Variant report

Variant	rs559602038
Chromosome Location	chr12:123426909-123426910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123426745..123429433-chr12:123432536..123436941,4	K562	blood:
2	chr12:123424712..123426973-chr12:123428403..123431628,3	K562	blood:
3	chr12:123424761..123427438-chr12:123430033..123431700,2	K562	blood:

Variant related genes	Relation type
ENSG00000150967	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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription 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	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv976725	chr12:123412328-123429898	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv560491	chr12:123425575-123444422	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:123402800-123429200	Weak transcription	Gastric	stomach
3	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:123403000-123428800	Weak transcription	Lung	lung
5	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
6	chr12:123403400-123427000	Weak transcription	A549	lung
7	chr12:123405200-123428600	Weak transcription	NHEK	skin
8	chr12:123409400-123427600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:123411800-123428800	Weak transcription	Fetal Brain Male	brain
10	chr12:123412400-123427200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:123412800-123427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:123412800-123431800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:123413400-123427200	Weak transcription	Small Intestine	intestine
15	chr12:123413400-123427400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:123413400-123427600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:123413400-123427600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:123413600-123431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:123414000-123432400	Weak transcription	Fetal Kidney	kidney
22	chr12:123414800-123427400	Weak transcription	Spleen	Spleen
23	chr12:123414800-123427800	Weak transcription	Right Ventricle	heart
24	chr12:123415600-123429000	Weak transcription	Pancreas	Pancrea
25	chr12:123415800-123431600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123417400-123427200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:123417400-123441800	Weak transcription	Ovary	ovary
28	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
29	chr12:123417800-123427400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:123418000-123427400	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:123418400-123427200	Weak transcription	HUVEC	blood vessel
32	chr12:123420200-123427400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:123420400-123427200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:123420600-123427200	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:123420600-123428000	Weak transcription	K562	blood
36	chr12:123420800-123427200	Weak transcription	NHDF-Ad	bronchial
37	chr12:123422000-123429200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:123422400-123427400	Weak transcription	NH-A	brain
39	chr12:123422600-123427400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:123422600-123428800	Weak transcription	Osteobl	bone
41	chr12:123423000-123427200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:123423000-123427200	Weak transcription	GM12878-XiMat	blood
43	chr12:123423000-123428000	Weak transcription	Psoas Muscle	Psoas
44	chr12:123424200-123427000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:123424200-123427600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:123424200-123431000	Weak transcription	Fetal Intestine Large	intestine
47	chr12:123425000-123427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:123425200-123427600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:123425200-123427600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:123425200-123430000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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