Variant report

Variant	rs55816619
Chromosome Location	chr4:87959805-87959806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87953334..87957046-chr4:87958598..87961763,4	K562	blood:
2	chr4:87952663..87956832-chr4:87958320..87961763,4	K562	blood:
3	chr4:87947975..87950419-chr4:87957844..87960013,2	K562	blood:
4	chr4:87926892..87929968-chr4:87957011..87960890,5	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10516788	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1471251	0.90[ASN][1000 genomes]
rs17604480	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17701999	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4693801	0.82[AMR][1000 genomes]
rs55787557	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56023922	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56050898	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56201818	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56390363	0.81[ASN][1000 genomes]
rs56395939	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56406125	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6819155	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6840258	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6854749	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72667747	0.83[AFR][1000 genomes]
rs72667750	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72667751	0.81[ASN][1000 genomes]
rs72667752	0.81[ASN][1000 genomes]
rs72667753	0.81[ASN][1000 genomes]
rs72667754	0.81[ASN][1000 genomes]
rs72667757	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667759	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72667765	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs767315	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87944200-87960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
3	chr4:87949200-87961000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:87949400-87960600	Enhancers	Liver	Liver
5	chr4:87949600-87960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:87949800-87960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:87950000-87960200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:87950200-87962600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:87951800-87960400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:87952400-87960000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:87952400-87960400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:87952600-87961000	Enhancers	K562	blood
14	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:87952800-87961000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:87953000-87960800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:87953600-87960600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:87953600-87961000	Enhancers	Fetal Lung	lung
21	chr4:87953800-87961600	Enhancers	Brain Substantia Nigra	brain
22	chr4:87953800-87963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:87954200-87960000	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:87954600-87961200	Enhancers	Adipose Nuclei	Adipose
25	chr4:87954600-87961600	Enhancers	Brain Angular Gyrus	brain
26	chr4:87954600-87962200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:87954600-87963400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:87954600-87965800	Enhancers	Colon Smooth Muscle	Colon
29	chr4:87954800-87961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:87955400-87960200	Enhancers	Brain Hippocampus Middle	brain
31	chr4:87955400-87960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:87955600-87960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:87955600-87960000	Weak transcription	Colonic Mucosa	Colon
34	chr4:87955600-87962200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:87955600-87962200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:87955600-87962400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:87955600-87964800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:87956400-87960000	Weak transcription	Gastric	stomach
39	chr4:87956800-87960800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:87956800-87960800	Enhancers	Primary B cells from cord blood	blood
41	chr4:87956800-87960800	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:87956800-87961000	Enhancers	Fetal Kidney	kidney
43	chr4:87956800-87961600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:87956800-87963000	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:87957000-87960200	Enhancers	HSMMtube	muscle
46	chr4:87957000-87960400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr4:87957000-87960400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:87957000-87960800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:87957000-87962800	Enhancers	Brain Anterior Caudate	brain
50	chr4:87957200-87960000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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