Variant report

Variant	rs35961650
Chromosome Location	chr12:56411856-56411857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56409853..56412633-chr12:56413115..56416676,5	K562	blood:
2	chr12:56410866..56413481-chr12:56435830..56438234,2	K562	blood:
3	chr12:56389168..56393063-chr12:56410604..56414258,3	K562	blood:
4	chr12:56410922..56412613-chr12:56435767..56437391,2	MCF-7	breast:
5	chr12:56404010..56405727-chr12:56409399..56413302,3	MCF-7	breast:
6	chr12:56400079..56406275-chr12:56406695..56413732,8	MCF-7	breast:
7	chr12:56410592..56413106-chr5:6632207..6633783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123411	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000145545	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000037474	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12099979	0.94[EUR][1000 genomes]
rs12810011	0.94[EUR][1000 genomes]
rs12815302	0.89[EUR][1000 genomes]
rs12815387	0.94[EUR][1000 genomes]
rs12815488	0.94[EUR][1000 genomes]
rs12818756	0.94[EUR][1000 genomes]
rs12831468	0.94[EUR][1000 genomes]
rs1614219	0.96[EUR][1000 genomes]
rs1689511	0.93[EUR][1000 genomes]
rs1701706	0.93[EUR][1000 genomes]
rs17118262	0.94[EUR][1000 genomes]
rs2131569	0.94[EUR][1000 genomes]
rs2456972	0.96[EUR][1000 genomes]
rs2658479	1.00[EUR][1000 genomes]
rs34228181	0.94[EUR][1000 genomes]
rs34303864	0.94[EUR][1000 genomes]
rs34406511	0.94[EUR][1000 genomes]
rs34485293	0.93[EUR][1000 genomes]
rs34507011	0.93[EUR][1000 genomes]
rs34602183	0.91[EUR][1000 genomes]
rs34650555	0.94[EUR][1000 genomes]
rs34921584	0.94[EUR][1000 genomes]
rs35485002	0.98[EUR][1000 genomes]
rs35662491	0.80[EUR][1000 genomes]
rs35666826	0.83[EUR][1000 genomes]
rs4759022	0.94[EUR][1000 genomes]
rs4759239	1.00[EUR][1000 genomes]
rs71459334	0.94[EUR][1000 genomes]
rs71459336	0.93[EUR][1000 genomes]
rs71459339	0.94[EUR][1000 genomes]
rs71459342	0.83[EUR][1000 genomes]
rs7298818	0.89[EUR][1000 genomes]
rs7300772	0.96[EUR][1000 genomes]
rs772919	0.95[EUR][1000 genomes]
rs772922	0.93[EUR][1000 genomes]
rs772923	0.94[EUR][1000 genomes]
rs773115	0.89[EUR][1000 genomes]
rs7963590	0.83[EUR][1000 genomes]
rs7977537	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35961650	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56402000-56418600	Weak transcription	Gastric	stomach
2	chr12:56402200-56412600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:56402200-56413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:56402200-56413400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:56402200-56413800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:56402200-56413800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:56402200-56414000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:56402200-56414000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:56402200-56414200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:56402200-56414200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:56402200-56414400	Weak transcription	Primary B cells from cord blood	blood
12	chr12:56402200-56414400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:56402200-56414400	Weak transcription	Brain Angular Gyrus	brain
14	chr12:56402200-56414400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:56402200-56414400	Weak transcription	Left Ventricle	heart
16	chr12:56402200-56414400	Weak transcription	Right Ventricle	heart
17	chr12:56402200-56414400	Weak transcription	Spleen	Spleen
18	chr12:56402200-56414600	Weak transcription	Thymus	Thymus
19	chr12:56402200-56415000	Weak transcription	Lung	lung
20	chr12:56402200-56415200	Weak transcription	NH-A	brain
21	chr12:56402200-56418400	Weak transcription	Pancreas	Pancrea
22	chr12:56402200-56418400	Weak transcription	HSMMtube	muscle
23	chr12:56402200-56434800	Weak transcription	Psoas Muscle	Psoas
24	chr12:56402400-56412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:56402400-56412000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:56402400-56412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:56402400-56413200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:56402400-56413400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:56402400-56413400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:56402400-56413400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:56402400-56413600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:56402400-56413600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:56402400-56413600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:56402400-56413600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:56402400-56413600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:56402400-56413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:56402400-56413600	Weak transcription	Fetal Brain Male	brain
38	chr12:56402400-56413800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:56402400-56413800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:56402400-56414000	Weak transcription	Primary T cells from cord blood	blood
41	chr12:56402400-56414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:56402400-56414000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:56402400-56414000	Weak transcription	NHLF	lung
44	chr12:56402400-56414200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:56402400-56414400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:56402400-56414400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:56402400-56414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:56402400-56414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:56402400-56414800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:56402400-56415600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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