Variant report

Variant	rs146286290
Chromosome Location	chr8:8749232-8749233
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	chr8:8749128-8749316	MCF-7	breast:	n/a	n/a
2	MYC	chr8:8749154-8749277	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:8748282-8751466	ECC-1	luminal epithelium:	n/a	n/a
4	SIN3A	chr8:8749213-8751659	H1-hESC	embryonic stem cell:	n/a	chr8:8751164-8751173 chr8:8750710-8750721
5	POLR2A	chr8:8748880-8749308	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8678976..8682016-chr8:8748981..8752043,3	MCF-7	breast:
2	chr8:8742135..8744016-chr8:8747118..8749376,2	K562	blood:
3	chr8:8647143..8649997-chr8:8748170..8750908,2	MCF-7	breast:
4	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
5	chr8:8726269..8728991-chr8:8747261..8749561,2	K562	blood:
6	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:

Variant related genes	Relation type
RNU6-682P	TF binding region
ENSG00000104626	Chromatin interaction
ENSG00000254367	Chromatin interaction
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv1803827	chr8:8745741-8758058	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1825921	chr8:8745741-8758058	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1835162	chr8:8745741-8758058	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1797256	chr8:8747894-8751316	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1805128	chr8:8747894-8751316	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv1805100	chr8:8747894-8752684	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1817276	chr8:8748032-8750571	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv1825506	chr8:8748032-8751316	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1835786	chr8:8748032-8751316	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1844744	chr8:8748032-8751316	Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1824559	chr8:8748032-8752587	Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3371289	chr8:8748742-8753140	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8745200-8750200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr8:8745800-8750600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:8746200-8749400	Enhancers	Stomach Mucosa	stomach
4	chr8:8746400-8749600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr8:8747000-8749400	Transcr. at gene 5' and 3'	Fetal Lung	lung
6	chr8:8747200-8749400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
7	chr8:8747200-8749600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:8747200-8750200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr8:8747400-8749400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr8:8747400-8749400	Enhancers	Small Intestine	intestine
11	chr8:8747400-8749600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:8747400-8749800	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr8:8747400-8750000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:8747600-8749400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:8747600-8749400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
16	chr8:8747600-8749600	Transcr. at gene 5' and 3'	A549	lung
17	chr8:8747600-8749600	Transcr. at gene 5' and 3'	NHLF	lung
18	chr8:8747600-8750200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr8:8747600-8750200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:8747800-8749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:8747800-8749400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:8747800-8749600	Enhancers	Right Atrium	heart
23	chr8:8747800-8749800	Weak transcription	Primary B cells from cord blood	blood
24	chr8:8747800-8749800	Flanking Active TSS	HepG2	liver
25	chr8:8747800-8751800	Active TSS	Fetal Kidney	kidney
26	chr8:8748000-8749600	Genic enhancers	Placenta	Placenta
27	chr8:8748000-8749600	Genic enhancers	Thymus	Thymus
28	chr8:8748000-8749600	Genic enhancers	Spleen	Spleen
29	chr8:8748000-8749800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:8748200-8749400	Enhancers	NHDF-Ad	bronchial
31	chr8:8748200-8749600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:8748200-8749600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:8748200-8749600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:8748200-8749600	Genic enhancers	NHEK	skin
35	chr8:8748200-8749800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:8748200-8750000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr8:8748200-8750000	Enhancers	Fetal Heart	heart
38	chr8:8748400-8749400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:8748400-8749400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:8748400-8749400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:8748400-8749400	Weak transcription	GM12878-XiMat	blood
42	chr8:8748400-8749600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:8748600-8749400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:8748600-8749400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr8:8748600-8749600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:8748600-8749600	Enhancers	Primary T cells from cord blood	blood
47	chr8:8748600-8750400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:8748800-8749400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:8748800-8749600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:8748800-8749800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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