Variant report

Variant	rs16987090
Chromosome Location	chr22:29450107-29450108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29429778..29432047-chr22:29449305..29452097,2	K562	blood:
2	chr22:29448833..29450694-chr22:29548349..29551156,2	K562	blood:
3	chr22:29448397..29450406-chr22:29453506..29455182,2	K562	blood:
4	chr22:29449716..29451532-chr22:29466925..29469548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10483153	0.89[EUR][1000 genomes]
rs11912498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986993	0.89[EUR][1000 genomes]
rs1986295	0.89[EUR][1000 genomes]
rs2294240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41382448	1.00[JPT][hapmap]
rs4823004	0.89[EUR][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
2	chr22:29437200-29450800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:29437800-29450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29438400-29451800	Strong transcription	Fetal Intestine Small	intestine
5	chr22:29439000-29450200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:29440000-29451400	Weak transcription	Fetal Thymus	thymus
7	chr22:29441000-29451200	Weak transcription	HSMM	muscle
8	chr22:29441000-29457000	Weak transcription	HUVEC	blood vessel
9	chr22:29441200-29458000	Weak transcription	HMEC	breast
10	chr22:29443800-29458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:29444600-29450200	Weak transcription	Brain Substantia Nigra	brain
12	chr22:29444600-29450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:29444600-29451400	Weak transcription	Fetal Brain Male	brain
14	chr22:29445400-29454400	Weak transcription	Fetal Lung	lung
15	chr22:29445800-29451200	Weak transcription	A549	lung
16	chr22:29446000-29450600	Weak transcription	Dnd41	blood
17	chr22:29446000-29454800	Weak transcription	K562	blood
18	chr22:29446200-29450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr22:29446400-29451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:29447000-29450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:29447000-29450200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:29447000-29450600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:29447200-29450200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:29447200-29450400	Weak transcription	Brain Angular Gyrus	brain
25	chr22:29447200-29450600	Weak transcription	Esophagus	oesophagus
26	chr22:29447200-29450600	Weak transcription	Right Ventricle	heart
27	chr22:29447200-29450800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:29447200-29451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:29447200-29455000	Weak transcription	Gastric	stomach
30	chr22:29447200-29455800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:29447200-29456600	Weak transcription	Placenta	Placenta
32	chr22:29447200-29457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:29447200-29458200	Weak transcription	Osteobl	bone
34	chr22:29447200-29458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:29447400-29450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:29447400-29450400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:29447400-29450400	Weak transcription	HSMMtube	muscle
38	chr22:29447400-29450600	Weak transcription	Ovary	ovary
39	chr22:29447400-29450600	Weak transcription	Pancreas	Pancrea
40	chr22:29447400-29450600	Weak transcription	Spleen	Spleen
41	chr22:29447400-29450800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:29447400-29451400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:29447400-29451600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:29447400-29452400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr22:29447400-29452800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:29447400-29452800	Weak transcription	Fetal Intestine Large	intestine
47	chr22:29447400-29453200	Weak transcription	Fetal Brain Female	brain
48	chr22:29447400-29454400	Weak transcription	Aorta	Aorta
49	chr22:29447400-29454800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr22:29447400-29454800	Weak transcription	Lung	lung

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