Variant report

Variant	rs273992
Chromosome Location	chr7:137627646-137627647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137624157..137626644-chr7:137626697..137629114,2	K562	blood:
2	chr7:137627223..137629575-chr7:137685502..137688202,2	K562	blood:
3	chr7:137627051..137629539-chr7:137676163..137677717,2	K562	blood:
4	chr7:137626054..137628754-chr7:137635805..137637429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122787	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs110595	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs112417	0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs273974	0.81[ASN][1000 genomes]
rs273975	0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs273976	0.83[ASN][1000 genomes]
rs273977	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273978	0.80[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273981	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273983	0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273984	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273985	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273986	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273988	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273989	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273990	0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs273991	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273994	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273995	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273996	0.93[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs273998	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs273999	0.81[EUR][1000 genomes]
rs274000	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs274001	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs274003	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs274004	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs274005	0.86[JPT][hapmap]
rs274008	0.86[JPT][hapmap]
rs274009	0.86[JPT][hapmap]
rs274010	0.86[JPT][hapmap]
rs274012	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs9886131	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:137619400-137628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:137621800-137628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:137621800-137629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:137622200-137627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:137622200-137628000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:137622200-137628000	Weak transcription	Fetal Lung	lung
14	chr7:137622200-137628000	Weak transcription	HUVEC	blood vessel
15	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
16	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:137622400-137627800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:137622400-137627800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:137622400-137628600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:137623000-137627800	Weak transcription	GM12878-XiMat	blood
23	chr7:137623000-137628200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:137623800-137628200	Enhancers	Fetal Muscle Leg	muscle
25	chr7:137624000-137628800	Enhancers	Ovary	ovary
26	chr7:137624000-137629000	Enhancers	Fetal Heart	heart
27	chr7:137624000-137629200	Enhancers	Placenta	Placenta
28	chr7:137624000-137629400	Enhancers	Fetal Intestine Large	intestine
29	chr7:137624200-137629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:137624400-137629200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr7:137624400-137629400	Enhancers	Fetal Intestine Small	intestine
33	chr7:137624600-137629200	Enhancers	Stomach Mucosa	stomach
34	chr7:137624800-137628200	Enhancers	HSMMtube	muscle
35	chr7:137624800-137629400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr7:137625000-137627800	Enhancers	Right Ventricle	heart
37	chr7:137625000-137629000	Enhancers	Small Intestine	intestine
38	chr7:137625200-137629200	Enhancers	Pancreas	Pancrea
39	chr7:137625400-137628200	Genic enhancers	K562	blood
40	chr7:137625400-137628800	Enhancers	Psoas Muscle	Psoas
41	chr7:137625400-137629000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:137625800-137629400	Enhancers	Colon Smooth Muscle	Colon
43	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:137626000-137627800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:137626000-137627800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:137626000-137627800	Genic enhancers	HepG2	liver
48	chr7:137626000-137629000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:137626000-137629200	Enhancers	Fetal Stomach	stomach
50	chr7:137626000-137629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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