Variant report

Variant	rs2048546
Chromosome Location	chr4:149342487-149342488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10434100	0.93[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs10434128	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs10519963	0.93[CEU][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs11931777	0.85[EUR][1000 genomes]
rs12506058	0.85[EUR][1000 genomes]
rs12510074	0.85[EUR][1000 genomes]
rs1490453	0.81[CEU][hapmap]
rs16998733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17024681	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17484783	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs17484839	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17484873	1.00[CEU][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs17485033	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17582031	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[EUR][1000 genomes]
rs2063553	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2063554	0.85[EUR][1000 genomes]
rs2063555	0.93[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs2063556	0.85[EUR][1000 genomes]
rs2137330	0.93[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs56721167	0.94[EUR][1000 genomes]
rs59941204	0.94[EUR][1000 genomes]
rs61569758	0.89[EUR][1000 genomes]
rs61756947	0.94[EUR][1000 genomes]
rs61758341	0.95[EUR][1000 genomes]
rs61758351	0.95[EUR][1000 genomes]
rs61763850	0.96[EUR][1000 genomes]
rs61764769	0.96[EUR][1000 genomes]
rs66584597	0.95[EUR][1000 genomes]
rs6834935	1.00[CEU][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs6840422	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[EUR][1000 genomes]
rs72729936	0.85[EUR][1000 genomes]
rs72729990	0.94[EUR][1000 genomes]
rs72729992	0.94[EUR][1000 genomes]
rs72732304	0.95[EUR][1000 genomes]
rs72732308	0.95[EUR][1000 genomes]
rs72732311	0.95[EUR][1000 genomes]
rs72953910	0.94[EUR][1000 genomes]
rs7682972	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7686433	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs7688969	0.80[CEU][hapmap]
rs7698307	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs879206	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs995567	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2048546	FCRL1	trans	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149297800-149350000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:149318800-149346600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:149320400-149351800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:149327000-149351000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:149327400-149346600	Weak transcription	Small Intestine	intestine
6	chr4:149327800-149346400	Weak transcription	Gastric	stomach
7	chr4:149327800-149346400	Weak transcription	Pancreas	Pancrea
8	chr4:149329600-149343800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:149335400-149346400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:149335400-149349200	Weak transcription	Fetal Heart	heart
11	chr4:149337600-149343800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:149338600-149354800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:149339400-149344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:149340200-149356800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:149340600-149343200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:149340800-149343600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:149340800-149343600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:149341200-149343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:149341400-149343600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:149342000-149346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:149342200-149343200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:149342200-149346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:149342200-149346400	Weak transcription	Right Atrium	heart
24	chr4:149342200-149346400	Weak transcription	Stomach Mucosa	stomach
25	chr4:149342200-149346600	Weak transcription	Left Ventricle	heart
26	chr4:149342200-149346600	Weak transcription	Psoas Muscle	Psoas

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