Variant report

Variant	rs187951013
Chromosome Location	chr3:142165432-142165433
allele	A/C
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	CHD1	chr3:142164554-142165575	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:142164605-142167361	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:142164614-142167252	GM19099	blood:	n/a	n/a
4	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
ENSG00000175054	Chromatin interaction
ENSG00000114127	Chromatin interaction
ENSG00000244327	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142154600-142166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:142160000-142166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:142163200-142167400	Active TSS	GM12878-XiMat	blood
4	chr3:142163400-142165800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:142163400-142166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:142163400-142166000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:142163400-142166000	Weak transcription	Lung	lung
8	chr3:142163600-142166000	Weak transcription	Pancreas	Pancrea
9	chr3:142164000-142165600	Enhancers	Fetal Brain Male	brain
10	chr3:142164000-142165800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:142164200-142166000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:142164200-142166000	Flanking Active TSS	Dnd41	blood
13	chr3:142164200-142166200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr3:142164200-142166200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:142164400-142165600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:142164400-142165600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr3:142164400-142165600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr3:142164400-142165600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr3:142164400-142165600	Flanking Active TSS	Osteobl	bone
20	chr3:142164400-142165800	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:142164400-142165800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr3:142164400-142166000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr3:142164400-142166000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr3:142164400-142166000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:142164400-142166000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:142164400-142166200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:142164400-142167600	Active TSS	Rectal Smooth Muscle	rectum
28	chr3:142164600-142165600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:142164600-142165600	Enhancers	Fetal Heart	heart
30	chr3:142164600-142165600	Flanking Active TSS	NHEK	skin
31	chr3:142164600-142165800	Flanking Active TSS	HUVEC	blood vessel
32	chr3:142164600-142166000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr3:142164600-142166200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr3:142164600-142167200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:142164600-142167600	Active TSS	Fetal Intestine Small	intestine
36	chr3:142164600-142167800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:142164800-142165600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:142164800-142165600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:142164800-142165600	Weak transcription	Stomach Mucosa	stomach
40	chr3:142164800-142165800	Weak transcription	Left Ventricle	heart
41	chr3:142164800-142165800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:142164800-142165800	Flanking Active TSS	NH-A	brain
43	chr3:142164800-142166000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr3:142164800-142167200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:142164800-142167400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:142164800-142167600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr3:142164800-142167600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:142164800-142167600	Active TSS	Fetal Intestine Large	intestine
49	chr3:142164800-142167600	Active TSS	Ovary	ovary
50	chr3:142164800-142167600	Active TSS	HSMMtube	muscle

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