Variant report

Variant	rs4257479
Chromosome Location	chr22:32908291-32908292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32906321-32912852..22:33339333-33353583	Hela-S3	cervix:
2	22:32906321-32912852..22:33452523-33459358	Hela-S3	cervix:
3	22:32264718-32278135..22:32906321-32912852	GM12878	blood:
4	22:32053085-32061138..22:32906321-32912852	Hela-S3	cervix:
5	22:32906321-32912852..22:33262063-33266567	K562	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1056484	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs130444	0.82[JPT][hapmap]
rs135121	0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1894450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2097312	0.82[JPT][hapmap]
rs5998523	0.82[LWK][hapmap];0.86[YRI][hapmap]
rs710175	0.89[YRI][hapmap]
rs738980	0.82[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs9621475	0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4257479	RFPL3	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32889800-32908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:32892200-32909400	Weak transcription	Aorta	Aorta
3	chr22:32894400-32913200	Weak transcription	Fetal Brain Female	brain
4	chr22:32894800-32912000	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32894800-32914200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:32895200-32909200	Weak transcription	Spleen	Spleen
7	chr22:32895200-32909600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:32895200-32910000	Weak transcription	HSMMtube	muscle
9	chr22:32895200-32913600	Weak transcription	Brain Germinal Matrix	brain
10	chr22:32895200-32918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:32895400-32914000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr22:32895800-32913200	Weak transcription	Placenta	Placenta
13	chr22:32896000-32913200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:32896400-32909600	Weak transcription	Lung	lung
15	chr22:32897200-32914200	Weak transcription	Primary T cells from cord blood	blood
16	chr22:32898600-32909800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:32898600-32913800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:32898800-32909200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:32898800-32909600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:32900000-32909400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:32904000-32924400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:32905000-32909400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:32905000-32909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:32905400-32918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:32906600-32910600	Enhancers	HepG2	liver
28	chr22:32906800-32908800	Strong transcription	Fetal Muscle Leg	muscle
29	chr22:32906800-32909000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:32906800-32913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:32907000-32908600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:32907000-32908800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:32907400-32909600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:32907600-32908600	Enhancers	Liver	Liver
35	chr22:32907600-32909400	Weak transcription	Brain Angular Gyrus	brain
36	chr22:32907600-32910800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:32907600-32912800	Weak transcription	Brain Anterior Caudate	brain
38	chr22:32907600-32913600	Weak transcription	Adipose Nuclei	Adipose
39	chr22:32907800-32912800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:32907800-32913200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:32907800-32913800	Weak transcription	Fetal Stomach	stomach
42	chr22:32908000-32912800	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:32908000-32913000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:32908000-32913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr22:32908000-32916600	Weak transcription	Brain Substantia Nigra	brain
46	chr22:32908200-32909200	Weak transcription	Brain Inferior Temporal Lobe	brain

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