Variant report

Variant	rs538580073
Chromosome Location	chr1:10926512-10926513
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10914701..10916708-chr1:10923191..10926876,3	MCF-7	breast:
2	chr1:10751694..10755124-chr1:10925813..10928871,3	MCF-7	breast:
3	chr1:10925966..10930455-chr1:10932404..10937595,5	K562	blood:
4	chr1:10892514..10895346-chr1:10924391..10927017,2	K562	blood:
5	chr1:10919663..10923359-chr1:10925488..10928766,3	MCF-7	breast:
6	chr1:10923927..10926846-chr1:10929418..10932147,3	K562	blood:
7	chr1:10754807..10756455-chr1:10925799..10928452,2	MCF-7	breast:
8	chr1:10895615..10898736-chr1:10923813..10928307,5	K562	blood:
9	chr1:10923092..10926846-chr1:10929418..10932147,4	K562	blood:
10	chr1:10834395..10836864-chr1:10924588..10926735,2	MCF-7	breast:
11	chr1:10926420..10929831-chr1:10932404..10934606,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130940	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv871617	chr1:10858746-10935232	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv871155	chr1:10858746-10998509	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832425	chr1:10903845-11122975	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv545406	chr1:10915507-10935232	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3372885	chr1:10925565-10927613	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3355758	chr1:10925990-10928738	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10918600-10926600	Weak transcription	Esophagus	oesophagus
2	chr1:10920000-10926800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr1:10920200-10926800	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr1:10921200-10926600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10921600-10926800	Weak transcription	Gastric	stomach
6	chr1:10922800-10926800	Weak transcription	Right Atrium	heart
7	chr1:10923000-10926800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:10923600-10926600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:10924400-10926800	Weak transcription	Psoas Muscle	Psoas
10	chr1:10924800-10926600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:10924800-10926800	Weak transcription	Liver	Liver
12	chr1:10925200-10926600	Weak transcription	Pancreas	Pancrea
13	chr1:10925600-10926600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:10925800-10926600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:10925800-10926600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:10925800-10926600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr1:10925800-10928000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:10926000-10926600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr1:10926000-10926600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:10926000-10926600	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:10926000-10926600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:10926000-10926800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr1:10926000-10926800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:10926000-10927800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:10926000-10927800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr1:10926000-10927800	Enhancers	Fetal Heart	heart
27	chr1:10926000-10928600	Bivalent Enhancer	Fetal Brain Male	brain
28	chr1:10926200-10926600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:10926200-10927600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:10926200-10927600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:10926200-10927800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:10926400-10926600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:10926400-10926600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr1:10926400-10926600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:10926400-10926600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr1:10926400-10926600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr1:10926400-10926600	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr1:10926400-10926600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr1:10926400-10926600	Enhancers	Right Ventricle	heart
40	chr1:10926400-10926600	Bivalent Enhancer	NH-A	brain
41	chr1:10926400-10926800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr1:10926400-10926800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr1:10926400-10926800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr1:10926400-10926800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr1:10926400-10926800	Bivalent Enhancer	Placenta	Placenta
46	chr1:10926400-10926800	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:10926400-10927000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr1:10926400-10927800	Enhancers	Lung	lung
49	chr1:10926400-10928000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
50	chr1:10926400-10928000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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