Variant report

Variant	rs7300107
Chromosome Location	chr12:48130773-48130774
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48119660..48121319-chr12:48130361..48132354,2	MCF-7	breast:
2	chr12:48128880..48137705-chr12:48169546..48175532,12	K562	blood:
3	chr12:48129196..48131139-chr12:48171039..48173177,2	K562	blood:
4	chr12:48129537..48131275-chr12:48138063..48140077,2	MCF-7	breast:
5	chr12:48129185..48133424-chr12:48134380..48137725,4	MCF-7	breast:
6	chr12:48125574..48127133-chr12:48129980..48132497,2	MCF-7	breast:
7	chr12:48130227..48133339-chr12:48139533..48144417,5	K562	blood:
8	chr12:48129813..48131896-chr12:48165399..48167860,2	K562	blood:
9	chr12:48129040..48130842-chr12:48134201..48136618,2	K562	blood:
10	chr12:48130735..48132314-chr12:48133674..48136092,2	MCF-7	breast:
11	chr12:48129348..48131472-chr12:48212489..48214379,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000211584	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1859256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57162394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57691959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58232701	1.00[AFR][1000 genomes]
rs58237186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58280987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58348653	1.00[AMR][1000 genomes]
rs58350284	1.00[AMR][1000 genomes]
rs58636268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59421933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60045275	1.00[AMR][1000 genomes]
rs60186089	0.86[AFR][1000 genomes]
rs60608560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61033936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61288073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61327127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61446607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61734364	1.00[AMR][1000 genomes]
rs61739888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7308032	0.94[AFR][1000 genomes]
rs7314320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300649	1.00[AMR][1000 genomes]
rs73300689	1.00[AMR][1000 genomes]
rs73300701	1.00[AMR][1000 genomes]
rs73302603	1.00[AMR][1000 genomes]
rs73302628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302698	0.92[AFR][1000 genomes]
rs757283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965816	1.00[AMR][1000 genomes]
rs877196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs877197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs877198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9738787	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:48125400-48132200	Enhancers	Fetal Muscle Leg	muscle
8	chr12:48125600-48130800	Enhancers	Brain Hippocampus Middle	brain
9	chr12:48125600-48132200	Enhancers	Brain Substantia Nigra	brain
10	chr12:48126800-48132400	Enhancers	Brain Angular Gyrus	brain
11	chr12:48126800-48133400	Enhancers	Ovary	ovary
12	chr12:48127000-48134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:48127600-48135800	Enhancers	Fetal Muscle Trunk	muscle
14	chr12:48128000-48132000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:48128000-48132600	Enhancers	Brain Anterior Caudate	brain
16	chr12:48128200-48130800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:48128200-48131000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:48128200-48131600	Enhancers	Fetal Lung	lung
19	chr12:48128200-48132600	Enhancers	Fetal Heart	heart
20	chr12:48128200-48132600	Enhancers	Left Ventricle	heart
21	chr12:48128200-48135600	Enhancers	Right Atrium	heart
22	chr12:48128400-48130800	Weak transcription	HUVEC	blood vessel
23	chr12:48128400-48131400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:48128400-48131400	Enhancers	Esophagus	oesophagus
25	chr12:48128400-48132000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:48128400-48135000	Weak transcription	NHEK	skin
27	chr12:48128600-48130800	Enhancers	Right Ventricle	heart
28	chr12:48128600-48131200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:48128600-48131600	Enhancers	Colonic Mucosa	Colon
30	chr12:48128600-48131800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:48128600-48132200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:48128600-48132200	Enhancers	Pancreas	Pancrea
33	chr12:48128800-48130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:48128800-48131000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr12:48128800-48132200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:48128800-48132400	Enhancers	Duodenum Mucosa	Duodenum
37	chr12:48128800-48132600	Enhancers	NHDF-Ad	bronchial
38	chr12:48129000-48130800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:48129000-48130800	Enhancers	Psoas Muscle	Psoas
40	chr12:48129000-48131600	Enhancers	Stomach Mucosa	stomach
41	chr12:48129000-48131800	Enhancers	Gastric	stomach
42	chr12:48129000-48132200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:48129000-48147000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:48129200-48130800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:48129200-48134000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:48129200-48134600	Weak transcription	Fetal Brain Female	brain
47	chr12:48129200-48137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:48129400-48130800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:48129400-48130800	Enhancers	NHLF	lung
50	chr12:48129400-48131600	Enhancers	HSMM	muscle

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