Variant report

Variant	rs553811844
Chromosome Location	chr12:121162340-121162341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121162269-121163936	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:121162080-121163810	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
2	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
3	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
4	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:
5	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256569	TF binding region
ACADS	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000241388	Chromatin interaction
ENSG00000135100	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:121151200-121162400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
10	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:121151800-121162400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:121151800-121162600	Strong transcription	Fetal Lung	lung
14	chr12:121151800-121162600	Strong transcription	Placenta	Placenta
15	chr12:121155000-121162600	Weak transcription	Fetal Heart	heart
16	chr12:121157200-121162800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:121157600-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:121158200-121162600	Weak transcription	Fetal Brain Male	brain
19	chr12:121158200-121163000	Weak transcription	Stomach Mucosa	stomach
20	chr12:121158400-121162600	Strong transcription	A549	lung
21	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
22	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
23	chr12:121158600-121163000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:121159000-121162400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:121159000-121162800	Strong transcription	HSMM	muscle
26	chr12:121159000-121162800	Strong transcription	NHEK	skin
27	chr12:121159200-121162400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:121159200-121162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:121159200-121162600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:121159200-121162600	Strong transcription	NHDF-Ad	bronchial
31	chr12:121159200-121162800	Strong transcription	Osteobl	bone
32	chr12:121159400-121162600	Strong transcription	Fetal Intestine Large	intestine
33	chr12:121159400-121162600	Strong transcription	Fetal Intestine Small	intestine
34	chr12:121159600-121162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:121159800-121162600	Weak transcription	Right Atrium	heart
36	chr12:121160200-121162800	Weak transcription	Pancreas	Pancrea
37	chr12:121160200-121163600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:121160400-121162400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:121160400-121162800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:121160600-121162400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:121160600-121162600	Weak transcription	Lung	lung
42	chr12:121160600-121162800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:121160600-121163000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:121160800-121162600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:121161000-121162600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:121161000-121162800	Weak transcription	HepG2	liver
47	chr12:121161000-121163000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:121161000-121163000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:121161000-121163000	Weak transcription	Colonic Mucosa	Colon
50	chr12:121161000-121163200	Weak transcription	Placenta Amnion	Placenta Amnion

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