Variant report

Variant	rs74017390
Chromosome Location	chr15:59486917-59486918
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	chr15:59474900..59477474-chr15:59486434..59489003,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11633136	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62004153	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033859	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788751	0.95[EUR][1000 genomes];1.00[ASN][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59464400-59496800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
3	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
4	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr15:59468800-59490800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr15:59468800-59492600	Strong transcription	Fetal Intestine Large	intestine
7	chr15:59475200-59503200	Strong transcription	Liver	Liver
8	chr15:59475800-59498200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:59476000-59488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:59476200-59490600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr15:59477000-59498000	Strong transcription	GM12878-XiMat	blood
13	chr15:59479400-59487800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:59479400-59488200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:59479600-59488400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:59480200-59492400	Weak transcription	Fetal Heart	heart
17	chr15:59480200-59499200	Weak transcription	Fetal Lung	lung
18	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:59480600-59496400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:59481000-59487800	Strong transcription	Primary B cells from cord blood	blood
22	chr15:59481000-59492000	Strong transcription	Fetal Intestine Small	intestine
23	chr15:59481400-59487600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:59481400-59496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:59481600-59488600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:59481800-59487800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:59481800-59487800	Strong transcription	Left Ventricle	heart
28	chr15:59482000-59487600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:59482000-59487800	Strong transcription	Fetal Muscle Leg	muscle
30	chr15:59482200-59487800	Strong transcription	Spleen	Spleen
31	chr15:59482200-59488000	Strong transcription	Gastric	stomach
32	chr15:59482400-59487800	Strong transcription	HepG2	liver
33	chr15:59482800-59499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:59483800-59487600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:59483800-59487800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:59484000-59487600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:59484000-59488000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:59484200-59487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:59484200-59487800	Strong transcription	Placenta	Placenta
41	chr15:59484200-59499400	Weak transcription	Fetal Kidney	kidney
42	chr15:59484400-59487800	Strong transcription	Fetal Stomach	stomach
43	chr15:59484400-59487800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr15:59484600-59487400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr15:59484600-59487600	Strong transcription	Colon Smooth Muscle	Colon
46	chr15:59484600-59487800	Strong transcription	Aorta	Aorta
47	chr15:59484600-59488000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:59484600-59488800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:59484800-59487800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:59484800-59487800	Strong transcription	Adipose Nuclei	Adipose

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