Variant report

Variant	rs73083371
Chromosome Location	chr7:27906711-27906712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:27906363-27907223	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
JAZF1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10249314	0.82[AMR][1000 genomes]
rs1029604	0.85[AMR][1000 genomes]
rs11540483	0.89[AMR][1000 genomes]
rs1468443	0.85[AMR][1000 genomes]
rs2158892	0.85[AMR][1000 genomes]
rs4719905	0.85[AMR][1000 genomes]
rs4722736	0.85[AMR][1000 genomes]
rs4722738	0.82[AMR][1000 genomes]
rs56070801	0.82[AMR][1000 genomes]
rs60426718	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6462044	0.82[AMR][1000 genomes]
rs6462045	0.85[AMR][1000 genomes]
rs6960451	0.82[AMR][1000 genomes]
rs6969516	0.82[AMR][1000 genomes]
rs6970160	0.85[AMR][1000 genomes]
rs73073375	0.89[AMR][1000 genomes]
rs73073377	0.89[AMR][1000 genomes]
rs73073379	0.89[AMR][1000 genomes]
rs73073380	0.89[AMR][1000 genomes]
rs73073387	0.89[AMR][1000 genomes]
rs73073388	0.89[AMR][1000 genomes]
rs73073393	0.89[AMR][1000 genomes]
rs73075307	0.89[AMR][1000 genomes]
rs73075310	0.89[AMR][1000 genomes]
rs73075311	0.89[AMR][1000 genomes]
rs73075322	0.89[AMR][1000 genomes]
rs73075325	0.89[AMR][1000 genomes]
rs73075329	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73075331	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73075354	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73075359	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73075361	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73075375	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73075378	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73078776	0.89[AMR][1000 genomes]
rs73078778	0.89[AMR][1000 genomes]
rs73083352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73083361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73083363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7807729	0.89[AMR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
2	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
3	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
5	chr7:27882800-27912000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:27889200-27912000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:27893200-27909000	Weak transcription	Right Ventricle	heart
8	chr7:27896000-27908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:27896200-27913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:27896600-27907200	Weak transcription	Primary T cells from cord blood	blood
11	chr7:27897200-27907400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:27897200-27909000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:27897200-27912000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:27897200-27915200	Weak transcription	Gastric	stomach
15	chr7:27898400-27907200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:27899400-27912600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:27900600-27910200	Weak transcription	Pancreas	Pancrea
18	chr7:27900600-27911400	Weak transcription	Adipose Nuclei	Adipose
19	chr7:27901000-27908000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:27901200-27913400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:27901400-27908000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:27901400-27913400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:27901400-27913800	Weak transcription	NHLF	lung
24	chr7:27901600-27912200	Strong transcription	Primary B cells from cord blood	blood
25	chr7:27901800-27909600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:27902200-27911600	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:27902600-27908600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:27903200-27911400	Weak transcription	Lung	lung
29	chr7:27903800-27910600	Weak transcription	Fetal Stomach	stomach
30	chr7:27903800-27913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:27903800-27913800	Weak transcription	HMEC	breast
32	chr7:27903800-27914000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:27904000-27913600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:27904000-27916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:27904200-27908000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:27904200-27910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:27904200-27911400	Weak transcription	Left Ventricle	heart
38	chr7:27904200-27913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:27904200-27913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:27904200-27913600	Weak transcription	Osteobl	bone
41	chr7:27905200-27913000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:27905400-27907000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:27906000-27906800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:27906000-27908200	Enhancers	Fetal Brain Male	brain
45	chr7:27906200-27908200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr7:27906200-27933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:27906400-27907600	Enhancers	Fetal Lung	lung
48	chr7:27906400-27908200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:27906400-27908200	Genic enhancers	Spleen	Spleen
50	chr7:27906400-27908400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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