Variant report

Variant	rs16987136
Chromosome Location	chr22:29534621-29534622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29500096..29501834-chr22:29533331..29535067,2	K562	blood:
2	chr22:29195860..29197885-chr22:29533166..29536024,2	K562	blood:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs132273	1.00[ASN][1000 genomes]
rs16987043	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16987073	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16987081	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16987099	0.86[ASN][1000 genomes]
rs16987139	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16987147	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4429563	0.86[ASN][1000 genomes]
rs4508707	1.00[CHB][hapmap]
rs6519774	0.86[ASN][1000 genomes]
rs73882455	0.86[ASN][1000 genomes]
rs73882458	0.86[ASN][1000 genomes]
rs8141696	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs8141812	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs8142699	0.86[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

No data

Chromatin state (count:83 , 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	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29522400-29541600	Weak transcription	HMEC	breast
8	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
10	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:29525800-29535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:29525800-29544400	Weak transcription	NHLF	lung
13	chr22:29526000-29535600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:29526000-29536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
16	chr22:29526200-29547000	Weak transcription	K562	blood
17	chr22:29526400-29535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
19	chr22:29528000-29539000	Strong transcription	Ovary	ovary
20	chr22:29528200-29535600	Strong transcription	Fetal Lung	lung
21	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
23	chr22:29529800-29535800	Strong transcription	Fetal Thymus	thymus
24	chr22:29530000-29535600	Weak transcription	HepG2	liver
25	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:29530400-29535800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr22:29531000-29536200	Weak transcription	Fetal Kidney	kidney
29	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
32	chr22:29531600-29537000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:29531800-29537000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:29532600-29534800	Strong transcription	Aorta	Aorta
37	chr22:29532600-29536200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:29532600-29536400	Strong transcription	Brain Angular Gyrus	brain
39	chr22:29532600-29538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:29532800-29534800	Strong transcription	Gastric	stomach
41	chr22:29532800-29534800	Strong transcription	Pancreas	Pancrea
42	chr22:29532800-29536000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr22:29532800-29536000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29532800-29538600	Strong transcription	Left Ventricle	heart
45	chr22:29533000-29535000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr22:29533000-29536000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:29533000-29536400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:29533000-29536800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:29533000-29538000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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