Variant report

Variant	rs554333185
Chromosome Location	chr8:11057817-11057818
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	CHD1	chr8:11056460-11058146	H1-hESC	embryonic stem cell:	n/a	chr8:11058055-11058065
2	POLR2A	chr8:11057477-11058802	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:11056632-11059531	GM12891	blood:	n/a	n/a
4	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
5	POLR2A	chr8:11056829-11059456	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:11056995-11059519	GM18526	blood:	n/a	n/a
7	MXI1	chr8:11057075-11057955	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:11057540-11057872	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr8:11057560-11058294	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:11057567-11058865	SK-N-SH	brain:	n/a	chr8:11057746-11057759
11	TBP	chr8:11057771-11058850	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF7L2	chr8:11057767-11058033	PANC-1	pancreas:	n/a	n/a
13	RAD21	chr8:11057590-11058611	H1-hESC	embryonic stem cell:	n/a	chr8:11057745-11057758 chr8:11057624-11057637
14	STAT5A	chr8:11057409-11057914	GM12878	blood:	n/a	chr8:11057506-11057514 chr8:11057811-11057823
15	CHD1	chr8:11057669-11059557	IMR90	lung:	n/a	chr8:11058055-11058065
16	POLR2A	chr8:11057553-11058901	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:11057472-11059573	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:11056923-11059539	Raji	blood:	n/a	n/a
19	ZEB1	chr8:11057435-11058246	GM12878	blood:	n/a	chr8:11057667-11057674
20	POLR2A	chr8:11057796-11059692	H1-neurons	neurons:	n/a	n/a
21	RUNX3	chr8:11057334-11057865	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:11056002-11059542	MCF10A-Er-Src	breast:	n/a	n/a
23	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
24	POLR2A	chr8:11057648-11059523	GM10847	blood:	n/a	n/a
25	POLR2A	chr8:11057634-11059674	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr8:11057542-11059502	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:11057700-11057850	GM12871	blood:	n/a	chr8:11057746-11057759
28	RAD21	chr8:11057541-11057899	SK-N-SH_RA	brain:	n/a	chr8:11057745-11057758 chr8:11057624-11057637
29	MAZ	chr8:11057489-11059719	IMR90	lung:	n/a	chr8:11058058-11058068 chr8:11059124-11059134
30	MAZ	chr8:11057475-11059544	GM12878	blood:	n/a	chr8:11058058-11058068 chr8:11059124-11059134
31	MAX	chr8:11057774-11057956	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:11056920-11059510	GM18951	blood:	n/a	n/a
33	CTCF	chr8:11057740-11057890	GM12868	blood:	n/a	chr8:11057746-11057759
34	POLR2A	chr8:11057074-11059521	GM19193	blood:	n/a	n/a
35	POLR2A	chr8:11057444-11059641	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:11057629-11058501	SK-N-MC	brain:	n/a	n/a
37	CTCF	chr8:11057733-11057878	GM12878	blood:	n/a	chr8:11057746-11057759
38	POLR2A	chr8:11057515-11059479	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:11057488-11059471	GM12892	blood:	n/a	n/a
40	SMC3	chr8:11056867-11059706	SK-N-SH	brain:	n/a	chr8:11057551-11057561
41	POLR2A	chr8:11056671-11059649	H1-hESC	embryonic stem cell:	n/a	n/a
42	MTA3	chr8:11056891-11058597	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:11057701-11058034	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:11057550-11057852	H1-hESC	embryonic stem cell:	n/a	n/a
45	REST	chr8:11057136-11059780	H1-neurons	neurons:	n/a	chr8:11059120-11059133 chr8:11059348-11059358
46	POLR2A	chr8:11056895-11059511	GM18505	blood:	n/a	n/a
47	POLR2A	chr8:11057143-11059501	GM15510	blood:	n/a	n/a
48	POLR2A	chr8:11057015-11059510	GM19099	blood:	n/a	n/a
49	ZNF143	chr8:11057734-11059494	GM12878	blood:	n/a	n/a
50	SIN3A	chr8:11057155-11058816	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11053117..11055085-chr8:11056263..11058043,2	K562	blood:
2	chr8:11057391..11059241-chr8:11140154..11142116,2	MCF-7	breast:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:120 , 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	chr8:11056600-11058200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:11056600-11058200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr8:11056600-11058400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr8:11056600-11059600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:11056600-11059800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:11056600-11059800	Bivalent/Poised TSS	Osteobl	bone
25	chr8:11056800-11058400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr8:11056800-11059400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:11056800-11059800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:11056800-11059800	Active TSS	Fetal Intestine Small	intestine
29	chr8:11057000-11058200	Enhancers	Liver	Liver
30	chr8:11057000-11058400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr8:11057000-11058400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:11057000-11059200	Active TSS	Aorta	Aorta
33	chr8:11057000-11059400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:11057000-11059400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:11057000-11059600	Active TSS	Brain Substantia Nigra	brain
36	chr8:11057000-11059600	Active TSS	Rectal Smooth Muscle	rectum
37	chr8:11057000-11059800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr8:11057200-11058000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr8:11057200-11058000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr8:11057200-11058000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:11057200-11058200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:11057200-11058400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr8:11057200-11058400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr8:11057200-11059200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:11057200-11059400	Active TSS	Fetal Kidney	kidney
46	chr8:11057200-11059400	Active TSS	Pancreas	Pancrea
47	chr8:11057200-11059600	Active TSS	Lung	lung
48	chr8:11057400-11058000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:11057400-11058000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr8:11057400-11058000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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