Variant report

Variant	rs535465765
Chromosome Location	chr12:57105843-57105844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57076071..57078890-chr12:57104142..57106874,2	K562	blood:
2	chr12:57071568..57074070-chr12:57103902..57106725,2	K562	blood:
3	chr12:57038464..57040434-chr12:57103579..57106506,2	K562	blood:
4	chr12:57080452..57082852-chr12:57101909..57106660,4	K562	blood:
5	chr12:57080638..57082220-chr12:57105324..57106849,2	K562	blood:

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000110955	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559016	chr12:57095815-57112637	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv976629	chr12:57105196-57107533	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 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	chr12:57089000-57109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:57100400-57106600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:57101400-57106200	Weak transcription	K562	blood
4	chr12:57101800-57106400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:57102400-57106400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57103000-57106400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:57103200-57106200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:57103200-57106200	Weak transcription	Fetal Brain Female	brain
9	chr12:57103200-57106400	Weak transcription	Right Ventricle	heart
10	chr12:57103200-57107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:57103400-57106400	Weak transcription	Colonic Mucosa	Colon
12	chr12:57103400-57106400	Weak transcription	Pancreas	Pancrea
13	chr12:57103600-57106200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:57103600-57106400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:57103800-57106000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:57103800-57106000	Weak transcription	Brain Anterior Caudate	brain
17	chr12:57103800-57106000	Weak transcription	Hela-S3	cervix
18	chr12:57103800-57106200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:57103800-57106200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57103800-57106400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:57103800-57106400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:57103800-57106400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:57103800-57106400	Weak transcription	Esophagus	oesophagus
24	chr12:57103800-57106400	Weak transcription	Gastric	stomach
25	chr12:57103800-57106400	Weak transcription	NHLF	lung
26	chr12:57103800-57107200	Weak transcription	Aorta	Aorta
27	chr12:57104000-57106400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:57104000-57106400	Weak transcription	Ovary	ovary
29	chr12:57104000-57106400	Weak transcription	Small Intestine	intestine
30	chr12:57104000-57114600	Weak transcription	Fetal Brain Male	brain
31	chr12:57104200-57107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:57104400-57106200	Weak transcription	Fetal Lung	lung
33	chr12:57104600-57107600	Strong transcription	Fetal Thymus	thymus
34	chr12:57104600-57108200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr12:57104600-57108600	Strong transcription	Spleen	Spleen
36	chr12:57104600-57109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:57104600-57109200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:57104600-57109400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:57104600-57109400	Strong transcription	Lung	lung
40	chr12:57104600-57109800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:57104600-57110200	Strong transcription	Fetal Stomach	stomach
42	chr12:57104600-57112600	Strong transcription	Fetal Intestine Large	intestine
43	chr12:57104600-57115000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:57104800-57108400	Strong transcription	Colon Smooth Muscle	Colon
45	chr12:57104800-57108400	Strong transcription	NHEK	skin
46	chr12:57104800-57109400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:57104800-57109600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:57104800-57109600	Strong transcription	Liver	Liver
49	chr12:57104800-57109600	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:57104800-57109600	Strong transcription	NH-A	brain

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