Variant report

Variant	rs73930956
Chromosome Location	chr2:38973131-38973132
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38821957..38830238-chr2:38965333..38974515,17	K562	blood:
2	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
3	chr2:38971477..38974181-chr2:39070212..39071979,2	K562	blood:
4	chr2:38973025..38976072-chr2:38989424..38992491,3	MCF-7	breast:
5	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
6	chr2:38776554..38778945-chr2:38971889..38973441,2	K562	blood:
7	chr2:38971158..38973654-chr2:39179143..39181856,2	MCF-7	breast:
8	chr2:38798201..38801159-chr2:38970584..38973255,2	K562	blood:
9	chr2:38539761..38541976-chr2:38970662..38973423,2	K562	blood:
10	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
11	chr2:38539761..38541976-chr2:38970662..38973423,3	K562	blood:
12	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
13	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271443	Chromatin interaction
ENSG00000188010	Chromatin interaction
ENSG00000163214	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000227238	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs59737185	1.00[AFR][1000 genomes]
rs73930945	0.85[AFR][1000 genomes]
rs73930952	1.00[AFR][1000 genomes]
rs73930955	1.00[AFR][1000 genomes]
rs73930960	0.92[AFR][1000 genomes]
rs73930963	0.85[AFR][1000 genomes]
rs73930964	0.85[AFR][1000 genomes]
rs73930965	0.85[AFR][1000 genomes]
rs73930966	0.92[AFR][1000 genomes]

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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1800732	chr2:38951608-38973837	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv2763640	chr2:38954419-38977371	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv581490	chr2:38955977-38973814	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	esv1834132	chr2:38955977-38977612	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv1836070	chr2:38955977-38977612	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv2082034	chr2:38973131-38973132	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38950400-38973600	Weak transcription	Fetal Brain Male	brain
2	chr2:38956600-38974200	Strong transcription	Fetal Thymus	thymus
3	chr2:38964400-38974000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:38964600-38973800	Strong transcription	K562	blood
5	chr2:38964600-38974000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:38965400-38974800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:38965400-38974800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:38966000-38974200	Weak transcription	Right Ventricle	heart
9	chr2:38966600-38974200	Strong transcription	HMEC	breast
10	chr2:38967000-38973800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:38967000-38973800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:38967200-38974600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:38967400-38973600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:38968000-38974200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:38968000-38976000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:38968200-38974200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:38968200-38974800	Strong transcription	Osteobl	bone
18	chr2:38968200-38976200	Genic enhancers	Liver	Liver
19	chr2:38968200-38976200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:38968200-38976400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:38968400-38974200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:38968400-38974200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:38968400-38974200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:38968400-38974200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:38968400-38975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:38968400-38975200	Strong transcription	Thymus	Thymus
27	chr2:38968400-38976000	Strong transcription	Placenta	Placenta
28	chr2:38968600-38973400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:38968600-38974000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:38968600-38974000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:38968600-38974000	Strong transcription	Brain Germinal Matrix	brain
32	chr2:38968600-38974000	Weak transcription	Stomach Mucosa	stomach
33	chr2:38968600-38974200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:38968600-38974200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:38968600-38974200	Strong transcription	Fetal Brain Female	brain
36	chr2:38968600-38976600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:38968800-38973400	Strong transcription	NH-A	brain
38	chr2:38968800-38974200	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:38968800-38974800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:38968800-38975600	Strong transcription	Primary B cells from cord blood	blood
41	chr2:38968800-38976600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:38968800-38976600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:38969200-38976000	Genic enhancers	HepG2	liver
44	chr2:38969400-38974200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:38969400-38975400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:38969600-38973600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:38969800-38974200	Strong transcription	NHLF	lung
48	chr2:38969800-38975600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:38969800-38976600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:38970000-38973400	Strong transcription	Hela-S3	cervix

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