Variant report

Variant	rs56021098
Chromosome Location	chr4:3126402-3126403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3119274..3121852-chr4:3125858..3127646,2	K562	blood:
2	chr4:3112475..3121644-chr4:3122211..3126506,10	MCF-7	breast:
3	chr4:3119274..3122610-chr4:3124266..3127646,4	K562	blood:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10002065	0.81[AFR][1000 genomes]
rs10016755	0.92[AFR][1000 genomes]
rs16843857	0.95[AFR][1000 genomes]
rs16843866	0.95[AFR][1000 genomes]
rs16843869	0.82[AFR][1000 genomes]
rs16843871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843939	1.00[AMR][1000 genomes]
rs16843945	0.83[AMR][1000 genomes]
rs28580164	0.85[AFR][1000 genomes]
rs28583552	0.98[AFR][1000 genomes]
rs28634516	0.95[AFR][1000 genomes]
rs28652828	0.95[AFR][1000 genomes]
rs28660254	0.92[AFR][1000 genomes]
rs3025838	1.00[AMR][1000 genomes]
rs3025852	1.00[AMR][1000 genomes]
rs3025853	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134819	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56148664	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57792935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57875258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6830019	0.90[AFR][1000 genomes]
rs6836289	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792195	0.83[AMR][1000 genomes]
rs7442144	0.83[AMR][1000 genomes]
rs7667172	1.00[AMR][1000 genomes]
rs7693317	0.86[AFR][1000 genomes]
rs7698150	1.00[AMR][1000 genomes]
rs9996075	0.93[AFR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:3106400-3145000	Strong transcription	Dnd41	blood
8	chr4:3108600-3136600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
12	chr4:3109400-3130400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
14	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:3116000-3136200	Strong transcription	Liver	Liver
19	chr4:3117800-3129000	Weak transcription	Psoas Muscle	Psoas
20	chr4:3118200-3128600	Weak transcription	Small Intestine	intestine
21	chr4:3118400-3133600	Weak transcription	Hela-S3	cervix
22	chr4:3118600-3128400	Weak transcription	Fetal Brain Male	brain
23	chr4:3118600-3128800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:3118800-3132200	Weak transcription	K562	blood
25	chr4:3119000-3133000	Weak transcription	HMEC	breast
26	chr4:3119800-3128600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:3120400-3128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:3120400-3128600	Weak transcription	Spleen	Spleen
29	chr4:3121400-3127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:3122000-3130600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:3123200-3128400	Weak transcription	A549	lung
32	chr4:3124000-3128600	Weak transcription	Right Ventricle	heart
33	chr4:3124000-3135400	Weak transcription	Stomach Mucosa	stomach
34	chr4:3124200-3126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:3124200-3127200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:3124200-3127200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:3124200-3127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:3124200-3127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:3124200-3127200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:3124200-3127200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:3124200-3127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:3124200-3127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:3124200-3127200	Weak transcription	Aorta	Aorta
44	chr4:3124200-3127200	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:3124200-3127200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:3124200-3127200	Weak transcription	Colonic Mucosa	Colon
47	chr4:3124200-3127200	Weak transcription	Esophagus	oesophagus
48	chr4:3124200-3127200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:3124200-3127200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:3124200-3127200	Weak transcription	Fetal Thymus	thymus

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