Variant report

Variant	rs10267419
Chromosome Location	chr7:138553336-138553337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138553030..138555194-chr7:138559442..138562289,2	MCF-7	breast:
2	chr7:138553022..138556430-chr7:138558165..138561303,4	K562	blood:

Variant related genes	Relation type
ENSG00000199646	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10268658	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674105	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17160581	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942581	0.83[ASN][1000 genomes]
rs6948271	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958680	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9918590	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9918611	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918676	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918678	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1800954	chr7:138541488-138557718	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138515800-138554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
5	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
6	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
8	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
9	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
11	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
12	chr7:138539200-138557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:138540200-138556600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:138541400-138554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:138542600-138568400	Weak transcription	HepG2	liver
17	chr7:138543000-138558600	Strong transcription	Fetal Stomach	stomach
18	chr7:138543000-138569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:138543400-138555400	Weak transcription	Fetal Brain Male	brain
20	chr7:138543400-138560000	Weak transcription	Dnd41	blood
21	chr7:138543400-138561200	Weak transcription	HSMM	muscle
22	chr7:138543400-138565800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:138543600-138556600	Strong transcription	Brain Germinal Matrix	brain
24	chr7:138543600-138556600	Strong transcription	Fetal Brain Female	brain
25	chr7:138543800-138561000	Weak transcription	NHDF-Ad	bronchial
26	chr7:138544400-138565800	Weak transcription	Brain Substantia Nigra	brain
27	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
28	chr7:138544800-138557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:138545600-138554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:138546000-138566200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:138546200-138554200	Weak transcription	Esophagus	oesophagus
33	chr7:138546200-138554200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:138546200-138555800	Weak transcription	Right Ventricle	heart
35	chr7:138546200-138569400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:138546200-138571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:138547000-138565400	Weak transcription	Right Atrium	heart
38	chr7:138547200-138561200	Weak transcription	NHLF	lung
39	chr7:138547400-138557000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:138547800-138556200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:138548400-138556400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:138548400-138556600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
44	chr7:138549400-138555200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:138549600-138560200	Weak transcription	Osteobl	bone
46	chr7:138549800-138556800	Weak transcription	Colonic Mucosa	Colon
47	chr7:138550200-138554400	Weak transcription	NHEK	skin
48	chr7:138550200-138556200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:138550200-138557400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:138550400-138557600	Weak transcription	HMEC	breast

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