Variant report

Variant	rs145352954
Chromosome Location	chr8:11058807-11058808
allele	A/G
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	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
3	POLR2A	chr8:11058749-11058865	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr8:11057984-11058865	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:11056632-11059531	GM12891	blood:	n/a	n/a
6	TAF1	chr8:11058142-11058893	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
8	GABPA	chr8:11058747-11059680	MCF-7	breast:	n/a	chr8:11059059-11059068
9	GABPA	chr8:11058751-11059583	MCF-7	breast:	n/a	chr8:11059059-11059068
10	TAF1	chr8:11058275-11058887	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11056829-11059456	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11056995-11059519	GM18526	blood:	n/a	n/a
13	MXI1	chr8:11058105-11058886	IMR90	lung:	n/a	n/a
14	CREB1	chr8:11058516-11059531	H1-hESC	embryonic stem cell:	n/a	chr8:11059409-11059422
15	CTCF	chr8:11057567-11058865	SK-N-SH	brain:	n/a	chr8:11057746-11057759
16	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
17	GTF2F1	chr8:11058779-11059372	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr8:11057771-11058850	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	MAX	chr8:11058180-11058935	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr8:11058159-11059235	H1-hESC	embryonic stem cell:	n/a	chr8:11059124-11059134
22	POLR2A	chr8:11058321-11059439	MCF-7	breast:	n/a	n/a
23	CHD1	chr8:11057669-11059557	IMR90	lung:	n/a	chr8:11058055-11058065
24	GABPA	chr8:11058577-11059700	SK-N-SH	brain:	n/a	chr8:11059059-11059068
25	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
26	YY1	chr8:11058446-11058880	GM12891	blood:	n/a	n/a
27	POLR2A	chr8:11058280-11059494	IMR90	lung:	n/a	n/a
28	TAF1	chr8:11058433-11059569	H1-neurons	neurons:	n/a	n/a
29	MAX	chr8:11058202-11058899	SK-N-SH	brain:	n/a	n/a
30	ELK1	chr8:11058695-11059679	GM12878	blood:	n/a	n/a
31	CREB1	chr8:11058511-11059617	GM12878	blood:	n/a	chr8:11059409-11059422
32	MAX	chr8:11058515-11058874	MCF-7	breast:	n/a	n/a
33	YY1	chr8:11058295-11059722	SK-N-SH	brain:	n/a	chr8:11059087-11059107 chr8:11059083-11059105 chr8:11059088-11059107 chr8:11059096-11059104 chr8:11059094-11059102 chr8:11059095-11059105
34	POLR2A	chr8:11058105-11059493	Gliobla	brain:	n/a	n/a
35	EGR1	chr8:11058709-11058889	GM12878	blood:	n/a	chr8:11058808-11058822
36	POLR2A	chr8:11057553-11058901	GM12878	blood:	n/a	n/a
37	YY1	chr8:11058536-11059568	H1-hESC	embryonic stem cell:	n/a	chr8:11059087-11059107 chr8:11059083-11059105 chr8:11059088-11059107 chr8:11059096-11059104 chr8:11059094-11059102 chr8:11059095-11059105
38	POLR2A	chr8:11057472-11059573	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr8:11056923-11059539	Raji	blood:	n/a	n/a
40	POLR2A	chr8:11058111-11059678	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr8:11057796-11059692	H1-neurons	neurons:	n/a	n/a
42	CREB1	chr8:11058753-11059779	H1-hESC	embryonic stem cell:	n/a	chr8:11059409-11059422
43	ELF1	chr8:11058749-11059636	GM12878	blood:	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
44	POLR2A	chr8:11058657-11058882	SK-N-SH	brain:	n/a	n/a
45	PAX5	chr8:11058501-11058873	GM12891	blood:	n/a	n/a
46	POLR2A	chr8:11056002-11059542	MCF10A-Er-Src	breast:	n/a	n/a
47	CHD1	chr8:11058647-11058843	GM12878	blood:	n/a	n/a
48	ELF1	chr8:11057453-11059484	GM12878	blood:	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
49	ELF1	chr8:11058771-11059194	MCF-7	breast:	n/a	chr8:11059033-11059042 chr8:11059012-11059023 chr8:11059012-11059021 chr8:11059032-11059043 chr8:11059013-11059022 chr8:11059012-11059023
50	YY1	chr8:11058618-11059511	NT2-D1	testis:	n/a	chr8:11059087-11059107 chr8:11059083-11059105 chr8:11059088-11059107 chr8:11059096-11059104 chr8:11059094-11059102 chr8:11059095-11059105

