Variant report

Variant	rs2097312
Chromosome Location	chr22:32912277-32912278
allele	C/T
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
ENSG00000185666	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1056484	0.91[CEU][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12167840	0.80[JPT][hapmap]
rs130444	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130445	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130446	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs135121	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894450	0.91[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs2097313	0.83[EUR][1000 genomes]
rs2097314	0.95[AFR][1000 genomes]
rs2413123	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2413127	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4257479	0.82[JPT][hapmap]
rs5754125	0.98[ASN][1000 genomes]
rs73170402	0.85[ASN][1000 genomes]
rs738980	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9619267	0.88[JPT][hapmap]
rs9621475	0.81[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	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32894400-32913200	Weak transcription	Fetal Brain Female	brain
2	chr22:32894800-32914200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:32895200-32913600	Weak transcription	Brain Germinal Matrix	brain
4	chr22:32895200-32918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:32895400-32914000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr22:32895800-32913200	Weak transcription	Placenta	Placenta
7	chr22:32896000-32913200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:32897200-32914200	Weak transcription	Primary T cells from cord blood	blood
9	chr22:32898600-32913800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:32904000-32924400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:32905400-32918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:32906800-32913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:32907600-32912800	Weak transcription	Brain Anterior Caudate	brain
16	chr22:32907600-32913600	Weak transcription	Adipose Nuclei	Adipose
17	chr22:32907800-32912800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:32907800-32913200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:32907800-32913800	Weak transcription	Fetal Stomach	stomach
20	chr22:32908000-32912800	Weak transcription	Brain Hippocampus Middle	brain
21	chr22:32908000-32913000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:32908000-32913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:32908000-32916600	Weak transcription	Brain Substantia Nigra	brain
24	chr22:32908800-32914400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:32910200-32912600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:32910200-32925600	Weak transcription	Spleen	Spleen
27	chr22:32910400-32912800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:32910400-32912800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:32910600-32912800	Weak transcription	Brain Angular Gyrus	brain
30	chr22:32910600-32915000	Weak transcription	HepG2	liver
31	chr22:32910800-32913000	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:32911600-32912600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:32911600-32913000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:32911800-32913000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:32912000-32914600	Weak transcription	NHDF-Ad	bronchial

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