Variant report

Variant	rs73302603
Chromosome Location	chr12:48112674-48112675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
4	chr12:48110716..48112892-chr12:48170782..48173375,2	K562	blood:
5	chr12:48111612..48114264-chr12:48135856..48138068,2	K562	blood:

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

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1859256	1.00[AMR][1000 genomes]
rs57162394	1.00[AMR][1000 genomes]
rs57691959	1.00[AMR][1000 genomes]
rs58237186	1.00[AMR][1000 genomes]
rs58280987	1.00[AMR][1000 genomes]
rs58348653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58350284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58636268	1.00[AMR][1000 genomes]
rs59421933	1.00[AMR][1000 genomes]
rs60045275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60608560	1.00[AMR][1000 genomes]
rs61033936	1.00[AMR][1000 genomes]
rs61288073	1.00[AMR][1000 genomes]
rs61327127	1.00[AMR][1000 genomes]
rs61446607	1.00[AMR][1000 genomes]
rs61734364	1.00[AMR][1000 genomes]
rs61739888	1.00[AMR][1000 genomes]
rs7300107	1.00[AMR][1000 genomes]
rs7314320	1.00[AMR][1000 genomes]
rs73300649	1.00[AMR][1000 genomes]
rs73300689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302628	1.00[AMR][1000 genomes]
rs73302629	1.00[AMR][1000 genomes]
rs73302650	1.00[AMR][1000 genomes]
rs73302653	1.00[AMR][1000 genomes]
rs73302662	1.00[AMR][1000 genomes]
rs73302664	1.00[AMR][1000 genomes]
rs73302673	1.00[AMR][1000 genomes]
rs73302677	1.00[AMR][1000 genomes]
rs73302679	1.00[AMR][1000 genomes]
rs73302681	1.00[AMR][1000 genomes]
rs73302682	1.00[AMR][1000 genomes]
rs757283	1.00[AMR][1000 genomes]
rs7965816	1.00[AMR][1000 genomes]
rs877196	1.00[AMR][1000 genomes]
rs877197	1.00[AMR][1000 genomes]
rs877198	1.00[AMR][1000 genomes]
rs879177	1.00[AMR][1000 genomes]
rs879178	1.00[AMR][1000 genomes]
rs879179	1.00[AMR][1000 genomes]
rs9738787	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:88 , 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	chr12:48104600-48113000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:48108800-48112800	Enhancers	Brain Hippocampus Middle	brain
4	chr12:48108800-48112800	Enhancers	Brain Substantia Nigra	brain
5	chr12:48108800-48113000	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:48109600-48113400	Enhancers	Adipose Nuclei	Adipose
7	chr12:48109800-48112800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:48110000-48113000	Enhancers	Colon Smooth Muscle	Colon
9	chr12:48110600-48113000	Enhancers	Fetal Heart	heart
10	chr12:48111000-48113800	Enhancers	Esophagus	oesophagus
11	chr12:48111400-48116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:48111400-48124000	Weak transcription	Gastric	stomach
13	chr12:48111600-48115800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:48111800-48112800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:48111800-48114600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:48111800-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:48111800-48114800	Weak transcription	Thymus	Thymus
18	chr12:48111800-48115200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:48111800-48116000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:48111800-48117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:48112000-48113200	Weak transcription	Primary B cells from cord blood	blood
22	chr12:48112000-48113200	Weak transcription	Liver	Liver
23	chr12:48112000-48114600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:48112000-48115000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:48112000-48115000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:48112000-48115200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:48112000-48115200	Weak transcription	HSMM	muscle
28	chr12:48112000-48115200	Weak transcription	HSMMtube	muscle
29	chr12:48112000-48115400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:48112000-48115400	Weak transcription	Osteobl	bone
31	chr12:48112000-48116000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:48112000-48116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:48112000-48116400	Weak transcription	Psoas Muscle	Psoas
34	chr12:48112000-48117000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:48112000-48118200	Weak transcription	Fetal Intestine Large	intestine
36	chr12:48112000-48118400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:48112000-48120000	Weak transcription	Fetal Lung	lung
38	chr12:48112000-48120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
41	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:48112200-48112800	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:48112200-48114400	Weak transcription	Fetal Intestine Small	intestine
44	chr12:48112200-48114600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:48112200-48114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:48112200-48114800	Weak transcription	NHDF-Ad	bronchial
47	chr12:48112200-48115000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:48112200-48115000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:48112200-48115200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:48112200-48115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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