Variant report

Variant	rs140068238
Chromosome Location	chr12:62657121-62657122
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	IRF1	chr12:62656717-62657541	K562	blood:	n/a	chr12:62657275-62657286 chr12:62657520-62657533 chr12:62657521-62657531 chr12:62657521-62657535 chr12:62657517-62657531 chr12:62657520-62657533
2	TBL1XR1	chr12:62656745-62657843	K562	blood:	n/a	n/a
3	IRF1	chr12:62656450-62657212	K562	blood:	n/a	n/a
4	ARID3A	chr12:62656748-62657216	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:62656909..62660165-chr12:62669931..62675800,5	K562	blood:
2	chr12:62655605..62659464-chr12:62666404..62669367,3	MCF-7	breast:
3	chr12:62652133..62655871-chr12:62655983..62662487,11	MCF-7	breast:

Variant related genes	Relation type
FAM19A2	TF binding region
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62652200-62657600	Active TSS	GM12878-XiMat	blood
2	chr12:62654800-62660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62655000-62657400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr12:62655000-62657600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:62655000-62657800	Weak transcription	Gastric	stomach
6	chr12:62655000-62659400	Weak transcription	Esophagus	oesophagus
7	chr12:62655000-62663400	Weak transcription	Lung	lung
8	chr12:62655200-62657200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr12:62655200-62657600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:62655200-62658400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:62655400-62657800	Enhancers	Fetal Brain Male	brain
12	chr12:62655400-62658200	Enhancers	Colon Smooth Muscle	Colon
13	chr12:62655400-62660800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:62655400-62685600	Weak transcription	HSMM	muscle
15	chr12:62655600-62661400	Weak transcription	NH-A	brain
16	chr12:62655800-62657200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:62655800-62657200	Enhancers	NHEK	skin
18	chr12:62655800-62657400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:62655800-62658400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:62655800-62659400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:62655800-62661200	Weak transcription	Osteobl	bone
22	chr12:62656000-62657400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:62656000-62657400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:62656000-62657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:62656000-62657800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:62656000-62657800	Weak transcription	Colonic Mucosa	Colon
27	chr12:62656000-62657800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:62656000-62658200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:62656000-62658800	Weak transcription	Brain Substantia Nigra	brain
30	chr12:62656000-62660800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:62656000-62661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:62656000-62661200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:62656000-62661400	Weak transcription	Stomach Mucosa	stomach
34	chr12:62656000-62662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:62656000-62663200	Weak transcription	Placenta	Placenta
36	chr12:62656000-62664800	Weak transcription	Fetal Stomach	stomach
37	chr12:62656000-62665400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
39	chr12:62656200-62657400	Enhancers	Fetal Heart	heart
40	chr12:62656200-62657800	Weak transcription	Fetal Thymus	thymus
41	chr12:62656200-62657800	Weak transcription	Spleen	Spleen
42	chr12:62656200-62658000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:62656200-62659800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:62656200-62661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:62656200-62661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:62656400-62657200	Weak transcription	A549	lung
47	chr12:62656400-62657800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:62656400-62658000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr12:62656400-62658200	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr12:62656400-62661200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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