Variant report

Variant	rs563637016
Chromosome Location	chr12:124116124-124116125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
2	chr12:124090616..124092389-chr12:124114546..124116542,2	MCF-7	breast:
3	chr12:124109158..124110697-chr12:124113991..124116759,2	K562	blood:
4	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
5	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111364	Chromatin interaction
ENSG00000185344	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	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124088200-124117000	Strong transcription	Fetal Stomach	stomach
2	chr12:124088400-124116200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:124088400-124116800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:124088400-124117000	Strong transcription	Fetal Intestine Small	intestine
5	chr12:124088600-124116200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:124088600-124116200	Strong transcription	Fetal Thymus	thymus
7	chr12:124088600-124116800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:124088600-124116800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:124088600-124116800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr12:124088600-124117000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:124089000-124116200	Strong transcription	Brain Germinal Matrix	brain
12	chr12:124089200-124116200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:124089200-124116400	Strong transcription	Liver	Liver
14	chr12:124089200-124116600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:124089800-124116200	Strong transcription	Thymus	Thymus
16	chr12:124089800-124117000	Strong transcription	Placenta	Placenta
17	chr12:124090200-124116200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:124090200-124116200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:124090200-124116200	Strong transcription	Brain Anterior Caudate	brain
20	chr12:124090200-124116800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:124093600-124116200	Strong transcription	Fetal Brain Female	brain
22	chr12:124095000-124117600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:124096400-124117600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:124102200-124116800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:124102400-124117600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:124103400-124116400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:124104000-124116400	Strong transcription	Brain Hippocampus Middle	brain
28	chr12:124104000-124116600	Strong transcription	Lung	lung
29	chr12:124104400-124116200	Strong transcription	Left Ventricle	heart
30	chr12:124105200-124116200	Strong transcription	Colonic Mucosa	Colon
31	chr12:124105800-124116200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:124106000-124116600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:124106800-124117000	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:124107400-124116200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:124108400-124117000	Strong transcription	NHEK	skin
36	chr12:124108800-124116800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:124110400-124116200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:124111600-124117000	Weak transcription	Fetal Heart	heart
39	chr12:124112200-124117400	Weak transcription	Psoas Muscle	Psoas
40	chr12:124113600-124117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:124113800-124117400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:124113800-124117400	Weak transcription	Small Intestine	intestine
43	chr12:124114000-124117800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:124114800-124117600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:124115000-124117000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:124115000-124117400	Weak transcription	HUVEC	blood vessel
47	chr12:124115000-124117600	Weak transcription	Stomach Mucosa	stomach
48	chr12:124115400-124117400	Weak transcription	Right Ventricle	heart
49	chr12:124115400-124117600	Weak transcription	Esophagus	oesophagus
50	chr12:124115600-124116800	Weak transcription	GM12878-XiMat	blood

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