Variant report

Variant	rs28444363
Chromosome Location	chr4:7850690-7850691
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7847228..7849126-chr4:7849365..7851826,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28373141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58253022	1.00[AMR][1000 genomes]
rs62636597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6814511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6814649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848487	1.00[AMR][1000 genomes]
rs6848677	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794756	1.00[AMR][1000 genomes]
rs7664180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665218	1.00[AFR][1000 genomes];1.00[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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3413975	chr4:7850665-7850867	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825600-7852200	Weak transcription	Gastric	stomach
3	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
12	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
13	chr4:7836600-7855200	Weak transcription	Fetal Kidney	kidney
14	chr4:7840600-7853400	Weak transcription	Pancreas	Pancrea
15	chr4:7843400-7852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:7843600-7851200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:7845000-7852000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:7845000-7856400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:7845400-7852000	Weak transcription	Fetal Brain Female	brain
24	chr4:7846000-7852200	Weak transcription	Colonic Mucosa	Colon
25	chr4:7846200-7851200	Weak transcription	Fetal Lung	lung
26	chr4:7846200-7853800	Weak transcription	Stomach Mucosa	stomach
27	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine
28	chr4:7846400-7850800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:7846400-7851000	Weak transcription	Ovary	ovary
30	chr4:7846400-7852000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:7846400-7852200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:7846400-7852200	Weak transcription	Placenta	Placenta
33	chr4:7846400-7852200	Weak transcription	Lung	lung
34	chr4:7846400-7853400	Weak transcription	Right Atrium	heart
35	chr4:7846400-7857200	Weak transcription	Left Ventricle	heart
36	chr4:7846600-7850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:7846600-7852000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:7846600-7852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:7846600-7853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:7846600-7854200	Weak transcription	Brain Substantia Nigra	brain
41	chr4:7846800-7850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:7846800-7850800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:7846800-7851400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:7846800-7851600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:7846800-7852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:7846800-7852200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:7846800-7853200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:7846800-7853200	Weak transcription	HepG2	liver
49	chr4:7846800-7858400	Weak transcription	Fetal Heart	heart
50	chr4:7847000-7851800	Weak transcription	Hela-S3	cervix

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