Variant report

Variant	rs3813230
Chromosome Location	chr2:74093652-74093653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74084294..74085854-chr2:74090928..74093869,2	K562	blood:
2	chr2:74087392..74089245-chr2:74092521..74094100,2	MCF-7	breast:
3	chr2:74086563..74089474-chr2:74092374..74096143,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUSP11-4	chr2:74093593-74093726	NONHSAT071640

Variant related genes	Relation type
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10167667	0.85[ASN][1000 genomes]
rs10202343	0.85[ASN][1000 genomes]
rs1055888	0.85[ASN][1000 genomes]
rs11126419	0.84[ASW][hapmap];0.87[CHD][hapmap];0.92[LWK][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11897051	0.85[ASN][1000 genomes]
rs13012471	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs13414927	0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs13418993	0.85[ASN][1000 genomes]
rs13419314	0.85[ASN][1000 genomes]
rs13432600	0.85[ASN][1000 genomes]
rs17009396	0.81[CHD][hapmap]
rs17009404	0.82[JPT][hapmap]
rs3738845	0.82[ASN][1000 genomes]
rs3738846	0.82[MEX][hapmap]
rs3813231	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852983	0.82[MEX][hapmap]
rs60987687	0.85[ASN][1000 genomes]
rs72917405	0.85[ASN][1000 genomes]
rs72917409	0.82[ASN][1000 genomes]
rs72917413	0.82[ASN][1000 genomes]
rs72917415	0.85[ASN][1000 genomes]
rs72917417	0.85[ASN][1000 genomes]
rs72917422	0.85[ASN][1000 genomes]
rs7579755	0.85[ASN][1000 genomes]
rs7609273	0.81[CHD][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3813230	PCGF1	cis	parietal	SCAN
rs3813230	STAMBP	cis	uninvolved skin	skin_eQTL
rs3813230	ALMS1	cis	parietal	SCAN
rs3813230	ALMS1	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74065000-74094400	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:74065600-74094400	Strong transcription	Dnd41	blood
3	chr2:74066400-74094400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr2:74066600-74094200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74066600-74094400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:74066800-74094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:74067000-74094200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:74068600-74094200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:74068800-74094400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:74068800-74094400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:74070600-74094200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:74070800-74094200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:74070800-74094200	Strong transcription	Liver	Liver
14	chr2:74070800-74094400	Strong transcription	Placenta	Placenta
15	chr2:74070800-74094400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:74071000-74094400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:74071200-74093800	Strong transcription	HepG2	liver
18	chr2:74071200-74094200	Strong transcription	Adipose Nuclei	Adipose
19	chr2:74071200-74094200	Strong transcription	Fetal Brain Female	brain
20	chr2:74071200-74094200	Strong transcription	Fetal Thymus	thymus
21	chr2:74071200-74094400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:74071400-74094000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr2:74071400-74094200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:74071600-74094200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:74071600-74094200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:74071600-74094200	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:74071600-74094200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:74071600-74094200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:74071600-74094600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:74071800-74094200	Strong transcription	Thymus	Thymus
31	chr2:74071800-74094400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:74072200-74094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:74072200-74094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:74072200-74094400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr2:74076000-74094200	Strong transcription	Primary B cells from cord blood	blood
36	chr2:74078200-74101000	Weak transcription	Small Intestine	intestine
37	chr2:74078600-74094400	Strong transcription	Fetal Intestine Large	intestine
38	chr2:74079600-74094200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:74079800-74094200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:74079800-74094400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:74080800-74094200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:74084000-74094200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:74084000-74094600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:74084200-74094400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:74085600-74094400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:74085800-74094200	Strong transcription	Brain Anterior Caudate	brain
47	chr2:74086000-74094400	Strong transcription	Brain Hippocampus Middle	brain
48	chr2:74086200-74094200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:74086200-74094200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr2:74086400-74094000	Strong transcription	Left Ventricle	heart

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