Variant report

Variant	rs28820097
Chromosome Location	chr4:3097495-3097496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3097049..3099921-chr4:3101807..3103894,2	K562	blood:
2	chr4:3093596..3096340-chr4:3097378..3100304,2	K562	blood:
3	chr4:3074783..3077472-chr4:3096704..3098781,2	K562	blood:
4	chr4:3074783..3077752-chr4:3096120..3098781,2	K562	blood:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction
ENSG00000251075	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10015979	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11731237	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs762855	0.86[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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3078000-3097600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:3078000-3101000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:3078000-3103000	Weak transcription	Colonic Mucosa	Colon
4	chr4:3078200-3101000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:3078200-3109800	Weak transcription	Stomach Mucosa	stomach
6	chr4:3078400-3102200	Weak transcription	Hela-S3	cervix
7	chr4:3078400-3107000	Weak transcription	HMEC	breast
8	chr4:3078600-3101000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:3078600-3113800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:3078800-3108800	Weak transcription	Psoas Muscle	Psoas
11	chr4:3079800-3107200	Weak transcription	Fetal Brain Male	brain
12	chr4:3080000-3117800	Weak transcription	Small Intestine	intestine
13	chr4:3081600-3101000	Weak transcription	Spleen	Spleen
14	chr4:3081800-3101600	Weak transcription	Ovary	ovary
15	chr4:3081800-3101600	Weak transcription	Right Ventricle	heart
16	chr4:3084400-3109000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:3084600-3102000	Weak transcription	Gastric	stomach
18	chr4:3084600-3109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:3085600-3107000	Weak transcription	K562	blood
20	chr4:3086800-3098200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:3087200-3101000	Weak transcription	Pancreas	Pancrea
22	chr4:3087400-3101800	Weak transcription	NHEK	skin
23	chr4:3087800-3108800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr4:3088400-3098800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:3089400-3097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:3089400-3101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:3089600-3100800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:3090000-3100800	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:3090600-3101200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:3090600-3101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:3090800-3097600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:3091000-3099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:3091000-3100800	Weak transcription	HUVEC	blood vessel
35	chr4:3091000-3101000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:3091000-3101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:3092400-3097600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:3092400-3101800	Weak transcription	NH-A	brain
39	chr4:3092400-3108200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:3092600-3098800	Strong transcription	Fetal Stomach	stomach
41	chr4:3093000-3101600	Weak transcription	NHLF	lung
42	chr4:3093400-3108800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:3093600-3109200	Weak transcription	Fetal Heart	heart
44	chr4:3094000-3098800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:3094200-3097600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:3094200-3098800	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:3094400-3123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:3094600-3098000	Weak transcription	Liver	Liver
49	chr4:3094600-3098600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:3094600-3099000	Strong transcription	Fetal Muscle Trunk	muscle

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