Variant report

Variant	rs577226075
Chromosome Location	chr12:120683204-120683205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr12:120682848-120683292	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:120682800-120683218	U87	brain:	n/a	n/a
3	BCL3	chr12:120682809-120683213	GM12878	blood:	n/a	n/a
4	PBX3	chr12:120682813-120683281	SK-N-SH	brain:	n/a	chr12:120683166-120683186 chr12:120683081-120683090
5	PBX3	chr12:120682738-120683291	SK-N-SH	brain:	n/a	chr12:120683166-120683186 chr12:120683081-120683090
6	NFATC1	chr12:120682876-120683221	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:120682938-120683285	SK-N-SH	brain:	n/a	n/a
8	SIN3AK20	chr12:120683000-120683237	PFSK-1	brain:	n/a	n/a
9	BCL3	chr12:120682827-120683248	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:120682544-120683396	U87	brain:	n/a	n/a
11	NR3C1	chr12:120682752-120683295	A549	lung:	n/a	n/a
12	EP300	chr12:120682828-120683311	SK-N-SH_RA	brain:	n/a	n/a
13	CHD1	chr12:120682708-120683396	IMR90	lung:	n/a	n/a
14	POLR2A	chr12:120682550-120683390	U87	brain:	n/a	n/a
15	POLR2A	chr12:120682828-120683206	U87	brain:	n/a	n/a
16	RCOR1	chr12:120682934-120683223	K562	blood:	n/a	n/a
17	MAZ	chr12:120682483-120683365	IMR90	lung:	n/a	n/a
18	POLR2A	chr12:120682848-120683249	PFSK-1	brain:	n/a	n/a
19	BHLHE40	chr12:120682831-120683234	K562	blood:	n/a	n/a
20	NR3C1	chr12:120682858-120683285	A549	lung:	n/a	n/a
21	EP300	chr12:120682848-120683236	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:

Variant related genes	Relation type
RPS20P31	TF binding region
ENSG00000089157	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv976654	chr12:120683141-120685568	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	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	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
5	chr12:120674400-120683400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
7	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:120676400-120685000	Genic enhancers	NHEK	skin
9	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
11	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
12	chr12:120677000-120683400	Enhancers	HSMMtube	muscle
13	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:120678200-120685200	Weak transcription	Hela-S3	cervix
15	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:120679600-120687200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:120679800-120685800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:120679800-120686000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:120680000-120684200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:120680000-120685200	Enhancers	HUVEC	blood vessel
21	chr12:120680000-120685400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:120680000-120686000	Weak transcription	Colonic Mucosa	Colon
23	chr12:120680000-120687000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:120680200-120687400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:120680400-120685800	Weak transcription	Fetal Intestine Large	intestine
26	chr12:120680400-120687400	Weak transcription	Fetal Thymus	thymus
27	chr12:120680800-120683800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:120681000-120686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:120681000-120687200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:120681600-120685200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:120681600-120685600	Weak transcription	HepG2	liver
32	chr12:120681800-120685000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:120682000-120684800	Weak transcription	Liver	Liver
34	chr12:120682000-120685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:120682000-120685000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:120682000-120689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:120682400-120683400	Enhancers	Osteobl	bone
38	chr12:120682600-120683400	Enhancers	NH-A	brain
39	chr12:120682600-120683800	Enhancers	Adipose Nuclei	Adipose
40	chr12:120682600-120684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:120682600-120684000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:120682600-120684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:120682600-120684400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:120682600-120686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:120682800-120683400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:120682800-120683400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:120682800-120683400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:120682800-120683400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:120682800-120683400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:120682800-120683400	Enhancers	Fetal Heart	heart

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