Variant report

Variant	rs916782
Chromosome Location	chr22:30475092-30475093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr22:30474680-30475114	GM12878	blood:	n/a	chr22:30474947-30474958
2	NFIC	chr22:30474622-30475366	GM12878	blood:	n/a	n/a
3	RELA	chr22:30474718-30475419	GM19099	blood:	n/a	chr22:30475180-30475189 chr22:30475180-30475189
4	ELK1	chr22:30474622-30475124	GM12878	blood:	n/a	chr22:30474891-30474900 chr22:30474891-30474900
5	BATF	chr22:30474853-30475201	GM12878	blood:	n/a	chr22:30475062-30475073
6	RUNX3	chr22:30474612-30475398	GM12878	blood:	n/a	n/a
7	MTA3	chr22:30474580-30475364	GM12878	blood:	n/a	n/a
8	EBF1	chr22:30474680-30475395	GM12878	blood:	n/a	chr22:30474947-30474958
9	CUX1	chr22:30474696-30475301	GM12878	blood:	n/a	n/a
10	MEF2A	chr22:30474836-30475344	GM12878	blood:	n/a	n/a
11	RELA	chr22:30474771-30475471	GM10847	blood:	n/a	chr22:30475180-30475189 chr22:30475180-30475189
12	ZNF384	chr22:30474518-30475332	GM12878	blood:	n/a	n/a
13	ELF1	chr22:30474696-30475107	GM12878	blood:	n/a	n/a
14	RELA	chr22:30474658-30475440	GM12878	blood:	n/a	chr22:30475180-30475189 chr22:30475180-30475189
15	RELA	chr22:30474149-30475490	GM12891	blood:	n/a	chr22:30475180-30475189 chr22:30475180-30475189
16	RUNX3	chr22:30474625-30475302	GM12878	blood:	n/a	n/a
17	EBF1	chr22:30474717-30475296	GM12878	blood:	n/a	chr22:30474947-30474958
18	WRNIP1	chr22:30474804-30475316	GM12878	blood:	n/a	n/a
19	RELA	chr22:30474704-30475433	GM18505	blood:	n/a	chr22:30475180-30475189 chr22:30475180-30475189
20	IKZF1	chr22:30474686-30475427	GM12878	blood:	n/a	n/a
21	BATF	chr22:30474886-30475201	GM12878	blood:	n/a	chr22:30475062-30475073
22	FOXM1	chr22:30474743-30475355	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22696781..22697550-chr22:30474676..30475176,2	NB4	blood:

Variant related genes	Relation type
HORMAD2	TF binding region
ENSG00000111731	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10222281	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10483158	0.90[AMR][1000 genomes]
rs11090591	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11090592	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs11090597	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11090600	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11090601	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11704206	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11704885	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11705048	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11705207	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11705418	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12165769	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12166998	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12169403	0.85[CEU][hapmap]
rs12169823	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12330007	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330076	0.87[ASN][1000 genomes]
rs12627944	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.80[AMR][1000 genomes]
rs17647135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17713646	0.87[ASN][1000 genomes]
rs34647160	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3788418	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3788425	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5997567	0.87[ASN][1000 genomes]
rs737905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs737906	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs737907	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs739615	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620935	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9620936	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9620944	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620948	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620955	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625894	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625895	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625896	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625899	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9625910	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625914	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625922	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625924	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625930	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30473400-30476000	Enhancers	Liver	Liver
2	chr22:30473400-30476400	Weak transcription	Fetal Lung	lung
3	chr22:30473800-30475400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr22:30474000-30475400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:30474000-30475400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30474000-30475400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr22:30474000-30475400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr22:30474000-30475600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr22:30474200-30475400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:30474200-30476000	Weak transcription	Lung	lung
11	chr22:30474200-30476200	Weak transcription	Fetal Intestine Large	intestine
12	chr22:30474400-30475400	Weak transcription	Fetal Brain Male	brain
13	chr22:30474400-30475800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:30474400-30476200	Weak transcription	Fetal Intestine Small	intestine
15	chr22:30474400-30476600	Weak transcription	HepG2	liver
16	chr22:30474600-30475200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr22:30474600-30475200	Enhancers	NHEK	skin
18	chr22:30474600-30475400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr22:30474600-30475400	Enhancers	Dnd41	blood
20	chr22:30474600-30475600	Flanking Active TSS	GM12878-XiMat	blood
21	chr22:30474600-30475800	Enhancers	Primary B cells from peripheral blood	blood
22	chr22:30474800-30475200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:30474800-30475200	Enhancers	Brain Anterior Caudate	brain
24	chr22:30474800-30475400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:30474800-30475400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr22:30474800-30475400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30474800-30475400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:30474800-30475400	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:30474800-30475800	Enhancers	Adipose Nuclei	Adipose
30	chr22:30474800-30476000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr22:30474800-30476000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30475000-30475200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr22:30475000-30475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr22:30475000-30475800	Bivalent Enhancer	Fetal Thymus	thymus

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