Variant report

Variant	rs353895
Chromosome Location	chr12:118633715-118633716
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	chr12:118632071..118634758-chr12:118814095..118816162,2	MCF-7	breast:
2	chr12:118626372..118631667-chr12:118631943..118636287,5	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction
ENSG00000111707	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1151900	0.85[EUR][1000 genomes]
rs1277441	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs168497	0.80[EUR][1000 genomes]
rs1726390	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1726392	0.82[ASN][1000 genomes]
rs191626	0.92[EUR][1000 genomes]
rs2650175	0.86[EUR][1000 genomes]
rs353884	0.83[EUR][1000 genomes]
rs353888	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs353891	0.82[EUR][1000 genomes]
rs353893	0.92[EUR][1000 genomes]
rs353894	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353897	0.91[EUR][1000 genomes]
rs383371	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs411828	0.83[EUR][1000 genomes]
rs424034	0.83[EUR][1000 genomes]
rs431038	0.83[EUR][1000 genomes]
rs464227	0.82[EUR][1000 genomes]
rs556081	0.81[EUR][1000 genomes]
rs61945179	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs708865	0.85[EUR][1000 genomes]
rs708867	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs708868	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs795475	0.82[ASN][1000 genomes]
rs795476	0.89[EUR][1000 genomes]
rs795478	0.82[EUR][1000 genomes]
rs795479	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs795480	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs795483	0.82[ASN][1000 genomes]
rs811247	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs904661	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:118619400-118635800	Weak transcription	Gastric	stomach
5	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
6	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:118620200-118635200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:118620200-118636800	Weak transcription	Hela-S3	cervix
9	chr12:118620200-118656400	Weak transcription	HepG2	liver
10	chr12:118621000-118682600	Weak transcription	A549	lung
11	chr12:118621400-118635800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:118622400-118643800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:118622400-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:118622600-118642000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:118623600-118642600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:118624400-118635400	Weak transcription	Small Intestine	intestine
18	chr12:118625600-118641600	Weak transcription	Stomach Mucosa	stomach
19	chr12:118627000-118634000	Weak transcription	Liver	Liver
20	chr12:118627000-118636400	Weak transcription	K562	blood
21	chr12:118628000-118634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:118628000-118635200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:118628000-118636600	Weak transcription	Colonic Mucosa	Colon
24	chr12:118628000-118636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:118628000-118636800	Weak transcription	Esophagus	oesophagus
26	chr12:118628400-118635400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:118628400-118636600	Weak transcription	Pancreas	Pancrea
28	chr12:118628400-118637400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:118628400-118638200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
31	chr12:118628600-118635400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:118628600-118635600	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:118628600-118635800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:118628600-118635800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:118628600-118635800	Weak transcription	HUVEC	blood vessel
36	chr12:118628600-118636400	Weak transcription	Right Ventricle	heart
37	chr12:118628600-118636800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:118628600-118638400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:118628600-118638400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:118628600-118638400	Weak transcription	HSMMtube	muscle
41	chr12:118628600-118640200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:118628800-118634400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:118628800-118635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:118628800-118635200	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:118628800-118635200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:118628800-118635800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:118628800-118635800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:118628800-118635800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:118628800-118635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:118628800-118635800	Weak transcription	Brain Substantia Nigra	brain

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