Variant report

Variant	rs12243954
Chromosome Location	chr10:43573168-43573169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43363801..43367756-chr10:43571423..43575718,4	MCF-7	breast:
2	chr10:43572567..43574576-chr10:43871912..43874300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234944	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11239874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61232228	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73266173	0.85[AFR][1000 genomes];1.00[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	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1041297	chr10:43550567-43591057	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv1044759	chr10:43550567-43591617	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv1045690	chr10:43550567-43592346	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv1039890	chr10:43552895-43589758	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv1046759	chr10:43552895-43591617	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv1043295	chr10:43552895-43599363	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv1037488	chr10:43562033-43589927	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv1052136	chr10:43562033-43590140	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1040509	chr10:43562033-43590649	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	nsv1040359	chr10:43562033-43591617	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv1050241	chr10:43562033-43592346	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	nsv1050305	chr10:43568887-43591057	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	nsv1051646	chr10:43569959-43591174	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
24	nsv1038706	chr10:43569959-43591617	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
25	esv3405170	chr10:43571371-43573919	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3327000	chr10:43571771-43574319	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43571400-43573400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:43571600-43573200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:43571600-43573400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:43571600-43573600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:43571600-43573600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr10:43571600-43573800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr10:43571800-43573200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:43571800-43573200	Bivalent/Poised TSS	Right Ventricle	heart
9	chr10:43571800-43573200	Bivalent/Poised TSS	Thymus	Thymus
10	chr10:43571800-43573400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr10:43571800-43573400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:43571800-43573400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:43571800-43573400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:43571800-43573600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr10:43571800-43573600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr10:43571800-43573600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr10:43571800-43573600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:43571800-43573600	Active TSS	Left Ventricle	heart
19	chr10:43571800-43573800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:43572000-43573200	Active TSS	Brain Cingulate Gyrus	brain
21	chr10:43572000-43573200	Active TSS	Gastric	stomach
22	chr10:43572000-43573200	Active TSS	Psoas Muscle	Psoas
23	chr10:43572000-43573200	Active TSS	A549	lung
24	chr10:43572000-43573400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr10:43572000-43573400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:43572000-43573400	Active TSS	Brain Angular Gyrus	brain
27	chr10:43572000-43573400	Bivalent/Poised TSS	NHEK	skin
28	chr10:43572000-43573600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:43572000-43573600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:43572200-43573200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chr10:43572200-43573200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:43572200-43573200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr10:43572200-43573200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr10:43572200-43573200	Bivalent/Poised TSS	Esophagus	oesophagus
35	chr10:43572200-43573200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
36	chr10:43572200-43573200	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr10:43572200-43573400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:43572200-43573400	Active TSS	Ovary	ovary
39	chr10:43572400-43573200	Active TSS	Rectal Smooth Muscle	rectum
40	chr10:43572400-43573600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr10:43572600-43573200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:43572600-43573200	Bivalent/Poised TSS	NH-A	brain
43	chr10:43572600-43573400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:43572600-43573400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:43572600-43573400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:43572600-43573400	Flanking Active TSS	Liver	Liver
47	chr10:43572600-43573400	Flanking Active TSS	Pancreas	Pancrea
48	chr10:43572600-43573600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr10:43572600-43573600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr10:43572600-43573800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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