Variant report

Variant	rs12573454
Chromosome Location	chr10:1779028-1779029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12570576	0.88[ASN][1000 genomes]
rs12769731	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316272	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7093550	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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 target site	39 gene(s)	inside rSNPs	diseases
2	nsv1046041	chr10:1195214-2189155	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1037054	chr10:1232041-1865296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv540413	chr10:1232041-1865296	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv549786	chr10:1293100-1904598	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1054555	chr10:1558145-1965145	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052401	chr10:1582012-1964762	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv540417	chr10:1582012-1964762	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv894738	chr10:1613026-1791836	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1043576	chr10:1667645-1901205	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1042322	chr10:1700702-1799598	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv894743	chr10:1714379-1816298	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1050150	chr10:1729574-1793818	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv540418	chr10:1729574-1793818	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1776200-1780400	Active TSS	GM12878-XiMat	blood
2	chr10:1777800-1779400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr10:1777800-1780000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr10:1777800-1780400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr10:1778000-1779400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:1778000-1780000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr10:1778000-1780200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
8	chr10:1778000-1780400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:1778200-1779200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr10:1778200-1779400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr10:1778200-1780000	Active TSS	Brain Substantia Nigra	brain
12	chr10:1778400-1779200	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr10:1778400-1779200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr10:1778400-1779200	Enhancers	Gastric	stomach
15	chr10:1778400-1779200	Enhancers	Pancreas	Pancrea
16	chr10:1778400-1779400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:1778400-1779400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr10:1778400-1779400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr10:1778400-1779400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr10:1778400-1779600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:1778400-1779600	Bivalent/Poised TSS	Thymus	Thymus
22	chr10:1778400-1779800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr10:1778400-1780000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:1778400-1780000	Active TSS	Esophagus	oesophagus
25	chr10:1778400-1780200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:1778400-1780200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr10:1778600-1779400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:1778600-1779400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr10:1778600-1779600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr10:1778600-1779600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
31	chr10:1778600-1780200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:1778600-1780200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
33	chr10:1778600-1780200	Bivalent Enhancer	Fetal Lung	lung
34	chr10:1778600-1780400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:1778600-1780400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr10:1778600-1780600	Bivalent Enhancer	Fetal Brain Male	brain
37	chr10:1778800-1779200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr10:1778800-1779400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr10:1778800-1779400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr10:1778800-1779400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:1778800-1779400	Bivalent Enhancer	HMEC	breast
42	chr10:1778800-1779600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:1778800-1779600	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr10:1778800-1779600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
45	chr10:1778800-1779800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:1778800-1779800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:1778800-1779800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr10:1778800-1779800	Bivalent/Poised TSS	Psoas Muscle	Psoas
49	chr10:1778800-1779800	Active TSS	Right Atrium	heart
50	chr10:1778800-1779800	Flanking Bivalent TSS/Enh	Right Ventricle	heart

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