Variant report

Variant	rs28421662
Chromosome Location	chr12:122013999-122014000
allele	C/G
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	POLR2A	chr12:122011765-122017815	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:122013829-122014170	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr12:122013933-122014258	HEK293-T-REx	kidney:	n/a	chr12:122014054-122014063 chr12:122014055-122014076 chr12:122014215-122014224

No.	Distal block	Cell Line	Cell type
1	chr12:122009958..122015218-chr12:122015373..122021843,8	K562	blood:
2	chr12:122011717..122015728-chr12:122062639..122068006,6	MCF-7	breast:
3	chr12:122013141..122015598-chr12:122108838..122111528,2	MCF-7	breast:
4	chr12:121997898..122000701-chr12:122012949..122016939,4	MCF-7	breast:
5	chr12:122011245..122016704-chr12:122016774..122020216,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256742	TF binding region
ENSG00000139714	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000256742	Chromatin interaction
ENSG00000182500	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28637676	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121976600-122014600	Weak transcription	Colonic Mucosa	Colon
2	chr12:121977200-122015200	Weak transcription	Small Intestine	intestine
3	chr12:121987600-122016800	Weak transcription	Aorta	Aorta
4	chr12:121996200-122015400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:121999400-122014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:122005200-122014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:122006200-122014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:122006600-122014800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:122007000-122014600	Weak transcription	Fetal Kidney	kidney
10	chr12:122007400-122014400	Weak transcription	GM12878-XiMat	blood
11	chr12:122007600-122014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:122007600-122014600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:122007600-122014600	Weak transcription	A549	lung
14	chr12:122007600-122014600	Weak transcription	HSMM	muscle
15	chr12:122008000-122014600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:122008000-122016000	Weak transcription	Right Atrium	heart
17	chr12:122008200-122014000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:122008200-122014000	Strong transcription	Fetal Thymus	thymus
19	chr12:122008200-122014800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122008800-122014200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:122009200-122014200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:122009600-122014800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122010200-122014000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:122010800-122015200	Weak transcription	Primary B cells from cord blood	blood
25	chr12:122011200-122014000	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr12:122011200-122016200	Weak transcription	HUVEC	blood vessel
27	chr12:122011600-122014200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:122011600-122014200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:122011600-122014200	Strong transcription	Dnd41	blood
30	chr12:122011600-122014400	Strong transcription	Thymus	Thymus
31	chr12:122011800-122014000	Strong transcription	Brain Angular Gyrus	brain
32	chr12:122011800-122014200	Strong transcription	Primary T cells from cord blood	blood
33	chr12:122011800-122014200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:122011800-122014200	Strong transcription	Lung	lung
35	chr12:122011800-122014600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:122011800-122016000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr12:122011800-122016200	Genic enhancers	Fetal Intestine Small	intestine
38	chr12:122012000-122014200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:122012000-122014200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:122012000-122014200	Strong transcription	Left Ventricle	heart
41	chr12:122012200-122014000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:122012200-122014400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:122012600-122015600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:122012600-122016000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:122012600-122016400	Weak transcription	Psoas Muscle	Psoas
46	chr12:122012800-122014000	Strong transcription	Brain Anterior Caudate	brain
47	chr12:122012800-122014200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:122012800-122014400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:122012800-122014600	Weak transcription	Ovary	ovary
50	chr12:122012800-122015200	Weak transcription	Rectal Mucosa Donor 29	rectum

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