Variant report

Variant	rs7071776
Chromosome Location	chr10:99176115-99176116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99165782..99177128-chr10:99179856..99189832,30	MCF-7	breast:
2	chr10:99173253..99176623-chr10:99184146..99187846,4	K562	blood:
3	chr10:99174155..99176594-chr10:99178151..99179962,2	MCF-7	breast:
4	chr10:99173227..99177887-chr10:99178891..99183269,7	K562	blood:
5	chr10:99172474..99176419-chr10:99183924..99185972,3	K562	blood:
6	chr10:99167036..99170302-chr10:99173339..99176571,3	MCF-7	breast:
7	chr10:99172460..99176520-chr10:99201147..99207313,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224474	Chromatin interaction
ENSG00000200737	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000171311	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11189211	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11189214	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11189221	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11189223	0.87[EUR][1000 genomes]
rs2861952	0.90[EUR][1000 genomes]

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	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7071776	RRP12	cis	Heart Left Ventricle	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99161600-99178800	Weak transcription	Fetal Stomach	stomach
2	chr10:99161600-99185200	Weak transcription	Pancreas	Pancrea
3	chr10:99167400-99176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:99167400-99178000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:99167400-99179000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:99167400-99185200	Weak transcription	Fetal Lung	lung
7	chr10:99167400-99185400	Weak transcription	Gastric	stomach
8	chr10:99167600-99177800	Weak transcription	Fetal Intestine Large	intestine
9	chr10:99167600-99178000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:99167600-99178400	Weak transcription	Right Atrium	heart
11	chr10:99167600-99185200	Weak transcription	Fetal Intestine Small	intestine
12	chr10:99167600-99185200	Weak transcription	Left Ventricle	heart
13	chr10:99167800-99178000	Weak transcription	A549	lung
14	chr10:99168800-99178000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:99171400-99177800	Weak transcription	Fetal Kidney	kidney
16	chr10:99171400-99179400	Weak transcription	Spleen	Spleen
17	chr10:99171400-99185200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:99171600-99178000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:99172400-99176800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:99172400-99177200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr10:99172400-99177400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr10:99172600-99177400	Enhancers	Fetal Thymus	thymus
23	chr10:99172800-99177000	Enhancers	Thymus	Thymus
24	chr10:99172800-99178200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr10:99173000-99176400	Weak transcription	Placenta	Placenta
26	chr10:99173200-99182800	Weak transcription	HUVEC	blood vessel
27	chr10:99173600-99178000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:99173800-99176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:99173800-99176400	Weak transcription	Primary B cells from cord blood	blood
30	chr10:99173800-99178000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:99173800-99178200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:99173800-99182400	Weak transcription	Esophagus	oesophagus
33	chr10:99174000-99178000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:99174000-99178200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr10:99174000-99178200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:99174000-99185000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:99174200-99176200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr10:99174200-99176200	Weak transcription	Dnd41	blood
39	chr10:99174200-99178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:99174200-99178000	Weak transcription	GM12878-XiMat	blood
41	chr10:99174200-99178200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:99174200-99179000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:99174200-99183000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr10:99174200-99184800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:99174200-99185000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:99174400-99176200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:99174400-99176400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr10:99174400-99178000	Weak transcription	Stomach Mucosa	stomach
49	chr10:99174800-99176200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:99174800-99176200	Weak transcription	HepG2	liver

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