Variant report

Variant	rs17444498
Chromosome Location	chr22:29535810-29535811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29195860..29197885-chr22:29533166..29536024,2	K562	blood:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12157998	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056416	0.95[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17451053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523074	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33958791	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898858	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946378	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36020709	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67157227	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713527	0.92[ASN][1000 genomes]
rs713728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878725	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933244	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17444498	MMP11	cis	cerebellum	SCAN
rs17444498	DRG1	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29517200-29546200	Strong transcription	Dnd41	blood
6	chr22:29522400-29541600	Weak transcription	HMEC	breast
7	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
9	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:29525800-29544400	Weak transcription	NHLF	lung
11	chr22:29526000-29536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
13	chr22:29526200-29547000	Weak transcription	K562	blood
14	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
15	chr22:29528000-29539000	Strong transcription	Ovary	ovary
16	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
18	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
20	chr22:29531000-29536200	Weak transcription	Fetal Kidney	kidney
21	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
24	chr22:29531600-29537000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29531800-29537000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:29532600-29536200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:29532600-29536400	Strong transcription	Brain Angular Gyrus	brain
30	chr22:29532600-29538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:29532800-29536000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr22:29532800-29536000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:29532800-29538600	Strong transcription	Left Ventricle	heart
34	chr22:29533000-29536000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:29533000-29536400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:29533000-29536800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:29533000-29538000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
40	chr22:29533200-29543200	Strong transcription	Fetal Stomach	stomach
41	chr22:29533400-29536400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:29533400-29536400	Strong transcription	Spleen	Spleen
43	chr22:29533400-29538400	Strong transcription	Colonic Mucosa	Colon
44	chr22:29533400-29538800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr22:29533400-29539400	Strong transcription	Brain Anterior Caudate	brain
46	chr22:29533600-29538000	Weak transcription	Colon Smooth Muscle	Colon
47	chr22:29533600-29538400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr22:29533600-29542400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr22:29533800-29536600	Strong transcription	Brain Hippocampus Middle	brain
50	chr22:29533800-29538000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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