Variant report

Variant	rs2237092
Chromosome Location	chr6:13709180-13709181
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13693992..13697221-chr6:13708052..13711450,4	MCF-7	breast:
2	chr6:13678292..13681247-chr6:13708035..13710228,2	MCF-7	breast:
3	chr6:13614699..13617561-chr6:13709091..13711780,4	K562	blood:
4	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
5	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
6	chr6:13708783..13709718-chr6:13814193..13814871,2	K562	blood:
7	chr6:13707885..13710532-chr6:13710566..13713183,2	MCF-7	breast:
8	chr6:13708644..13711231-chr6:13725404..13728369,2	MCF-7	breast:
9	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
10	chr6:13709180..13711346-chr6:13748114..13750460,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261071	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000010017	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10807467	0.89[YRI][hapmap]
rs10948804	0.90[YRI][hapmap]
rs10948811	0.92[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11755634	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11962124	0.87[YRI][hapmap]
rs11970591	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1362519	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1362520	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573702	0.92[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2071836	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2080415	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2841514	0.86[YRI][hapmap]
rs2841517	0.86[YRI][hapmap]
rs3757260	0.86[YRI][hapmap]
rs3800503	0.89[YRI][hapmap]
rs3846912	0.96[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3906327	0.96[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4715455	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59120082	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458997	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6459003	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6459020	0.96[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6459025	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6899402	0.86[YRI][hapmap]
rs6911121	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6915775	0.81[CEU][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6940759	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829117	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72831038	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7741241	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7744218	0.96[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13686400-13709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:13700800-13710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:13703800-13710800	Weak transcription	Spleen	Spleen
4	chr6:13704200-13709400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:13707600-13712600	Active TSS	GM12878-XiMat	blood
6	chr6:13707800-13713000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:13708200-13709200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:13708200-13709200	Flanking Active TSS	Fetal Lung	lung
9	chr6:13708200-13709200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr6:13708200-13709200	Enhancers	Small Intestine	intestine
11	chr6:13708200-13709200	Flanking Active TSS	HepG2	liver
12	chr6:13708200-13709200	Flanking Active TSS	NHEK	skin
13	chr6:13708200-13709400	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:13708200-13709400	Enhancers	Stomach Mucosa	stomach
15	chr6:13708200-13709400	Flanking Active TSS	Hela-S3	cervix
16	chr6:13708200-13709600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:13708200-13709800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr6:13708200-13709800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:13708200-13710000	Flanking Active TSS	Dnd41	blood
20	chr6:13708200-13710200	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:13708200-13710600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr6:13708200-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:13708400-13709200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:13708400-13709200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:13708400-13709200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:13708400-13709200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:13708400-13709200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr6:13708400-13709200	Flanking Active TSS	Fetal Heart	heart
29	chr6:13708400-13709200	Enhancers	Gastric	stomach
30	chr6:13708400-13709200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:13708400-13709200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:13708400-13709200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr6:13708400-13709200	Flanking Active TSS	HSMM	muscle
34	chr6:13708400-13709200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr6:13708400-13709400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:13708400-13709600	Flanking Active TSS	Osteobl	bone
37	chr6:13708400-13709800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr6:13708400-13710800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:13708400-13710800	Flanking Active TSS	Liver	Liver
40	chr6:13708400-13710800	Flanking Active TSS	HUVEC	blood vessel
41	chr6:13708400-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:13708400-13711000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr6:13708400-13711200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:13708400-13713000	Active TSS	HSMMtube	muscle
45	chr6:13708400-13713200	Active TSS	NHLF	lung
46	chr6:13708600-13709200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:13708600-13709200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr6:13708600-13709200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr6:13708600-13709200	Active TSS	Lung	lung
50	chr6:13708600-13709200	Enhancers	A549	lung

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