Variant report

Variant	rs61667355
Chromosome Location	chr12:121969206-121969207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121956002..121958678-chr12:121968184..121970506,2	MCF-7	breast:
2	chr12:121968721..121970386-chr12:121980067..121981656,2	MCF-7	breast:
3	chr12:121966142..121973158-chr12:121973289..121976781,9	MCF-7	breast:
4	chr12:121963430..121965799-chr12:121969024..121970843,2	K562	blood:
5	chr12:121953228..121956338-chr12:121967346..121970306,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28387040	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28508242	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28538950	0.87[EUR][1000 genomes]
rs28617424	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28620034	0.88[ASN][1000 genomes]
rs28637695	0.89[ASN][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	nsv560457	chr12:121956483-121976176	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
3	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121932000-121974400	Weak transcription	NHEK	skin
2	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
3	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
5	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
6	chr12:121947800-121969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
10	chr12:121953400-121970600	Strong transcription	Fetal Intestine Small	intestine
11	chr12:121957400-121973200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:121959200-121974000	Weak transcription	Aorta	Aorta
13	chr12:121959400-121972800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:121961400-121970600	Weak transcription	Colonic Mucosa	Colon
15	chr12:121963000-121970200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:121963000-121971000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:121963000-121973600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:121966400-121973600	Weak transcription	Esophagus	oesophagus
19	chr12:121967800-121969400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:121967800-121970200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr12:121968000-121969400	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:121968000-121969400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:121968000-121969600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:121968000-121970400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:121968200-121969800	Enhancers	Primary T cells from cord blood	blood
26	chr12:121968200-121970200	Enhancers	Primary B cells from cord blood	blood
27	chr12:121968200-121970600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:121968200-121974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:121968400-121969400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:121968400-121972400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:121968400-121973000	Genic enhancers	Fetal Thymus	thymus
32	chr12:121968600-121969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:121968600-121969400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:121968600-121969400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:121968600-121969400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:121968600-121969400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:121968600-121969400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:121968600-121969400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr12:121968600-121969400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:121968600-121969400	Enhancers	A549	lung
41	chr12:121968600-121969400	Genic enhancers	Dnd41	blood
42	chr12:121968600-121969600	Genic enhancers	H1 Cell Line	embryonic stem cell
43	chr12:121968600-121969600	Enhancers	Placenta	Placenta
44	chr12:121968600-121969600	Enhancers	Spleen	Spleen
45	chr12:121968600-121969800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:121968600-121969800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:121968600-121970200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:121968600-121970400	Strong transcription	Brain Germinal Matrix	brain
49	chr12:121968600-121970400	Strong transcription	Fetal Brain Female	brain
50	chr12:121968600-121971800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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