Variant report

Variant	rs560364145
Chromosome Location	chr4:166132152-166132153
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	GATA3	chr4:166131494-166132179	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr4:166131652-166132195	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr4:166131471-166132158	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr4:166131566-166132179	T-47D	breast:	n/a	n/a
5	NR2F2	chr4:166131573-166132200	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr4:166131505-166132204	MCF-7	breast:	n/a	n/a
7	GATA3	chr4:166131434-166132215	MCF-7	breast:	n/a	n/a
8	GATA3	chr4:166131532-166132271	MCF-7	breast:	n/a	n/a
9	GATA3	chr4:166131639-166132174	T-47D	breast:	n/a	n/a
10	JUND	chr4:166131543-166132183	T-47D	breast:	n/a	n/a
11	POLR2A	chr4:166131628-166132208	SK-N-SH	brain:	n/a	n/a
12	EP300	chr4:166131545-166132213	T-47D	breast:	n/a	chr4:166132123-166132133 chr4:166131877-166131886
13	TCF12	chr4:166131519-166132232	SK-N-SH	brain:	n/a	chr4:166132124-166132133

No.	Distal block	Cell Line	Cell type
1	chr4:166131315..166133290-chr4:166248025..166250572,2	MCF-7	breast:
2	chr4:166031817..166034229-chr4:166129496..166132218,3	K562	blood:
3	chr4:166127800..166130090-chr4:166130347..166132969,2	MCF-7	breast:

Variant related genes	Relation type
TMEM192	TF binding region
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv967809	chr4:166131906-166137884	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166134600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:166129600-166137800	Weak transcription	Small Intestine	intestine
3	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
5	chr4:166129800-166132200	Enhancers	Primary B cells from peripheral blood	blood
6	chr4:166129800-166132200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:166129800-166133800	Weak transcription	Fetal Kidney	kidney
8	chr4:166129800-166142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:166130200-166132200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:166130200-166132200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:166130200-166132600	Enhancers	Primary T cells from cord blood	blood
12	chr4:166130200-166132600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:166130200-166134600	Weak transcription	A549	lung
14	chr4:166130200-166135600	Weak transcription	Osteobl	bone
15	chr4:166130200-166137600	Weak transcription	HSMMtube	muscle
16	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
17	chr4:166130400-166132200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:166130400-166132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:166130400-166133000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:166130400-166134000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:166130400-166137200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:166130400-166138000	Weak transcription	Stomach Mucosa	stomach
23	chr4:166130400-166142400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:166130400-166143400	Weak transcription	Fetal Thymus	thymus
25	chr4:166130400-166143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:166130400-166143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:166130400-166143600	Weak transcription	HSMM	muscle
28	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:166130600-166132200	Enhancers	Hela-S3	cervix
30	chr4:166130600-166132200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:166130600-166132400	Enhancers	HepG2	liver
32	chr4:166130600-166132600	Enhancers	Liver	Liver
33	chr4:166130600-166133000	Enhancers	HMEC	breast
34	chr4:166130600-166133400	Enhancers	NHEK	skin
35	chr4:166130600-166134200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:166130600-166135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:166130600-166136800	Weak transcription	Adipose Nuclei	Adipose
38	chr4:166130600-166137000	Weak transcription	NH-A	brain
39	chr4:166130600-166137800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:166130600-166142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:166130600-166142400	Weak transcription	Right Ventricle	heart
42	chr4:166130600-166142800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:166130600-166143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:166130600-166146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:166130600-166200800	Weak transcription	Lung	lung
46	chr4:166130800-166132400	Enhancers	Primary B cells from cord blood	blood
47	chr4:166130800-166132400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:166130800-166133000	Active TSS	Brain Anterior Caudate	brain
49	chr4:166130800-166135400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:166130800-166135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links