11059511	GM12878	blood:	n/a	chr8:11059087-11059107 chr8:11059083-11059105 chr8:11059088-11059107 chr8:11059096-11059104 chr8:11059094-11059102 chr8:11059095-11059105
35	GABPA	chr8:11058907-11059474	H1-hESC	embryonic stem cell:	n/a	chr8:11059059-11059068
36	GTF2F1	chr8:11058779-11059372	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr8:11059022-11059395	GM12878	blood:	n/a	n/a
38	FOS	chr8:11059093-11059682	HUVEC	blood vessel:	n/a	n/a
39	YY1	chr8:11058210-11059525	GM12878	blood:	n/a	chr8:11059087-11059107 chr8:11059083-11059105 chr8:11059088-11059107 chr8:11059096-11059104 chr8:11059094-11059102 chr8:11059095-11059105
40	MAX	chr8:11058903-11059547	SK-N-SH	brain:	n/a	chr8:11059124-11059134
41	RUNX3	chr8:11058925-11059536	GM12878	blood:	n/a	n/a
42	CHD2	chr8:11058960-11059568	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:11058321-11059439	MCF-7	breast:	n/a	n/a
44	CHD1	chr8:11057669-11059557	IMR90	lung:	n/a	chr8:11058055-11058065
45	GABPA	chr8:11058577-11059700	SK-N-SH	brain:	n/a	chr8:11059059-11059068
46	GABPA	chr8:11059090-11059559	K562	blood:	n/a	n/a
47	YY1	chr8:11058577-11059588	SK-N-SH	brain:	n/a	chr8:11059087-11059107 chr8:11059083-11059105 chr8:11059088-11059107 chr8:11059096-11059104 chr8:11059094-11059102 chr8:11059095-11059105
48	GABPA	chr8:11059254-11059457	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:11059189-11059435	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr8:11058280-11059494	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11059277-11059327	Hela-S3	cervix:	n/a
2	chr8:11059277-11059327	HRE	kidney:	n/a
3	chr8:11059277-11059327	CMK	blood:	n/a
4	chr8:11059277-11059327	HCF	heart:	n/a
5	chr8:11059277-11059327	SKMC	muscle:	n/a
6	chr8:11059277-11059327	HRCEpiC	kidney:	n/a
7	chr8:11059277-11059327	AG04449	skin:	fetal
8	chr8:11059277-11059327	HRPEpiC	eye:	n/a
9	chr8:11059277-11059327	HEEpiC	esophagus:	n/a
10	chr8:11059277-11059327	T-47D	breast:	n/a
11	chr8:11059277-11059327	BE2_C	brain:	n/a
12	chr8:11059277-11059327	NH-A	brain:	n/a
13	chr8:11059277-11059327	GM06990	blood:	n/a
14	chr8:11059277-11059327	IMR90	lung:	fetal
15	chr8:11059277-11059327	AG09319	gingival:	n/a
16	chr8:11059277-11059327	MCF-7	breast:	n/a
17	chr8:11059277-11059327	AG10803	skin:	n/a
18	chr8:11059277-11059327	RPTEC	kidney:	n/a
19	chr8:11059277-11059327	NHDF-neo	bronchial:	n/a
20	chr8:11059277-11059327	HCT-116	colon:	n/a
21	chr8:11059277-11059327	HIPEpiC	eye:	n/a
22	chr8:11059277-11059327	HNPCEpiC	eye:	n/a
23	chr8:11059277-11059327	GM12892	blood:	n/a
24	chr8:11059277-11059327	HUVEC	blood vessel:	n/a
25	chr8:11059277-11059327	K562	blood:	n/a
26	chr8:11059277-11059327	Caco-2	colon:	n/a
27	chr8:11059277-11059327	HCPEpiC	choroid plexus:	n/a
28	chr8:11059277-11059327	PrEC	prostate:	n/a
29	chr8:11059277-11059327	PFSK-1	brain:	n/a
30	chr8:11059277-11059327	PANC-1	pancreas:	n/a
31	chr8:11059277-11059327	SAEC	small airway:	n/a
32	chr8:11059277-11059327	AG04450	lung:	fetal
33	chr8:11059277-11059327	LNCaP	prostate:	n/a
34	chr8:11059277-11059327	HMEC	breast:	n/a
35	chr8:11059277-11059327	GM12891	blood:	n/a
36	chr8:11059277-11059327	U87	brain:	n/a
37	chr8:11059277-11059327	HepG2	liver:	n/a
38	chr8:11059277-11059327	ECC-1	luminal epithelium:	n/a
39	chr8:11059277-11059327	GM19239	blood:	n/a
40	chr8:11059277-11059327	SK-N-SH_RA	brain:	n/a
41	chr8:11059277-11059327	HPAEpiC	pulmonary alveolar:	n/a
42	chr8:11059277-11059327	ovcar-3	ovarian:	n/a
43	chr8:11059277-11059327	HL-60	blood:	n/a
44	chr8:11059277-11059327	HCM	heart:	n/a
45	chr8:11059277-11059327	MCF10A-Er-Src	breast:	n/a
46	chr8:11059277-11059327	HAEpiC	amniotic membrane:	n/a
47	chr8:11059277-11059327	BJ	skin:	n/a
48	chr8:11059277-11059327	AG09309	skin:	n/a
49	chr8:11059277-11059327	HEK293	kidney:	embryo
