Variant report

Variant	rs11834770
Chromosome Location	chr12:48117365-48117366
allele	A/T
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	chr12:48115954..48117583-chr12:48123112..48125553,2	K562	blood:
2	chr12:48116185..48118625-chr12:48317978..48320277,2	K562	blood:
3	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
4	chr12:48116790..48119550-chr12:48135315..48137472,2	K562	blood:
5	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
6	chr12:48115974..48118719-chr12:48231014..48233815,2	K562	blood:
7	chr12:48111138..48113167-chr12:48114510..48117991,4	K562	blood:
8	chr12:48111480..48113167-chr12:48115489..48118997,3	K562	blood:
9	chr12:48116074..48118098-chr12:48152028..48153707,2	K562	blood:
10	chr12:48115323..48118041-chr12:48153022..48154829,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10875683	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs11168187	0.85[ASN][1000 genomes]
rs11168194	0.81[JPT][hapmap]
rs11168211	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11168212	0.89[ASN][1000 genomes]
rs11168219	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168220	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11830795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1235152	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12812460	0.93[ASN][1000 genomes]
rs12812960	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12819759	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12820269	0.90[ASN][1000 genomes]
rs12828238	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003471	0.89[ASN][1000 genomes]
rs2074531	0.81[ASW][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2074532	0.82[ASW][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2238144	1.00[JPT][hapmap]
rs2239188	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2283345	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2285830	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3764015	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3764016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764018	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3764019	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3764020	0.82[ASW][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4505143	0.94[ASN][1000 genomes]
rs4537844	0.90[ASN][1000 genomes]
rs6580635	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6580636	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7133585	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs726588	0.94[ASN][1000 genomes]
rs7302276	0.93[ASN][1000 genomes]
rs7306556	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs757284	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs7967336	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7967546	0.82[ASW][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7976708	0.92[AFR][1000 genomes];0.99[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:75 , 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	chr12:48111400-48124000	Weak transcription	Gastric	stomach
3	chr12:48112000-48118200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:48112000-48118400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:48112000-48120000	Weak transcription	Fetal Lung	lung
6	chr12:48112000-48120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
9	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:48112200-48118600	Weak transcription	Stomach Mucosa	stomach
11	chr12:48112200-48119000	Weak transcription	Colonic Mucosa	Colon
12	chr12:48112200-48119200	Weak transcription	GM12878-XiMat	blood
13	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
14	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:48112600-48119000	Weak transcription	Right Atrium	heart
16	chr12:48112600-48119200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:48112600-48119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:48112600-48122200	Weak transcription	Spleen	Spleen
19	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:48112800-48119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:48113000-48123400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:48113200-48117800	Strong transcription	Liver	Liver
23	chr12:48113400-48119400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:48113600-48118600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:48114000-48120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:48114200-48122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:48114400-48117400	Strong transcription	Fetal Stomach	stomach
30	chr12:48114600-48117800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:48115000-48117800	Enhancers	Brain Anterior Caudate	brain
33	chr12:48115200-48126200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:48115400-48117600	Enhancers	Brain Substantia Nigra	brain
35	chr12:48115400-48117800	Weak transcription	Fetal Intestine Small	intestine
36	chr12:48115600-48117400	Enhancers	Brain Hippocampus Middle	brain
37	chr12:48115600-48119000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:48115600-48119400	Weak transcription	HSMM	muscle
39	chr12:48115600-48123800	Weak transcription	Thymus	Thymus
40	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
43	chr12:48115800-48117600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:48115800-48119200	Weak transcription	HSMMtube	muscle
45	chr12:48115800-48119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:48115800-48119400	Weak transcription	Osteobl	bone
47	chr12:48115800-48120400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:48115800-48120800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:48116000-48117600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:48116000-48117600	Enhancers	Fetal Heart	heart

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