Variant report

Variant	rs71404856
Chromosome Location	chr14:35843816-35843817
allele	ATAACTCTCTCTCTT/GTAACTCTCTCTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12884331	1.00[ASN][1000 genomes]
rs12884889	1.00[ASN][1000 genomes]
rs12892002	1.00[ASN][1000 genomes]
rs34043514	1.00[ASN][1000 genomes]
rs34758648	1.00[ASN][1000 genomes]
rs35650337	1.00[ASN][1000 genomes]
rs35998362	1.00[ASN][1000 genomes]
rs36093300	1.00[ASN][1000 genomes]
rs57607234	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571715	1.00[ASN][1000 genomes]
rs71204284	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8007950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:35838800-35847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:35839600-35845000	Weak transcription	Spleen	Spleen
4	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:35840200-35845000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
7	chr14:35841800-35845000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:35842000-35846000	Enhancers	Placenta	Placenta
9	chr14:35842400-35845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:35842400-35845000	Weak transcription	Lung	lung
11	chr14:35843000-35846000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:35843200-35844000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:35843200-35844000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:35843200-35844000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:35843200-35844000	Enhancers	Fetal Intestine Small	intestine
16	chr14:35843200-35844000	Flanking Active TSS	A549	lung
17	chr14:35843200-35844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:35843200-35844200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:35843200-35844200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:35843200-35844200	Enhancers	Adipose Nuclei	Adipose
21	chr14:35843200-35844200	Enhancers	NHEK	skin
22	chr14:35843200-35844200	Enhancers	Osteobl	bone
23	chr14:35843200-35850000	Enhancers	Hela-S3	cervix
24	chr14:35843400-35844000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:35843400-35844000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:35843400-35844000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:35843400-35844000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:35843400-35844000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:35843400-35844000	Enhancers	Fetal Intestine Large	intestine
30	chr14:35843400-35844000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:35843400-35844000	Enhancers	HUVEC	blood vessel
32	chr14:35843400-35844200	Enhancers	K562	blood
33	chr14:35843400-35844400	Enhancers	NHDF-Ad	bronchial
34	chr14:35843400-35845000	Enhancers	HepG2	liver
35	chr14:35843400-35845200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:35843400-35845200	Weak transcription	Fetal Thymus	thymus
37	chr14:35843600-35844000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:35843600-35844000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr14:35843600-35844000	Enhancers	Primary B cells from cord blood	blood
40	chr14:35843600-35844000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:35843600-35844000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:35843600-35844000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:35843600-35844000	Enhancers	NH-A	brain
44	chr14:35843600-35844200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr14:35843600-35852400	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:35843800-35844000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:35843800-35844000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:35843800-35844000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:35843800-35844000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:35843800-35844000	Enhancers	Brain Anterior Caudate	brain

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