Variant report

Variant	rs537127376
Chromosome Location	chr12:33049284-33049285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33049077..33050069-chr16:2317510..2318347,2	Hela-S3	cervix:
2	chr12:33049269..33050202-chr17:42422178..42423144,2	Hela-S3	cervix:
3	chr12:32908157..32910268-chr12:33048253..33050625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207715	Chromatin interaction
ENSG00000260778	Chromatin interaction
ENSG00000139131	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000030582	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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3436441	chr12:33048510-33051058	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33044600-33050600	Active TSS	Right Atrium	heart
2	chr12:33045400-33051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:33046800-33050600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:33047000-33050200	Active TSS	Duodenum Mucosa	Duodenum
5	chr12:33047200-33050400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33047200-33050400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:33047400-33050000	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:33047400-33050200	Active TSS	Stomach Mucosa	stomach
9	chr12:33047600-33049600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr12:33047600-33050200	Active TSS	Fetal Heart	heart
11	chr12:33047800-33050200	Active TSS	HMEC	breast
12	chr12:33047800-33050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:33047800-33050600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr12:33048200-33049600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:33048200-33050600	Active TSS	Ovary	ovary
16	chr12:33048200-33051200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:33048400-33049400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:33048400-33049400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:33048400-33049400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:33048400-33049400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr12:33048400-33050000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:33048400-33050000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr12:33048400-33050200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:33048400-33050200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr12:33048400-33050400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:33048400-33050400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:33048400-33050400	Active TSS	Fetal Intestine Small	intestine
28	chr12:33048400-33050600	Active TSS	Fetal Kidney	kidney
29	chr12:33048400-33050600	Bivalent/Poised TSS	Thymus	Thymus
30	chr12:33048400-33051000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:33048600-33049400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr12:33048600-33049400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr12:33048600-33049400	Bivalent/Poised TSS	Fetal Thymus	thymus
34	chr12:33048600-33049400	Enhancers	Spleen	Spleen
35	chr12:33048600-33049600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:33048600-33049600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:33048600-33049600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
38	chr12:33048600-33049800	Active TSS	Psoas Muscle	Psoas
39	chr12:33048600-33050000	Active TSS	Gastric	stomach
40	chr12:33048600-33050200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:33048600-33050200	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr12:33048600-33050200	Active TSS	NHEK	skin
43	chr12:33048600-33050400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:33048600-33050400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:33048600-33050400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:33048600-33050400	Bivalent/Poised TSS	Left Ventricle	heart
47	chr12:33048800-33049400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:33048800-33049400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr12:33048800-33049400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr12:33048800-33049400	Bivalent Enhancer	Fetal Brain Male	brain

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