Variant report

Variant	rs2291831
Chromosome Location	chr1:214531239-214531240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214531223-214531273	K562	blood:	n/a
2	chr1:214531223-214531273	U87	brain:	n/a
3	chr1:214531223-214531273	AG10803	skin:	n/a
4	chr1:214531223-214531273	IMR90	lung:	fetal
5	chr1:214531223-214531273	SK-N-SH_RA	brain:	n/a
6	chr1:214531223-214531273	NHBE	bronchial:	n/a
7	chr1:214531223-214531273	HCF	heart:	n/a
8	chr1:214531223-214531273	HEK293	kidney:	embryo
9	chr1:214531223-214531273	AG09319	gingival:	n/a
10	chr1:214531223-214531273	HEEpiC	esophagus:	n/a
11	chr1:214531223-214531273	HAEpiC	amniotic membrane:	n/a
12	chr1:214531223-214531273	PFSK-1	brain:	n/a
13	chr1:214531223-214531273	Hepatocyte	liver:	n/a
14	chr1:214531223-214531273	GM19239	blood:	n/a
15	chr1:214531223-214531273	MCF-7	breast:	n/a
16	chr1:214531223-214531273	BJ	skin:	n/a
17	chr1:214531223-214531273	HCPEpiC	choroid plexus:	n/a
18	chr1:214531223-214531273	HCT-116	colon:	n/a
19	chr1:214531223-214531273	GM12892	blood:	n/a
20	chr1:214531223-214531273	HRPEpiC	eye:	n/a
21	chr1:214531223-214531273	PANC-1	pancreas:	n/a
22	chr1:214531223-214531273	PrEC	prostate:	n/a
23	chr1:214531223-214531273	A549	lung:	n/a
24	chr1:214531223-214531273	BE2_C	brain:	n/a
25	chr1:214531223-214531273	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:214531223-214531273	NHDF-neo	bronchial:	n/a
27	chr1:214531223-214531273	HL-60	blood:	n/a
28	chr1:214531223-214531273	T-47D	breast:	n/a
29	chr1:214531223-214531273	NT2-D1	testis:	n/a
30	chr1:214531223-214531273	GM12878	blood:	n/a
31	chr1:214531223-214531273	SK-N-MC	brain:	n/a
32	chr1:214531223-214531273	NB4	blood:	n/a
33	chr1:214531223-214531273	ProgFib	skin:	n/a
34	chr1:214531223-214531273	AoSMC	blood vessel:	n/a
35	chr1:214531223-214531273	AG04450	lung:	fetal
36	chr1:214531223-214531273	HUVEC	blood vessel:	n/a
37	chr1:214531223-214531273	SK-N-SH	brain:	n/a
38	chr1:214531223-214531273	MCF10A-Er-Src	breast:	n/a
39	chr1:214531223-214531273	AG04449	skin:	fetal
40	chr1:214531223-214531273	RPTEC	kidney:	n/a
41	chr1:214531223-214531273	HRCEpiC	kidney:	n/a
42	chr1:214531223-214531273	CMK	blood:	n/a
43	chr1:214531223-214531273	HCM	heart:	n/a
44	chr1:214531223-214531273	SKMC	muscle:	n/a
45	chr1:214531223-214531273	HNPCEpiC	eye:	n/a
46	chr1:214531223-214531273	Hela-S3	cervix:	n/a
47	chr1:214531223-214531273	LNCaP	prostate:	n/a
48	chr1:214531223-214531273	Jurkat	blood:	n/a
49	chr1:214531223-214531273	H1-hESC	embryonic stem cell:	embryo
50	chr1:214531223-214531273	GM12891	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000228470	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12086431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12729692	0.82[ASN][1000 genomes]
rs12748350	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12748605	1.00[JPT][hapmap]
rs12750419	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12753105	0.91[JPT][hapmap]
rs17786937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2133175	0.92[GIH][hapmap]
rs2780	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35031581	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35090781	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35723575	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56356777	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6668557	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6676318	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs6703995	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7531372	0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2291831	FLVCR1	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214493000-214534600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:214503200-214537800	Weak transcription	Gastric	stomach
3	chr1:214504600-214533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:214508400-214535000	Weak transcription	Esophagus	oesophagus
5	chr1:214512000-214537000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:214513600-214552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:214514000-214537800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:214515400-214542600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:214518400-214537800	Weak transcription	Fetal Brain Male	brain
10	chr1:214519000-214533800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:214519000-214557800	Weak transcription	Dnd41	blood
12	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:214521200-214537600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:214522800-214552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:214523400-214540800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:214524400-214535400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:214524800-214531600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:214524800-214532200	Strong transcription	HUVEC	blood vessel
20	chr1:214524800-214534800	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr1:214524800-214535200	Strong transcription	NH-A	brain
22	chr1:214524800-214535400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:214524800-214537800	Strong transcription	NHEK	skin
24	chr1:214524800-214539200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:214525000-214534800	Strong transcription	HSMM	muscle
26	chr1:214525000-214535600	Strong transcription	NHDF-Ad	bronchial
27	chr1:214525000-214537000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:214525600-214540000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:214525800-214532200	Strong transcription	HMEC	breast
30	chr1:214526000-214534000	Weak transcription	Right Ventricle	heart
31	chr1:214526000-214538600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:214526000-214544600	Weak transcription	Spleen	Spleen
33	chr1:214526400-214537200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:214526400-214542400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:214526600-214531600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:214526600-214535000	Weak transcription	Fetal Heart	heart
37	chr1:214526800-214531600	Strong transcription	NHLF	lung
38	chr1:214526800-214535400	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:214527000-214535000	Strong transcription	Osteobl	bone
40	chr1:214527400-214540600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:214527800-214542400	Weak transcription	HepG2	liver
42	chr1:214528400-214535600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:214528600-214531400	Strong transcription	Fetal Lung	lung
44	chr1:214528600-214531800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:214528600-214539800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:214528600-214552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:214528600-214555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:214528800-214531600	Strong transcription	Placenta	Placenta
49	chr1:214528800-214533000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:214528800-214534600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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