Variant report

Variant	rs16987014
Chromosome Location	chr22:29458788-29458789
allele	A/G
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	CTCF	chr22:29458640-29458790	HepG2	liver:	n/a	n/a
2	REST	chr22:29458082-29458800	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr22:29458710-29458794	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C22orf31	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1022482	0.84[EUR][1000 genomes]
rs10483154	0.85[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12160337	0.89[EUR][1000 genomes]
rs12628129	1.00[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs12628787	0.85[CEU][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs12628791	0.85[CEU][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs16987051	0.85[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs16987052	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs16987083	0.85[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs16987084	1.00[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs28817997	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6519772	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs7286554	0.84[EUR][1000 genomes]
rs7286634	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7287223	0.85[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7289560	1.00[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs8135301	0.85[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs8142545	0.84[EUR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 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	chr22:29451800-29465200	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29451800-29467000	Weak transcription	Ovary	ovary
3	chr22:29453000-29461000	Weak transcription	Dnd41	blood
4	chr22:29455800-29465600	Weak transcription	K562	blood
5	chr22:29457600-29459400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:29458000-29458800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:29458000-29459000	Enhancers	HMEC	breast
8	chr22:29458200-29458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr22:29458200-29458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29458200-29458800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29458200-29458800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:29458200-29459000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29458200-29459000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr22:29458200-29459000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:29458200-29459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:29458200-29459200	Enhancers	Fetal Muscle Leg	muscle
17	chr22:29458200-29459400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:29458400-29458800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr22:29458400-29458800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr22:29458400-29458800	Flanking Active TSS	HepG2	liver
21	chr22:29458400-29459000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:29458400-29459000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr22:29458400-29459000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:29458400-29459000	Enhancers	Psoas Muscle	Psoas
25	chr22:29458400-29459000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:29458400-29459200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:29458400-29459200	Enhancers	HSMMtube	muscle
28	chr22:29458600-29458800	Enhancers	Fetal Thymus	thymus
29	chr22:29458600-29459000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:29458600-29459000	Enhancers	Fetal Muscle Trunk	muscle
31	chr22:29458600-29459000	Enhancers	Pancreas	Pancrea
32	chr22:29458600-29459200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:29458600-29459600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:29458600-29466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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