Variant report

Variant	rs73333449
Chromosome Location	chr5:126121325-126121326
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126121325..126123278-chr5:126123721..126126888,3	K562	blood:
2	chr5:126111234..126115600-chr5:126116361..126125062,16	K562	blood:
3	chr5:126112071..126114264-chr5:126119219..126121741,2	MCF-7	breast:
4	chr5:126022885..126024980-chr5:126119289..126121396,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56893573	1.00[AMR][1000 genomes]
rs57813213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087318	1.00[AMR][1000 genomes]
rs61089732	0.81[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333420	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333425	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333427	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333429	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333434	1.00[AMR][1000 genomes]
rs73333442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333456	1.00[AMR][1000 genomes]
rs73333460	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333464	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333466	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333497	1.00[AMR][1000 genomes]
rs7731899	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7731916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732208	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:72 , 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	chr5:126115200-126122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:126115200-126123600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:126115200-126123600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:126115800-126137400	Weak transcription	HSMM	muscle
10	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:126116000-126123800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
13	chr5:126116400-126122200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:126116400-126122200	Weak transcription	Fetal Kidney	kidney
15	chr5:126116400-126123600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:126116400-126123800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:126116400-126124800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:126116400-126125000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:126116400-126125200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:126116400-126128600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:126116400-126128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:126116400-126128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:126116400-126128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:126116400-126130000	Weak transcription	Fetal Lung	lung
25	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
26	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
29	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:126116600-126122000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:126116600-126122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:126116600-126122200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:126116600-126131400	Weak transcription	Fetal Intestine Small	intestine
35	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:126116800-126121400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:126116800-126122200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:126116800-126122200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:126116800-126123800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:126116800-126128000	Weak transcription	HUVEC	blood vessel
42	chr5:126116800-126128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:126117000-126121600	Weak transcription	Fetal Brain Male	brain
44	chr5:126117000-126135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
46	chr5:126117800-126122000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:126117800-126128400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:126117800-126128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
50	chr5:126118000-126122200	Weak transcription	HepG2	liver

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