Variant report

Variant	rs16986971
Chromosome Location	chr22:29415481-29415482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29415275..29417001-chr22:29425879..29428311,2	K562	blood:

Variant related genes	Relation type
ENSG00000177993	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11912198	1.00[EUR][1000 genomes]
rs16986908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986925	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986951	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs16986990	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5752850	1.00[EUR][1000 genomes]
rs5762926	1.00[EUR][1000 genomes]
rs5762930	0.89[EUR][1000 genomes]
rs5762931	0.89[EUR][1000 genomes]
rs5762938	1.00[EUR][1000 genomes]
rs5997413	1.00[ASN][1000 genomes]
rs7292372	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882436	1.00[ASN][1000 genomes]
rs73882438	1.00[ASN][1000 genomes]
rs8137391	1.00[AMR][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	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:29405200-29418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29408200-29419400	Weak transcription	Fetal Stomach	stomach
8	chr22:29408200-29419400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:29408600-29419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:29408600-29419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:29410400-29416000	Enhancers	Liver	Liver
13	chr22:29410400-29419200	Weak transcription	Right Atrium	heart
14	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
15	chr22:29410800-29418000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:29411000-29417800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:29411000-29418400	Weak transcription	Right Ventricle	heart
18	chr22:29411000-29418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:29411000-29419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:29411000-29419400	Weak transcription	Left Ventricle	heart
21	chr22:29411000-29422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:29412400-29419400	Weak transcription	K562	blood
23	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:29412600-29415800	Genic enhancers	HepG2	liver
25	chr22:29412600-29418200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:29412600-29418200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:29412800-29418200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:29412800-29419400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:29413000-29418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:29413600-29417800	Weak transcription	A549	lung
31	chr22:29413600-29419400	Weak transcription	Stomach Mucosa	stomach
32	chr22:29413800-29415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:29413800-29416400	Weak transcription	Pancreas	Pancrea
34	chr22:29414000-29417800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:29414200-29419000	Weak transcription	Fetal Lung	lung
36	chr22:29414400-29417800	Weak transcription	Fetal Kidney	kidney
37	chr22:29415000-29416600	Weak transcription	Fetal Intestine Large	intestine
38	chr22:29415000-29418000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:29415200-29415600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:29415200-29417200	Weak transcription	Fetal Intestine Small	intestine
41	chr22:29415200-29418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29415200-29419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:29415200-29419400	Weak transcription	Esophagus	oesophagus
44	chr22:29415200-29422000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:29415200-29424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:29415200-29426200	Weak transcription	Aorta	Aorta

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