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11058770-11058820	MCF-7	breast:	n/a
2	chr8:11058770-11058820	HCT-116	colon:	n/a
3	chr8:11058770-11058820	GM12878	blood:	n/a
4	chr8:11058770-11058820	HEK293	kidney:	embryo
5	chr8:11058770-11058820	NHBE	bronchial:	n/a
6	chr8:11058770-11058820	U87	brain:	n/a
7	chr8:11058770-11058820	HCM	heart:	n/a
8	chr8:11058770-11058820	GM12891	blood:	n/a
9	chr8:11058770-11058820	BJ	skin:	n/a
10	chr8:11058770-11058820	HNPCEpiC	eye:	n/a
11	chr8:11058770-11058820	RPTEC	kidney:	n/a
12	chr8:11058770-11058820	HUVEC	blood vessel:	n/a
13	chr8:11058770-11058820	HPAEpiC	pulmonary alveolar:	n/a
14	chr8:11058770-11058820	GM12892	blood:	n/a
15	chr8:11058770-11058820	HEEpiC	esophagus:	n/a
16	chr8:11058770-11058820	ProgFib	skin:	n/a
17	chr8:11058770-11058820	HepG2	liver:	n/a
18	chr8:11058770-11058820	H1-hESC	embryonic stem cell:	embryo
19	chr8:11058770-11058820	AG09309	skin:	n/a
20	chr8:11058770-11058820	HRE	kidney:	n/a
21	chr8:11058770-11058820	HRCEpiC	kidney:	n/a
22	chr8:11058770-11058820	IMR90	lung:	fetal
23	chr8:11058770-11058820	AG04449	skin:	fetal
24	chr8:11058770-11058820	ovcar-3	ovarian:	n/a
25	chr8:11058770-11058820	T-47D	breast:	n/a
26	chr8:11058770-11058820	AoSMC	blood vessel:	n/a
27	chr8:11058770-11058820	NH-A	brain:	n/a
28	chr8:11058770-11058820	SAEC	small airway:	n/a
29	chr8:11058770-11058820	HMEC	breast:	n/a
30	chr8:11058770-11058820	LNCaP	prostate:	n/a
31	chr8:11058770-11058820	NT2-D1	testis:	n/a
32	chr8:11058770-11058820	Caco-2	colon:	n/a
33	chr8:11058770-11058820	HRPEpiC	eye:	n/a
34	chr8:11058770-11058820	ECC-1	luminal epithelium:	n/a
35	chr8:11058770-11058820	PANC-1	pancreas:	n/a
36	chr8:11058770-11058820	Hela-S3	cervix:	n/a
37	chr8:11058770-11058820	Hepatocyte	liver:	n/a
38	chr8:11058770-11058820	HCPEpiC	choroid plexus:	n/a
39	chr8:11058770-11058820	PrEC	prostate:	n/a
40	chr8:11058770-11058820	GM06990	blood:	n/a
41	chr8:11058770-11058820	SKMC	muscle:	n/a
42	chr8:11058770-11058820	K562	blood:	n/a
43	chr8:11058770-11058820	HCF	heart:	n/a
44	chr8:11058770-11058820	HIPEpiC	eye:	n/a
45	chr8:11058770-11058820	Jurkat	blood:	n/a
46	chr8:11058770-11058820	BE2_C	brain:	n/a
47	chr8:11058770-11058820	AG09319	gingival:	n/a
48	chr8:11058770-11058820	AG04450	lung:	fetal
49	chr8:11058770-11058820	NB4	blood:	n/a
50	chr8:11058770-11058820	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11057391..11059241-chr8:11140154..11142116,2	MCF-7	breast:

Variant related genes	Relation type
XKR6	TF binding region
ENSG00000270076	TF binding region
ENSG00000270076	CpG island
XKR6	CpG island
ENSG00000104643	Chromatin interaction

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:118 , 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	chr8:11057000-11059200	Active TSS	Aorta	Aorta
25	chr8:11057000-11059400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11057000-11059400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:11057000-11059600	Active TSS	Brain Substantia Nigra	brain
28	chr8:11057000-11059600	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:11057000-11059800	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr8:11057200-11059200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:11057200-11059400	Active TSS	Fetal Kidney	kidney
32	chr8:11057200-11059400	Active TSS	Pancreas	Pancrea
33	chr8:11057200-11059600	Active TSS	Lung	lung
34	chr8:11057400-11059000	Active TSS	Fetal Intestine Large	intestine
35	chr8:11057400-11059000	Bivalent/Poised TSS	Fetal Thymus	thymus
36	chr8:11057400-11059200	Active TSS	Fetal Brain Female	brain
37	chr8:11057400-11059400	Active TSS	Gastric	stomach
38	chr8:11057400-11059400	Active TSS	NHLF	lung
39	chr8:11057400-11059600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:11057400-11059600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:11057400-11059600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr8:11057400-11059600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:11057400-11059600	Active TSS	Brain Cingulate Gyrus	brain
44	chr8:11057400-11059800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:11057400-11059800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:11057400-11059800	Active TSS	Duodenum Mucosa	Duodenum
47	chr8:11057400-11059800	Active TSS	Right Atrium	heart
48	chr8:11057400-11059800	Active TSS	HSMMtube	muscle
49	chr8:11057600-11059200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:11057600-11059200	Active TSS	Sigmoid Colon	Sigmoid Colon

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