Variant report

Variant	rs1293308
Chromosome Location	chr8:11723423-11723424
allele	C/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	CHD1	chr8:11723365-11726352	IMR90	lung:	n/a	n/a
2	POLR2A	chr8:11722953-11723530	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:11717595-11726429	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr8:11720978-11723523	IMR90	lung:	n/a	n/a
5	POLR2A	chr8:11720772-11734387	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
2	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
3	chr8:11695946..11697771-chr8:11722616..11724742,2	MCF-7	breast:

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1122182	1.00[ASN][1000 genomes]
rs11780453	1.00[ASN][1000 genomes]
rs1293289	1.00[ASN][1000 genomes]
rs1293290	1.00[ASN][1000 genomes]
rs1293292	1.00[ASN][1000 genomes]
rs1293294	1.00[ASN][1000 genomes]
rs1293295	1.00[ASN][1000 genomes]
rs1293296	1.00[ASN][1000 genomes]
rs1293298	1.00[ASN][1000 genomes]
rs1293300	1.00[ASN][1000 genomes]
rs1293301	1.00[ASN][1000 genomes]
rs1293327	1.00[ASN][1000 genomes]
rs1293331	1.00[ASN][1000 genomes]
rs1296025	1.00[ASN][1000 genomes]
rs1296026	1.00[ASN][1000 genomes]
rs1692811	1.00[ASN][1000 genomes]
rs1692812	1.00[ASN][1000 genomes]
rs1692814	1.00[ASN][1000 genomes]
rs1692817	1.00[ASN][1000 genomes]
rs1692819	1.00[ASN][1000 genomes]
rs1692821	1.00[ASN][1000 genomes]
rs1736065	1.00[ASN][1000 genomes]
rs1736081	1.00[ASN][1000 genomes]
rs1736082	1.00[ASN][1000 genomes]
rs1736083	1.00[ASN][1000 genomes]
rs1736085	1.00[ASN][1000 genomes]
rs1736086	1.00[ASN][1000 genomes]
rs1736089	1.00[ASN][1000 genomes]
rs1736103	1.00[ASN][1000 genomes]
rs2010629	1.00[ASN][1000 genomes]
rs2645417	1.00[ASN][1000 genomes]
rs2740592	1.00[ASN][1000 genomes]
rs2740594	1.00[ASN][1000 genomes]
rs2740595	1.00[ASN][1000 genomes]
rs35304870	1.00[ASN][1000 genomes]
rs3947	1.00[ASN][1000 genomes]
rs4839	1.00[ASN][1000 genomes]
rs6988241	1.00[ASN][1000 genomes]
rs709821	1.00[ASN][1000 genomes]
rs709822	1.00[ASN][1000 genomes]
rs7831946	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking 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	26 gene(s)	inside rSNPs	diseases
9	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv1017334	chr8:11688534-11732949	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv539479	chr8:11688534-11732949	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1019738	chr8:11696393-11732949	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv539480	chr8:11696393-11732949	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1031972	chr8:11696393-11805961	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv539481	chr8:11696393-11805961	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	esv34042	chr8:11698337-11726817	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
30	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 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	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:11711600-11723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:11718200-11723600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11718400-11723800	Enhancers	Stomach Mucosa	stomach
8	chr8:11719000-11723600	Enhancers	Hela-S3	cervix
9	chr8:11719000-11724400	Weak transcription	Aorta	Aorta
10	chr8:11719800-11723800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:11720000-11724000	Enhancers	Ovary	ovary
12	chr8:11720400-11723800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:11720400-11723800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:11720400-11723800	Genic enhancers	Fetal Stomach	stomach
15	chr8:11720800-11723800	Weak transcription	GM12878-XiMat	blood
16	chr8:11721000-11723800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:11721000-11724000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:11721200-11723600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:11721200-11723800	Transcr. at gene 5' and 3'	Osteobl	bone
20	chr8:11721200-11724800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:11721600-11723600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:11721600-11723800	Enhancers	Pancreas	Pancrea
23	chr8:11721600-11724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:11721600-11724200	Enhancers	Fetal Heart	heart
25	chr8:11721600-11724400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:11721600-11724800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:11721800-11723600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:11721800-11723600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:11721800-11723600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:11721800-11725000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr8:11722000-11724200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:11722200-11723600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:11722200-11723600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:11722200-11723800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:11722200-11723800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:11722200-11723800	Weak transcription	Fetal Lung	lung
37	chr8:11722400-11723600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:11722400-11724400	Enhancers	Fetal Brain Male	brain
39	chr8:11722400-11724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:11722400-11724600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:11722600-11723600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:11722600-11723600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:11722600-11723600	Enhancers	Gastric	stomach
44	chr8:11722600-11723800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:11722600-11723800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:11722600-11723800	Enhancers	Small Intestine	intestine
47	chr8:11722600-11724000	Transcr. at gene 5' and 3'	NHLF	lung
48	chr8:11722600-11724200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:11722600-11724600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:11722600-11724600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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