Variant report

Variant	rs929269
Chromosome Location	chr12:48114761-48114762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
2	chr12:48099768..48101524-chr12:48112369..48115075,3	K562	blood:
3	chr12:48113943..48115840-chr12:48118695..48120820,2	K562	blood:
4	chr12:48113473..48116472-chr12:48126075..48128753,2	MCF-7	breast:
5	chr12:48111138..48113167-chr12:48114510..48117991,4	K562	blood:
6	chr12:48113590..48115252-chr12:48167578..48169438,2	K562	blood:
7	chr12:48112866..48115065-chr12:48225593..48227392,2	K562	blood:
8	chr12:48113366..48116147-chr12:48117513..48120473,4	MCF-7	breast:
9	chr12:48113489..48115457-chr12:48167332..48169028,2	MCF-7	breast:
10	chr12:48113943..48116894-chr12:48118403..48120820,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257433	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1046438	0.86[ASN][1000 genomes]
rs10875678	0.85[ASN][1000 genomes]
rs11168189	0.82[ASN][1000 genomes]
rs11168210	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11559971	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12301106	0.83[ASN][1000 genomes]
rs12318569	0.85[ASN][1000 genomes]
rs1237844	0.93[CHB][hapmap]
rs2057730	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2239187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285831	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3809318	0.85[ASN][1000 genomes]
rs4768161	0.85[ASN][1000 genomes]
rs4768840	0.85[ASN][1000 genomes]
rs4768841	0.88[ASN][1000 genomes]
rs4768842	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56009115	0.86[ASN][1000 genomes]
rs7294629	0.85[ASN][1000 genomes]
rs73104122	0.86[ASN][1000 genomes]
rs7312135	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs74088008	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960755	0.86[CHB][hapmap];0.86[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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
6	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:48111400-48116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:48111400-48124000	Weak transcription	Gastric	stomach
4	chr12:48111600-48115800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:48111800-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:48111800-48114800	Weak transcription	Thymus	Thymus
7	chr12:48111800-48115200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:48111800-48116000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:48111800-48117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:48112000-48115000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:48112000-48115000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:48112000-48115200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:48112000-48115200	Weak transcription	HSMM	muscle
14	chr12:48112000-48115200	Weak transcription	HSMMtube	muscle
15	chr12:48112000-48115400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:48112000-48115400	Weak transcription	Osteobl	bone
17	chr12:48112000-48116000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:48112000-48116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48112000-48116400	Weak transcription	Psoas Muscle	Psoas
20	chr12:48112000-48117000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:48112000-48118200	Weak transcription	Fetal Intestine Large	intestine
22	chr12:48112000-48118400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:48112000-48120000	Weak transcription	Fetal Lung	lung
24	chr12:48112000-48120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
27	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:48112200-48114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:48112200-48114800	Weak transcription	NHDF-Ad	bronchial
30	chr12:48112200-48115000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:48112200-48115000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:48112200-48115200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:48112200-48115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:48112200-48115200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:48112200-48116400	Weak transcription	Aorta	Aorta
36	chr12:48112200-48116400	Weak transcription	Brain Angular Gyrus	brain
37	chr12:48112200-48116400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:48112200-48117200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:48112200-48118600	Weak transcription	Stomach Mucosa	stomach
40	chr12:48112200-48119000	Weak transcription	Colonic Mucosa	Colon
41	chr12:48112200-48119200	Weak transcription	GM12878-XiMat	blood
42	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
43	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:48112400-48114800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:48112400-48115000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:48112400-48115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:48112400-48115800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:48112400-48116400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:48112600-48114800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:48112600-48115000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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