Variant report

Variant	rs73333466
Chromosome Location	chr5:126135747-126135748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126135601..126137322-chr5:126144015..126147273,3	K562	blood:
2	chr5:126125295..126130824-chr5:126132329..126136999,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56893573	1.00[AMR][1000 genomes]
rs57813213	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087318	1.00[AMR][1000 genomes]
rs61089732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61548555	1.00[AMR][1000 genomes]
rs61661009	1.00[AMR][1000 genomes]
rs73333414	1.00[AMR][1000 genomes]
rs73333419	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333420	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333427	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333434	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333442	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333456	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333497	1.00[AMR][1000 genomes]
rs7731899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7731916	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv533306	chr5:126122436-126137162	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126137400	Weak transcription	HSMM	muscle
6	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
8	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
9	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
12	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
17	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
18	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:126124800-126137000	Weak transcription	NHLF	lung
24	chr5:126125400-126135800	Weak transcription	K562	blood
25	chr5:126125400-126136000	Weak transcription	NHDF-Ad	bronchial
26	chr5:126125400-126137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:126129000-126137000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:126129200-126137400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:126129200-126140000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:126130000-126136200	Strong transcription	Fetal Thymus	thymus
38	chr5:126130400-126137000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:126130400-126137200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:126130400-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:126130400-126139800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:126130400-126142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:126130600-126137400	Weak transcription	Fetal Lung	lung
45	chr5:126131200-126140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:126131600-126141600	Weak transcription	Fetal Intestine Small	intestine
47	chr5:126132000-126141200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:126132200-126141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:126132200-126161200	Weak transcription	Gastric	stomach
50	chr5:126132400-126140400	Weak transcription	HepG2	liver

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