Variant report

Variant	rs71323373
Chromosome Location	chr3:47976146-47976147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13091111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35057216	1.00[AMR][1000 genomes]
rs35286611	1.00[AMR][1000 genomes]
rs71323372	1.00[AMR][1000 genomes]
rs71323386	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47952600-47979200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:47957800-47991000	Weak transcription	Fetal Kidney	kidney
4	chr3:47958400-47976800	Weak transcription	Small Intestine	intestine
5	chr3:47958600-47976400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:47958600-47980400	Weak transcription	Pancreas	Pancrea
7	chr3:47958600-47989600	Weak transcription	Brain Angular Gyrus	brain
8	chr3:47958800-47976800	Weak transcription	Fetal Heart	heart
9	chr3:47959000-47981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:47962800-47988600	Weak transcription	Esophagus	oesophagus
11	chr3:47963000-47991200	Weak transcription	Gastric	stomach
12	chr3:47966200-47991200	Weak transcription	A549	lung
13	chr3:47967000-47981000	Weak transcription	HUVEC	blood vessel
14	chr3:47968400-47981600	Weak transcription	Brain Anterior Caudate	brain
15	chr3:47968600-48012600	Weak transcription	Primary B cells from cord blood	blood
16	chr3:47968800-47980000	Weak transcription	Right Ventricle	heart
17	chr3:47968800-48003000	Weak transcription	Primary T cells from cord blood	blood
18	chr3:47969000-48003000	Weak transcription	Thymus	Thymus
19	chr3:47969200-48002600	Weak transcription	Aorta	Aorta
20	chr3:47969200-48003200	Weak transcription	Lung	lung
21	chr3:47969400-47979800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:47969600-47980400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:47969600-47982200	Weak transcription	GM12878-XiMat	blood
24	chr3:47969800-47977200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:47969800-47977400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:47969800-47978600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:47969800-47979800	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:47969800-47982000	Weak transcription	Adipose Nuclei	Adipose
29	chr3:47969800-47983400	Weak transcription	Liver	Liver
30	chr3:47969800-47991000	Weak transcription	NHDF-Ad	bronchial
31	chr3:47969800-47991200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:47969800-47991200	Weak transcription	Fetal Intestine Small	intestine
33	chr3:47969800-47991600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:47969800-47997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:47969800-48000600	Weak transcription	Fetal Stomach	stomach
36	chr3:47969800-48002600	Weak transcription	HMEC	breast
37	chr3:47969800-48003000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:47969800-48003000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:47969800-48003000	Weak transcription	Hela-S3	cervix
40	chr3:47969800-48003200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:47969800-48003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:47969800-48003200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:47969800-48004000	Weak transcription	NHLF	lung
44	chr3:47970000-47981600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:47970000-47984800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:47970000-47985200	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:47970000-48003000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:47970200-47980000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:47970200-47981600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:47970200-47984600	Weak transcription	K562	blood

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