Variant report

Variant	rs4981012
Chromosome Location	chr12:122037227-122037228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122036694..122038396-chr12:122040924..122043659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252393	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28461264	1.00[EUR][1000 genomes]
rs28468612	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.97[EUR][1000 genomes]
rs28490151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760124	0.85[CEU][hapmap]
rs4981001	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60186830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7313954	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73227908	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73227911	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73227913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7397580	0.93[EUR][1000 genomes];0.89[ASN][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	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
2	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122020800-122040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:122028200-122038800	Weak transcription	Pancreas	Pancrea
3	chr12:122028600-122048000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:122028600-122048400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:122028800-122048400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:122028800-122049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
8	chr12:122029200-122038000	Weak transcription	NHLF	lung
9	chr12:122029200-122038200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:122029200-122038800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:122029200-122038800	Weak transcription	HSMMtube	muscle
12	chr12:122029200-122049800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:122030600-122039000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:122031200-122038600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:122033200-122049600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:122033400-122041600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:122033800-122049600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:122034000-122037800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:122034000-122046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:122034000-122048400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:122034400-122038000	Weak transcription	Dnd41	blood
22	chr12:122034600-122037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:122034600-122048400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:122034800-122040400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:122035000-122048000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:122035000-122048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:122035800-122039200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:122036000-122037800	Enhancers	Fetal Intestine Large	intestine
29	chr12:122036000-122041000	Enhancers	Fetal Intestine Small	intestine
30	chr12:122036200-122038000	Enhancers	HepG2	liver
31	chr12:122036400-122037400	Enhancers	A549	lung
32	chr12:122036400-122037400	Enhancers	K562	blood
33	chr12:122036400-122039800	Enhancers	Stomach Mucosa	stomach
34	chr12:122036400-122048000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:122036600-122038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:122036600-122040400	Weak transcription	Colonic Mucosa	Colon
37	chr12:122037000-122038600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:122037200-122038000	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:122037200-122038800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:122037200-122039000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:122037200-122039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:122037200-122040200	Weak transcription	Gastric	stomach
43	chr12:122037200-122047400	Weak transcription	Stomach Smooth Muscle	stomach

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