Variant report

Variant	rs576863066
Chromosome Location	chr12:4628179-4628180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
3	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
4	chr12:4594400-4646400	Weak transcription	NHLF	lung
5	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:4595400-4628600	Weak transcription	A549	lung
7	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
8	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
10	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
13	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:4608600-4628800	Weak transcription	Gastric	stomach
17	chr12:4608600-4629000	Weak transcription	Brain Germinal Matrix	brain
18	chr12:4608600-4629400	Weak transcription	Spleen	Spleen
19	chr12:4609000-4633400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:4609600-4640400	Weak transcription	Fetal Kidney	kidney
21	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
22	chr12:4609800-4640800	Weak transcription	Fetal Brain Female	brain
23	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:4611200-4628800	Weak transcription	Fetal Stomach	stomach
25	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:4611600-4628800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:4612600-4629000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:4613600-4631000	Weak transcription	HUVEC	blood vessel
29	chr12:4614200-4628800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:4614400-4628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:4614400-4628600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:4615000-4633200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:4615000-4642200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:4615000-4646400	Weak transcription	Fetal Heart	heart
35	chr12:4616200-4630600	Weak transcription	Fetal Lung	lung
36	chr12:4616400-4628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:4616400-4629400	Weak transcription	Fetal Intestine Small	intestine
38	chr12:4616400-4634600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:4616400-4640600	Weak transcription	HSMMtube	muscle
40	chr12:4616400-4646000	Weak transcription	HepG2	liver
41	chr12:4617000-4628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:4617000-4633600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:4617000-4639800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:4617000-4646600	Weak transcription	NHEK	skin
45	chr12:4617400-4631600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:4617600-4628800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:4617600-4628800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:4617600-4631400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:4617600-4639800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:4618000-4628200	Weak transcription	Primary T cells from cord blood	blood

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