Variant report

Variant	rs373174606
Chromosome Location	chr8:11058461-11058462
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	POLR2A	chr8:11058273-11059513	ProgFib	skin:	n/a	n/a
2	CTCF	chr8:11058320-11058470	GM12864	blood:	n/a	n/a
3	POLR2A	chr8:11058154-11058528	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:11058213-11058524	GM12892	blood:	n/a	n/a
5	CTCF	chr8:11058250-11058690	Gliobla	brain:	n/a	n/a
6	POLR2A	chr8:11057477-11058802	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:11057984-11058865	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:11058257-11058520	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:11056632-11059531	GM12891	blood:	n/a	n/a
10	CTCF	chr8:11058320-11058470	HPAF	blood vessel:	n/a	n/a
11	TAF1	chr8:11058142-11058893	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
13	CTCF	chr8:11058290-11058466	Fibrobl	skin:	n/a	n/a
14	TAF1	chr8:11058275-11058887	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:11056829-11059456	GM12878	blood:	n/a	n/a
16	CTCF	chr8:11058329-11058468	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr8:11056995-11059519	GM18526	blood:	n/a	n/a
18	CTCF	chr8:11058340-11058490	AG04450	lung:	n/a	n/a
19	RAD21	chr8:11058134-11058488	SK-N-SH_RA	brain:	n/a	n/a
20	MXI1	chr8:11058105-11058886	IMR90	lung:	n/a	n/a
21	CTCF	chr8:11058258-11058733	MCF-7	breast:	n/a	n/a
22	EBF1	chr8:11058251-11058504	GM12878	blood:	n/a	n/a
23	CTCF	chr8:11058272-11058517	MCF-7	breast:	n/a	n/a
24	RAD21	chr8:11058215-11058518	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr8:11058192-11058805	IMR90	lung:	n/a	n/a
26	CTCF	chr8:11057567-11058865	SK-N-SH	brain:	n/a	chr8:11057746-11057759
27	CTCF	chr8:11058238-11058711	GM12891	blood:	n/a	n/a
28	TBP	chr8:11057771-11058850	H1-hESC	embryonic stem cell:	n/a	n/a
29	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
30	POLR2A	chr8:11058075-11058665	GM12892	blood:	n/a	n/a
31	MAX	chr8:11058180-11058935	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr8:11058320-11058470	GM12871	blood:	n/a	n/a
33	RAD21	chr8:11057590-11058611	H1-hESC	embryonic stem cell:	n/a	chr8:11057745-11057758 chr8:11057624-11057637
34	POLR2A	chr8:11058194-11058523	GM12878	blood:	n/a	n/a
35	MAX	chr8:11058159-11059235	H1-hESC	embryonic stem cell:	n/a	chr8:11059124-11059134
36	RAD21	chr8:11058221-11058482	GM12878	blood:	n/a	n/a
37	CTCF	chr8:11058340-11058490	GM12874	blood:	n/a	n/a
38	CTCF	chr8:11058294-11058475	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:11058400-11058550	NHLF	lung:	n/a	n/a
40	POLR2A	chr8:11058321-11059439	MCF-7	breast:	n/a	n/a
41	CHD1	chr8:11057669-11059557	IMR90	lung:	n/a	chr8:11058055-11058065
42	MYC	chr8:11058274-11058724	MCF-7	breast:	n/a	n/a
43	YY1	chr8:11058446-11058880	GM12891	blood:	n/a	n/a
44	TAF7	chr8:11057980-11058519	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr8:11058276-11058794	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:11058280-11059494	IMR90	lung:	n/a	n/a
47	CTCF	chr8:11058292-11058479	MCF-7	breast:	n/a	n/a
48	TAF1	chr8:11058433-11059569	H1-neurons	neurons:	n/a	n/a
49	CTCF	chr8:11058320-11058470	HCM	heart:	n/a	n/a
50	MAX	chr8:11058202-11058899	SK-N-SH	brain:	n/a	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
ENSG00000270076	TF binding region
XKR6	TF binding region
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	chr8:11056400-11058600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:11056400-11059400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:11056400-11059400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:11056400-11059600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr8:11056600-11059600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:11056600-11059800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:11056600-11059800	Bivalent/Poised TSS	Osteobl	bone
22	chr8:11056800-11059400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:11056800-11059800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11056800-11059800	Active TSS	Fetal Intestine Small	intestine
25	chr8:11057000-11059200	Active TSS	Aorta	Aorta
26	chr8:11057000-11059400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:11057000-11059400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:11057000-11059600	Active TSS	Brain Substantia Nigra	brain
29	chr8:11057000-11059600	Active TSS	Rectal Smooth Muscle	rectum
30	chr8:11057000-11059800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr8:11057200-11059200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:11057200-11059400	Active TSS	Fetal Kidney	kidney
33	chr8:11057200-11059400	Active TSS	Pancreas	Pancrea
34	chr8:11057200-11059600	Active TSS	Lung	lung
35	chr8:11057400-11059000	Active TSS	Fetal Intestine Large	intestine
36	chr8:11057400-11059000	Bivalent/Poised TSS	Fetal Thymus	thymus
37	chr8:11057400-11059200	Active TSS	Fetal Brain Female	brain
38	chr8:11057400-11059400	Active TSS	Gastric	stomach
39	chr8:11057400-11059400	Active TSS	NHLF	lung
40	chr8:11057400-11059600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:11057400-11059600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:11057400-11059600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:11057400-11059600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:11057400-11059600	Active TSS	Brain Cingulate Gyrus	brain
45	chr8:11057400-11059800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:11057400-11059800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:11057400-11059800	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:11057400-11059800	Active TSS	Right Atrium	heart
49	chr8:11057400-11059800	Active TSS	HSMMtube	muscle
50	chr8:11057600-11059200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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