Variant report

Variant	rs16988043
Chromosome Location	chr22:30196897-30196898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30196760-30196910	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr22:30196780-30196930	K562	blood:	n/a	n/a
3	CTCF	chr22:30196760-30196910	HepG2	liver:	n/a	n/a
4	RAD21	chr22:30196629-30197027	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr22:30196743-30196992	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:
2	chr22:30192738..30197507-chr22:30207918..30212414,7	MCF-7	breast:
3	chr22:30160556..30163537-chr22:30195523..30197184,3	MCF-7	breast:
4	chr22:30193309..30197041-chr22:30202385..30207780,5	MCF-7	breast:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11090582	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166580	1.00[EUR][1000 genomes]
rs12627866	0.80[ASW][hapmap];0.92[YRI][hapmap]
rs16988011	0.93[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988044	1.00[EUR][1000 genomes]
rs16988062	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56783715	1.00[EUR][1000 genomes]
rs58113244	1.00[EUR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59172206	1.00[EUR][1000 genomes]
rs59237579	1.00[EUR][1000 genomes]
rs59422664	1.00[EUR][1000 genomes]
rs59542747	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60020246	1.00[EUR][1000 genomes]
rs60965931	1.00[EUR][1000 genomes]
rs61432554	1.00[EUR][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7290848	1.00[EUR][1000 genomes]
rs73394816	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394842	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9620930	1.00[EUR][1000 genomes]
rs9625869	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9625890	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
6	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
8	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
12	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr22:30183800-30204800	Strong transcription	Ovary	ovary
15	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
16	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr22:30184000-30198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30186600-30199800	Weak transcription	Fetal Kidney	kidney
23	chr22:30189400-30197200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:30189600-30201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:30189600-30201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:30189800-30197600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:30189800-30201800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:30191600-30198400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr22:30192200-30197000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:30192400-30198200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:30192600-30198400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
34	chr22:30194000-30197800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:30194000-30198000	Genic enhancers	Left Ventricle	heart
36	chr22:30194000-30198200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr22:30194000-30198400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:30194000-30198400	Genic enhancers	Gastric	stomach
39	chr22:30194000-30198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:30194200-30197000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:30194200-30197600	Enhancers	Right Atrium	heart
42	chr22:30194200-30198200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:30194200-30212200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:30194400-30197000	Genic enhancers	Dnd41	blood
45	chr22:30194400-30197800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30194400-30198400	Genic enhancers	Lung	lung
47	chr22:30194600-30198200	Genic enhancers	Stomach Mucosa	stomach
48	chr22:30194600-30198400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr22:30194800-30198000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr22:30195000-30197800	Genic enhancers	Fetal Lung	lung

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