Variant report

Variant	rs73531378
Chromosome Location	chr6:119399098-119399099
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:
2	chr6:119398174..119401168-chr6:119668507..119671059,2	K562	blood:
3	chr6:119213805..119216904-chr6:119398441..119401842,5	K562	blood:
4	chr6:119253156..119256806-chr6:119394976..119399977,7	K562	blood:
5	chr6:119357800..119360745-chr6:119397203..119399369,2	K562	blood:

Variant related genes	Relation type
ENSG00000253194	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000111885	Chromatin interaction
ENSG00000111877	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1334927	1.00[EUR][1000 genomes]
rs4335018	0.90[AFR][1000 genomes]
rs58340913	1.00[EUR][1000 genomes]
rs59123354	0.95[AFR][1000 genomes]
rs73531393	0.93[EUR][1000 genomes]
rs73531398	0.93[EUR][1000 genomes]
rs73533310	0.86[AFR][1000 genomes]
rs73533328	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9489586	1.00[EUR][1000 genomes]
rs9489587	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489589	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9885701	1.00[EUR][1000 genomes]
rs9885891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9885892	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119397400-119399200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:119397400-119399200	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr6:119397400-119399200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr6:119397400-119399400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr6:119397400-119400800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:119397800-119399200	Flanking Active TSS	K562	blood
7	chr6:119398000-119399200	Flanking Active TSS	Fetal Brain Female	brain
8	chr6:119398000-119400600	Active TSS	Colon Smooth Muscle	Colon
9	chr6:119398000-119400800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:119398000-119401000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:119398200-119399200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:119398200-119399200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:119398200-119399200	Flanking Active TSS	Fetal Brain Male	brain
14	chr6:119398200-119399400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:119398200-119400200	Active TSS	Placenta	Placenta
16	chr6:119398200-119400400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:119398200-119400600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:119398200-119400600	Active TSS	Rectal Smooth Muscle	rectum
19	chr6:119398200-119400800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:119398200-119400800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:119398400-119399200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr6:119398400-119399200	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr6:119398400-119399400	Flanking Active TSS	HepG2	liver
24	chr6:119398400-119400400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:119398400-119400600	Active TSS	Brain Hippocampus Middle	brain
26	chr6:119398400-119400600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:119398400-119400600	Active TSS	Fetal Intestine Small	intestine
28	chr6:119398400-119400800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:119398400-119401000	Active TSS	Ovary	ovary
30	chr6:119398400-119401200	Active TSS	Stomach Smooth Muscle	stomach
31	chr6:119398600-119399200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr6:119398600-119399200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:119398600-119399200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr6:119398600-119399400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:119398600-119399600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:119398600-119401000	Active TSS	Right Atrium	heart
37	chr6:119398800-119399200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr6:119398800-119399200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr6:119398800-119399200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:119398800-119399200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:119398800-119399200	Flanking Active TSS	Liver	Liver
42	chr6:119398800-119399200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr6:119398800-119399200	Bivalent Enhancer	Fetal Heart	heart
44	chr6:119398800-119399200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
45	chr6:119398800-119399200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
46	chr6:119398800-119399200	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr6:119398800-119399200	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr6:119398800-119399400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr6:119398800-119399400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr6:119398800-119399400	Enhancers	Placenta Amnion	Placenta Amnion

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