Variant report

Variant	rs16985862
Chromosome Location	chr22:28405127-28405128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:28276059..28277066-chr22:28405009..28405550,3	K562	blood:
2	chr22:28282181..28282812-chr22:28405106..28405979,3	MCF-7	breast:
3	chr22:28276420..28277471-chr22:28404905..28405994,4	MCF-7	breast:
4	chr22:28401032..28403259-chr22:28403789..28405576,2	K562	blood:
5	chr22:27152744..27153262-chr22:28404996..28405571,2	K562	blood:
6	chr22:28393472..28395855-chr22:28403235..28405878,4	K562	blood:
7	chr22:28386554..28387584-chr22:28405047..28405963,3	MCF-7	breast:
8	chr22:28282292..28283627-chr22:28405010..28406031,9	MCF-7	breast:
9	chr22:28282198..28283230-chr22:28404993..28406146,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10483141	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135637	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135638	0.81[AMR][1000 genomes]
rs135641	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135642	1.00[ASN][1000 genomes]
rs135643	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135644	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135645	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs135647	0.81[AMR][1000 genomes]
rs135649	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135655	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135659	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16985925	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985933	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985951	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16986244	0.91[AMR][1000 genomes]
rs16986248	0.91[AMR][1000 genomes]
rs16986251	0.91[AMR][1000 genomes]
rs16986254	0.91[AMR][1000 genomes]
rs16986257	0.91[AMR][1000 genomes]
rs17391737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17481471	0.91[AMR][1000 genomes]
rs17482652	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17483227	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17483998	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2038286	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2345011	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2881204	0.91[AMR][1000 genomes]
rs55868187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5752697	0.81[AMR][1000 genomes]
rs7286237	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7290640	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs731050	1.00[ASN][1000 genomes]
rs8135697	0.82[AMR][1000 genomes];0.91[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
2	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:28386200-28405800	Strong transcription	Dnd41	blood
4	chr22:28386200-28416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:28387400-28405200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:28389200-28410000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:28389200-28413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:28390000-28414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:28390400-28416200	Weak transcription	Colonic Mucosa	Colon
10	chr22:28392200-28405200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:28393400-28408800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:28394800-28414000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:28395000-28416400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:28395200-28405200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:28395200-28409200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:28395400-28406400	Weak transcription	Aorta	Aorta
17	chr22:28395400-28409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:28395600-28408200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:28395600-28413000	Weak transcription	Pancreas	Pancrea
20	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
21	chr22:28396800-28407600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:28397200-28409400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:28397200-28423000	Weak transcription	HepG2	liver
24	chr22:28397400-28408800	Weak transcription	Brain Angular Gyrus	brain
25	chr22:28397400-28412000	Weak transcription	Placenta	Placenta
26	chr22:28398000-28405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:28398400-28405600	Weak transcription	Esophagus	oesophagus
28	chr22:28399400-28425800	Weak transcription	Liver	Liver
29	chr22:28399600-28409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:28400600-28405200	Weak transcription	Fetal Intestine Large	intestine
31	chr22:28400800-28410200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:28401600-28405200	Weak transcription	Adipose Nuclei	Adipose
33	chr22:28401600-28405200	Weak transcription	Fetal Lung	lung
34	chr22:28401600-28409000	Strong transcription	Fetal Muscle Leg	muscle
35	chr22:28401600-28412000	Weak transcription	Thymus	Thymus
36	chr22:28401800-28407800	Weak transcription	Lung	lung
37	chr22:28401800-28408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:28401800-28410400	Weak transcription	Fetal Thymus	thymus
39	chr22:28402200-28405600	Weak transcription	Spleen	Spleen
40	chr22:28402200-28408000	Weak transcription	Right Ventricle	heart
41	chr22:28402400-28406200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr22:28402400-28409600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:28403400-28405200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:28403400-28405600	Enhancers	HSMMtube	muscle
45	chr22:28403800-28405600	Enhancers	Stomach Smooth Muscle	stomach
46	chr22:28404000-28405800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:28404000-28405800	Enhancers	Rectal Smooth Muscle	rectum
48	chr22:28404000-28408000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:28404200-28405400	Enhancers	Colon Smooth Muscle	Colon
50	chr22:28404200-28405800	Genic enhancers	Fetal Stomach	stomach

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