Variant report

Variant	rs574934139
Chromosome Location	chr12:64176107-64176108
allele	A/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	GATA3	chr12:64176068-64176194	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
2	chr12:64167616..64170565-chr12:64175638..64177734,2	MCF-7	breast:
3	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
4	chr12:64173978..64177817-chr12:64182120..64184728,4	K562	blood:

Variant related genes	Relation type
TMEM5	TF binding region
ENSG00000249753	Chromatin interaction
ENSG00000118600	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3517152	chr12:64174867-64178831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3517153	chr12:64174867-64178831	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:64174400-64176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:64174400-64177200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:64174400-64180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:64174400-64180600	Weak transcription	Gastric	stomach
6	chr12:64174400-64184000	Weak transcription	Esophagus	oesophagus
7	chr12:64174400-64184000	Weak transcription	Lung	lung
8	chr12:64174400-64189200	Weak transcription	Pancreas	Pancrea
9	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
10	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
13	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:64174600-64176200	Enhancers	Primary T cells from cord blood	blood
15	chr12:64174600-64176200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:64174600-64176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:64174600-64176200	Weak transcription	Adipose Nuclei	Adipose
18	chr12:64174600-64176200	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:64174600-64176200	Weak transcription	HSMM	muscle
20	chr12:64174600-64176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:64174600-64176400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:64174600-64176400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:64174600-64176400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:64174600-64177000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:64174600-64177400	Weak transcription	Fetal Thymus	thymus
26	chr12:64174600-64177600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:64174600-64177800	Weak transcription	Right Ventricle	heart
28	chr12:64174600-64178000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:64174600-64178000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:64174600-64180600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:64174600-64180600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:64174600-64180800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:64174600-64183800	Weak transcription	Psoas Muscle	Psoas
34	chr12:64174600-64186200	Weak transcription	Aorta	Aorta
35	chr12:64174600-64187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:64174600-64199400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:64174600-64200200	Weak transcription	HSMMtube	muscle
38	chr12:64174600-64200600	Weak transcription	Thymus	Thymus
39	chr12:64174600-64201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
41	chr12:64174800-64176200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:64174800-64176600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:64174800-64176800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:64174800-64178000	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:64174800-64199200	Weak transcription	Stomach Mucosa	stomach
46	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
48	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
49	chr12:64175000-64176200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:64175000-64176400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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