Variant report

Variant	rs375155697
Chromosome Location	chr1:185013724-185013725
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	JUND	chr1:185013647-185015660	K562	blood:	n/a	chr1:185014790-185014799
2	CEBPB	chr1:185013576-185013872	K562	blood:	n/a	n/a
3	MYC	chr1:185013714-185014257	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F6	chr1:185013601-185015698	H1-hESC	embryonic stem cell:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
5	IRF1	chr1:185013658-185013882	K562	blood:	n/a	n/a
6	RCOR1	chr1:185013628-185015659	K562	blood:	n/a	n/a
7	POLR2A	chr1:185013664-185013752	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:
2	chr1:184941138..184943515-chr1:185012025..185014366,2	K562	blood:
3	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:

Variant related genes	Relation type
RNF2	TF binding region
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv947340	chr1:185012848-185017415	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
5	esv3421775	chr1:185013354-185016202	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185010200-185014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:185010200-185014000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:185010600-185014000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:185010600-185014000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:185010600-185014000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:185012200-185014000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:185012400-185013800	Enhancers	HepG2	liver
10	chr1:185012800-185013800	Enhancers	K562	blood
11	chr1:185012800-185014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:185013000-185014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:185013400-185014000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:185013600-185013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:185013600-185013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:185013600-185013800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:185013600-185013800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:185013600-185013800	Active TSS	Fetal Intestine Small	intestine
19	chr1:185013600-185014000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:185013600-185014000	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:185013600-185014000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:185013600-185014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:185013600-185014000	Active TSS	Fetal Kidney	kidney
24	chr1:185013600-185014000	Enhancers	Fetal Stomach	stomach
25	chr1:185013600-185014000	Active TSS	NHDF-Ad	bronchial
26	chr1:185013600-185016000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:185013600-185016200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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