Variant report

Variant	rs142413952
Chromosome Location	chr3:48716130-48716131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48699299..48703873-chr3:48715927..48726939,20	MCF-7	breast:
2	chr3:48713537..48717616-chr3:48720627..48724588,5	MCF-7	breast:
3	chr3:48698738..48703197-chr3:48713751..48717809,8	K562	blood:

Variant related genes	Relation type
ENSG00000213672	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000008300	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	esv3362881	chr3:48715948-48720546	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48701200-48721000	Weak transcription	Fetal Brain Male	brain
2	chr3:48701600-48716800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:48701600-48718000	Weak transcription	NHDF-Ad	bronchial
4	chr3:48701600-48720800	Weak transcription	Right Atrium	heart
5	chr3:48701600-48720800	Weak transcription	HUVEC	blood vessel
6	chr3:48701800-48716800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:48701800-48721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:48702000-48716800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:48702000-48716800	Weak transcription	HSMMtube	muscle
10	chr3:48702000-48721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:48702200-48717000	Weak transcription	K562	blood
12	chr3:48702800-48717000	Weak transcription	Fetal Heart	heart
13	chr3:48705800-48720600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:48707200-48721400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:48708200-48720200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:48708200-48720200	Strong transcription	Fetal Brain Female	brain
17	chr3:48708200-48720600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:48708200-48720600	Strong transcription	Fetal Intestine Small	intestine
19	chr3:48708200-48720600	Strong transcription	Fetal Stomach	stomach
20	chr3:48708200-48721000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:48708400-48720400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:48708400-48720400	Strong transcription	Brain Germinal Matrix	brain
23	chr3:48708400-48720400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr3:48708400-48720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:48708400-48721000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:48708600-48720600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:48708800-48720600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr3:48709000-48716800	Weak transcription	A549	lung
29	chr3:48709000-48721600	Weak transcription	Psoas Muscle	Psoas
30	chr3:48709200-48720200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:48710200-48718000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:48710400-48719800	Strong transcription	Brain Cingulate Gyrus	brain
33	chr3:48710400-48721200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:48710600-48716800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:48710600-48720200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:48711000-48720200	Strong transcription	Left Ventricle	heart
37	chr3:48711000-48720400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr3:48711200-48720000	Strong transcription	Liver	Liver
39	chr3:48711200-48720000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:48711400-48717000	Strong transcription	GM12878-XiMat	blood
41	chr3:48711400-48717200	Strong transcription	Esophagus	oesophagus
42	chr3:48711400-48717200	Strong transcription	Spleen	Spleen
43	chr3:48711400-48717600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:48711400-48719200	Strong transcription	Brain Angular Gyrus	brain
45	chr3:48711400-48720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:48711400-48720000	Strong transcription	Aorta	Aorta
47	chr3:48711400-48720000	Strong transcription	Brain Substantia Nigra	brain
48	chr3:48711400-48720000	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:48711400-48720000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:48711400-48720200	Strong transcription	Placenta	Placenta

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