Variant report

Variant	rs141074643
Chromosome Location	chr3:142164715-142164716
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	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	RUNX3	chr3:142164588-142165210	GM12878	blood:	n/a	n/a
4	CHD1	chr3:142164554-142165575	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:142164605-142167361	GM12891	blood:	n/a	n/a
6	ARID3A	chr3:142164561-142164907	HepG2	liver:	n/a	n/a
7	BATF	chr3:142164703-142164947	GM12878	blood:	n/a	n/a
8	USF1	chr3:142164711-142164989	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr3:142164614-142167252	GM19099	blood:	n/a	n/a
10	ATF2	chr3:142164617-142165188	GM12878	blood:	n/a	n/a
11	MXI1	chr3:142164504-142165213	GM12878	blood:	n/a	n/a
12	NFIC	chr3:142164614-142165218	GM12878	blood:	n/a	n/a
13	IRF4	chr3:142164603-142165115	GM12878	blood:	n/a	chr3:142164950-142164971
14	WRNIP1	chr3:142164477-142164858	GM12878	blood:	n/a	n/a
15	BATF	chr3:142164672-142165015	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142164147..142165687-chr3:142176096..142178245,2	K562	blood:

Variant related genes	Relation type
ENSG00000242479	TF binding region
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv523596	chr3:142132749-142164735	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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:115 , 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	chr3:142149800-142165000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:142150600-142165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:142154600-142166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:142160000-142166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:142160800-142165400	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:142162400-142164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:142162600-142164800	Weak transcription	Fetal Brain Female	brain
9	chr3:142163000-142165400	Weak transcription	Placenta	Placenta
10	chr3:142163200-142165200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:142163200-142167400	Active TSS	GM12878-XiMat	blood
12	chr3:142163400-142165000	Weak transcription	Right Ventricle	heart
13	chr3:142163400-142165800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:142163400-142166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:142163400-142166000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:142163400-142166000	Weak transcription	Lung	lung
17	chr3:142163600-142166000	Weak transcription	Pancreas	Pancrea
18	chr3:142163800-142164800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:142164000-142164800	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr3:142164000-142165200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:142164000-142165600	Enhancers	Fetal Brain Male	brain
22	chr3:142164000-142165800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:142164200-142164800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr3:142164200-142164800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr3:142164200-142164800	Enhancers	Stomach Mucosa	stomach
26	chr3:142164200-142165000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr3:142164200-142165000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:142164200-142165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:142164200-142165400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:142164200-142166000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:142164200-142166000	Flanking Active TSS	Dnd41	blood
32	chr3:142164200-142166200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr3:142164200-142166200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:142164400-142164800	Enhancers	Primary B cells from cord blood	blood
35	chr3:142164400-142164800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:142164400-142164800	Enhancers	Adipose Nuclei	Adipose
37	chr3:142164400-142164800	Enhancers	Brain Germinal Matrix	brain
38	chr3:142164400-142164800	Flanking Active TSS	Colonic Mucosa	Colon
39	chr3:142164400-142164800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr3:142164400-142164800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr3:142164400-142164800	Enhancers	Stomach Smooth Muscle	stomach
42	chr3:142164400-142164800	Enhancers	HSMM	muscle
43	chr3:142164400-142164800	Flanking Active TSS	K562	blood
44	chr3:142164400-142165000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr3:142164400-142165000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:142164400-142165000	Flanking Active TSS	HepG2	liver
47	chr3:142164400-142165200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:142164400-142165200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr3:142164400-142165400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:142164400-142165400	Enhancers	Aorta	Aorta

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