Variant report

Variant	rs10744120
Chromosome Location	chr12:8171056-8171057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10744117	0.92[AMR][1000 genomes]
rs1808295	0.92[AMR][1000 genomes]
rs4242904	0.88[AMR][1000 genomes]
rs4883469	0.92[AMR][1000 genomes]
rs7960000	0.90[AMR][1000 genomes]
rs7971215	0.92[AMR][1000 genomes]
rs7975579	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	nsv1054331	chr12:7924713-8183422	Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer 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	82 gene(s)	inside rSNPs	diseases
10	esv1792916	chr12:8000336-8171838	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469082	chr12:8000336-8171838	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv469084	chr12:8000336-8171838	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv469085	chr12:8000336-8171838	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv469086	chr12:8000336-8171838	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv557298	chr12:8000336-8171838	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
16	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
17	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
18	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
20	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
21	nsv869752	chr12:8026388-8174912	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
22	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
23	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
24	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
25	nsv1044509	chr12:8130958-8182060	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
26	nsv973014	chr12:8166756-8171787	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8158800-8171200	Weak transcription	Gastric	stomach
2	chr12:8169600-8171200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:8170800-8171200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr12:8170800-8171200	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:8170800-8171200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:8170800-8171200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr12:8170800-8171400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:8170800-8171400	Bivalent Enhancer	Placenta	Placenta
9	chr12:8170800-8171400	Active TSS	Psoas Muscle	Psoas
10	chr12:8170800-8171600	Enhancers	Lung	lung
11	chr12:8170800-8172000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:8170800-8172000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:8170800-8172200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:8170800-8172200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:8170800-8172200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:8170800-8172200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:8170800-8172400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:8171000-8171200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:8171000-8171200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:8171000-8171200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:8171000-8171200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:8171000-8171200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:8171000-8171200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
24	chr12:8171000-8171200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr12:8171000-8171200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:8171000-8171200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr12:8171000-8171200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:8171000-8171200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:8171000-8171200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:8171000-8171200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr12:8171000-8171200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
32	chr12:8171000-8171200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr12:8171000-8171200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr12:8171000-8171200	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:8171000-8171200	Flanking Active TSS	Thymus	Thymus
36	chr12:8171000-8171200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr12:8171000-8171400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr12:8171000-8171400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr12:8171000-8171400	Active TSS	Primary T cells from cord blood	blood
40	chr12:8171000-8171400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:8171000-8171400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:8171000-8171400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:8171000-8171400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr12:8171000-8171400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr12:8171000-8171400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr12:8171000-8171400	Active TSS	Right Ventricle	heart
47	chr12:8171000-8171400	Bivalent Enhancer	HUVEC	blood vessel
48	chr12:8171000-8171600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr12:8171000-8171600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr12:8171000-8171600	Bivalent Enhancer	Stomach Mucosa	stomach

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