Variant report

Variant	rs4808177
Chromosome Location	chr19:19138996-19138997
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19131657..19140875-chr19:19141068..19145619,15	K562	blood:
2	chr19:19135285..19139143-chr19:19142003..19145350,6	MCF-7	breast:
3	chr19:19134502..19140340-chr19:19141802..19146911,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10403272	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10410399	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11085249	0.89[EUR][1000 genomes]
rs12978990	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013585	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2269807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761083	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808176	0.82[AMR][1000 genomes]
rs4808182	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808895	0.89[EUR][1000 genomes]
rs4808917	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511019	0.81[EUR][1000 genomes]
rs7252615	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs757222	0.82[EUR][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4808177	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19101200-19140200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:19101400-19142000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr19:19106800-19143000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:19107200-19142600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:19107600-19142600	Strong transcription	Fetal Stomach	stomach
6	chr19:19108000-19142000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:19108000-19142800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:19108200-19142600	Weak transcription	Right Atrium	heart
9	chr19:19108600-19142200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:19108600-19142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:19109000-19141800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:19109400-19142400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:19110600-19142400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:19126400-19143400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:19126800-19142600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:19128000-19142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:19128000-19142800	Strong transcription	Fetal Intestine Small	intestine
18	chr19:19128000-19142800	Weak transcription	Stomach Mucosa	stomach
19	chr19:19130200-19141800	Weak transcription	Fetal Heart	heart
20	chr19:19131200-19142000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:19131200-19142800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:19131400-19139800	Strong transcription	K562	blood
23	chr19:19131400-19140200	Strong transcription	Adipose Nuclei	Adipose
24	chr19:19131400-19142400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:19132000-19140800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr19:19132000-19142000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:19132200-19141200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr19:19132200-19141800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:19132200-19142000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:19132400-19139600	Strong transcription	Colon Smooth Muscle	Colon
31	chr19:19132400-19142400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:19132600-19141800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr19:19132600-19141800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr19:19132800-19141600	Strong transcription	Spleen	Spleen
35	chr19:19132800-19142000	Strong transcription	Fetal Intestine Large	intestine
36	chr19:19133000-19139600	Strong transcription	Gastric	stomach
37	chr19:19133000-19140000	Strong transcription	Left Ventricle	heart
38	chr19:19133000-19141600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:19133000-19141600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr19:19133000-19141800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr19:19133000-19142600	Strong transcription	Lung	lung
42	chr19:19133200-19139400	Strong transcription	Brain Hippocampus Middle	brain
43	chr19:19133200-19139600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19133200-19139600	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr19:19133200-19139800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:19133200-19139800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr19:19133200-19139800	Strong transcription	HSMMtube	muscle
48	chr19:19133200-19139800	Strong transcription	NHDF-Ad	bronchial
49	chr19:19133200-19141600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr19:19133200-19141600	Strong transcription	Primary hematopoietic stem cells	blood

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