50	chr8:11059277-11059327	Hepatocyte	liver:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTMR9-3	chr8:11058877-11061136	NONHSAT125041

Variant related genes	Relation type
XKR6	TF binding region
ENSG00000270076	TF binding region
ENSG00000270076	CpG island
XKR6	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv3395510	chr8:11057567-11060415	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3390852	chr8:11057892-11059990	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11054800-11059600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:11055400-11059400	Active TSS	GM12878-XiMat	blood
3	chr8:11055600-11059400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:11055800-11059400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:11055800-11059600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:11056000-11059600	Active TSS	Brain Anterior Caudate	brain
7	chr8:11056000-11059800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:11056200-11059400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:11056200-11059400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:11056200-11059600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:11056200-11059600	Active TSS	Brain Angular Gyrus	brain
12	chr8:11056200-11059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:11056200-11059800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:11056200-11059800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:11056400-11059400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:11056400-11059400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:11056400-11059600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:11056600-11059600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:11056600-11059800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:11056600-11059800	Bivalent/Poised TSS	Osteobl	bone
21	chr8:11056800-11059400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:11056800-11059800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:11056800-11059800	Active TSS	Fetal Intestine Small	intestine
24	chr8:11057000-11059400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11057000-11059400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:11057000-11059600	Active TSS	Brain Substantia Nigra	brain
27	chr8:11057000-11059600	Active TSS	Rectal Smooth Muscle	rectum
28	chr8:11057000-11059800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr8:11057200-11059400	Active TSS	Fetal Kidney	kidney
30	chr8:11057200-11059400	Active TSS	Pancreas	Pancrea
31	chr8:11057200-11059600	Active TSS	Lung	lung
32	chr8:11057400-11059400	Active TSS	Gastric	stomach
33	chr8:11057400-11059400	Active TSS	NHLF	lung
34	chr8:11057400-11059600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:11057400-11059600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr8:11057400-11059600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:11057400-11059600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:11057400-11059600	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:11057400-11059800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:11057400-11059800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:11057400-11059800	Active TSS	Duodenum Mucosa	Duodenum
42	chr8:11057400-11059800	Active TSS	Right Atrium	heart
43	chr8:11057400-11059800	Active TSS	HSMMtube	muscle
44	chr8:11057600-11059400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:11057600-11059400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:11057600-11059600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:11057600-11059600	Active TSS	Colon Smooth Muscle	Colon
48	chr8:11057600-11059600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:11057600-11059600	Active TSS	HMEC	breast
50	chr8:11057600-11059600	Active TSS	NHEK	skin

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