Variant report

Variant	rs142761065
Chromosome Location	chr3:142165290-142165291
allele	A/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	IRF1	chr3:142164528-142165312	K562	blood:	n/a	chr3:142164956-142164966 chr3:142164989-142165003 chr3:142164956-142164970 chr3:142164962-142164972 chr3:142164955-142164969 chr3:142164954-142164968 chr3:142164950-142164971 chr3:142164952-142164966 chr3:142164985-142164999 chr3:142164987-142165000 chr3:142164986-142165000 chr3:142164954-142164965 chr3:142164955-142164968 chr3:142164955-142164968 chr3:142164989-142165000 chr3:142164958-142164972 chr3:142164954-142164974 chr3:142164989-142164999
2	CREB1	chr3:142164701-142165328	GM12878	blood:	n/a	n/a
3	CHD1	chr3:142164554-142165575	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:142164605-142167361	GM12891	blood:	n/a	n/a
5	POLR2A	chr3:142164614-142167252	GM19099	blood:	n/a	n/a
6	IRF1	chr3:142164759-142165640	K562	blood:	n/a	chr3:142164956-142164966 chr3:142164989-142165003 chr3:142164956-142164970 chr3:142164962-142164972 chr3:142164955-142164969 chr3:142164954-142164968 chr3:142164950-142164971 chr3:142164952-142164966 chr3:142164985-142164999 chr3:142164987-142165000 chr3:142165513-142165525 chr3:142165552-142165566 chr3:142164986-142165000 chr3:142164954-142164965 chr3:142164955-142164968 chr3:142164955-142164968 chr3:142164989-142165000 chr3:142164958-142164972 chr3:142164954-142164974 chr3:142165303-142165319 chr3:142164989-142164999 chr3:142165552-142165565

No.	Distal block	Cell Line	Cell type
1	chr3:142164997..142168564-chr3:142170242..142173896,7	MCF-7	breast:
2	chr3:142146723..142149402-chr3:142165233..142167666,2	K562	blood:
3	chr3:142164147..142165687-chr3:142176096..142178245,2	K562	blood:
4	chr3:142164765..142166960-chr3:142189962..142191863,2	K562	blood:
5	chr3:142165266..142167494-chr3:142176108..142178776,2	K562	blood:

Variant related genes	Relation type
ENSG00000242479	TF binding region
ENSG00000114127	Chromatin interaction
ENSG00000244327	Chromatin interaction
ENSG00000175054	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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv528954	chr3:142164017-142219542	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142142200-142165400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:142150600-142165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:142154600-142166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:142160000-142166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:142160800-142165400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:142163000-142165400	Weak transcription	Placenta	Placenta
7	chr3:142163200-142167400	Active TSS	GM12878-XiMat	blood
8	chr3:142163400-142165800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:142163400-142166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:142163400-142166000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:142163400-142166000	Weak transcription	Lung	lung
12	chr3:142163600-142166000	Weak transcription	Pancreas	Pancrea
13	chr3:142164000-142165600	Enhancers	Fetal Brain Male	brain
14	chr3:142164000-142165800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:142164200-142165400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:142164200-142166000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:142164200-142166000	Flanking Active TSS	Dnd41	blood
18	chr3:142164200-142166200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr3:142164200-142166200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:142164400-142165400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:142164400-142165400	Enhancers	Aorta	Aorta
22	chr3:142164400-142165400	Flanking Active TSS	Liver	Liver
23	chr3:142164400-142165400	Enhancers	Brain Angular Gyrus	brain
24	chr3:142164400-142165400	Enhancers	Brain Substantia Nigra	brain
25	chr3:142164400-142165400	Enhancers	Colon Smooth Muscle	Colon
26	chr3:142164400-142165400	Enhancers	A549	lung
27	chr3:142164400-142165600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:142164400-142165600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr3:142164400-142165600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr3:142164400-142165600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr3:142164400-142165600	Flanking Active TSS	Osteobl	bone
32	chr3:142164400-142165800	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:142164400-142165800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr3:142164400-142166000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr3:142164400-142166000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr3:142164400-142166000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:142164400-142166000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:142164400-142166200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr3:142164400-142167600	Active TSS	Rectal Smooth Muscle	rectum
40	chr3:142164600-142165400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:142164600-142165400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:142164600-142165400	Enhancers	Fetal Lung	lung
43	chr3:142164600-142165400	Enhancers	Fetal Thymus	thymus
44	chr3:142164600-142165400	Flanking Active TSS	Hela-S3	cervix
45	chr3:142164600-142165600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:142164600-142165600	Enhancers	Fetal Heart	heart
47	chr3:142164600-142165600	Flanking Active TSS	NHEK	skin
48	chr3:142164600-142165800	Flanking Active TSS	HUVEC	blood vessel
49	chr3:142164600-142166000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr3:142164600-142166200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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