Variant report

Variant	rs71611333
Chromosome Location	chr5:8463754-8463755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:8461759..8464771-chr5:8466218..8469670,3	K562	blood:
2	chr5:8462445..8464940-chr5:8473267..8475894,2	K562	blood:
3	chr5:8457078..8459207-chr5:8461943..8464823,4	K562	blood:

Variant related genes	Relation type
ENSG00000249159	Chromatin interaction
ENSG00000247516	Chromatin interaction
ENSG00000245729	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11957345	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12187901	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167438	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13173931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177016	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16880693	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16880696	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs921186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033505	chr5:8258074-8657627	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv537634	chr5:8258074-8657627	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026496	chr5:8275119-8681693	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
4	nsv537635	chr5:8275119-8681693	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427709	chr5:8353876-8519855	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881034	chr5:8376813-8499567	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1025309	chr5:8399380-8466098	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8458400-8463800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:8458400-8464400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:8458400-8468400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:8458600-8468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:8458600-8468400	Weak transcription	Esophagus	oesophagus
6	chr5:8458600-8468400	Weak transcription	Pancreas	Pancrea
7	chr5:8458800-8463800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:8458800-8463800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:8458800-8464000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:8458800-8464000	Weak transcription	Fetal Stomach	stomach
11	chr5:8459000-8463800	Weak transcription	Primary T cells from cord blood	blood
12	chr5:8459000-8463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:8459000-8464400	Weak transcription	HSMM	muscle
14	chr5:8459000-8464600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:8459000-8465000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:8459200-8463800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:8459200-8463800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:8459200-8463800	Weak transcription	HUVEC	blood vessel
19	chr5:8459200-8464800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:8459200-8464800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:8459200-8465600	Weak transcription	Right Ventricle	heart
22	chr5:8459400-8464000	Weak transcription	Fetal Brain Female	brain
23	chr5:8459400-8464200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:8459800-8463800	Weak transcription	Fetal Lung	lung
25	chr5:8459800-8470200	Weak transcription	Aorta	Aorta
26	chr5:8460800-8463800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:8461200-8463800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:8461200-8464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:8461800-8464600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:8462000-8464000	Weak transcription	Hela-S3	cervix
31	chr5:8462200-8464000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:8462400-8463800	Weak transcription	K562	blood
33	chr5:8462400-8464000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:8462400-8464200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:8462400-8464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:8462400-8464400	Weak transcription	Liver	Liver
37	chr5:8462400-8464400	Weak transcription	Fetal Brain Male	brain
38	chr5:8462400-8464400	Weak transcription	Dnd41	blood
39	chr5:8462400-8466200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:8462800-8464400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:8462800-8465800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:8463000-8464800	Weak transcription	Brain Germinal Matrix	brain
43	chr5:8463000-8464800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:8463000-8468000	Weak transcription	Left Ventricle	heart
45	chr5:8463200-8463800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:8463400-8469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:8463600-8463800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:8463600-8463800	Enhancers	Lung	lung
49	chr5:8463600-8464000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr5:8463600-8466200	Enhancers	Stomach Mucosa	stomach

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