Variant report

Variant	rs16991252
Chromosome Location	chr22:33213923-33213924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:33210332-33222413	ProgFib	skin:	n/a	n/a
2	POLR2A	chr22:33211758-33215651	U87	brain:	n/a	n/a
3	POLR2A	chr22:33199121-33217873	HepG2	liver:	n/a	n/a
4	POLR2A	chr22:33201462-33217796	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:33212300-33215612	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32162110-32166713..22:33208968-33216036	Hela-S3	cervix:
2	chr22:33209680..33212558-chr22:33212687..33215564,2	K562	blood:
3	22:32920308-32927723..22:33208968-33216036	H1-hESC	embryonic stem cell:	embryo

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-2	chr22:33210162-33216253	ENSG00000251658

No data

Variant related genes	Relation type
ENSG00000197047	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000185666	Chromatin interaction

rs_ID	r²[population]
rs130558	0.80[YRI][hapmap]
rs16991152	1.00[EUR][1000 genomes]
rs16991318	1.00[EUR][1000 genomes]
rs16991417	1.00[AMR][1000 genomes]
rs16991442	1.00[AMR][1000 genomes]
rs35396081	1.00[AMR][1000 genomes]
rs55843131	1.00[AMR][1000 genomes]
rs56283234	1.00[AMR][1000 genomes]
rs57139579	1.00[AMR][1000 genomes]
rs57213553	1.00[EUR][1000 genomes]
rs57490118	1.00[AMR][1000 genomes]
rs57620882	1.00[AMR][1000 genomes]
rs57966112	1.00[AMR][1000 genomes]
rs58338477	1.00[EUR][1000 genomes]
rs58394026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58627239	1.00[AMR][1000 genomes]
rs58709981	1.00[AMR][1000 genomes]
rs5998641	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5998642	1.00[ASW][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5998647	1.00[AMR][1000 genomes]
rs60903857	1.00[AMR][1000 genomes]
rs61586836	1.00[EUR][1000 genomes]
rs7288955	1.00[EUR][1000 genomes]
rs73410635	1.00[EUR][1000 genomes]
rs73410648	1.00[EUR][1000 genomes]
rs73881773	1.00[AMR][1000 genomes]
rs73881787	1.00[AMR][1000 genomes]
rs73881789	1.00[EUR][1000 genomes]
rs73881794	1.00[AMR][1000 genomes]
rs73881795	1.00[AMR][1000 genomes]
rs73881801	1.00[AMR][1000 genomes]
rs73881802	1.00[EUR][1000 genomes]
rs73881903	1.00[AMR][1000 genomes]
rs73881904	1.00[EUR][1000 genomes]
rs73881907	1.00[AMR][1000 genomes]
rs73881908	1.00[EUR][1000 genomes]
rs73881909	1.00[EUR][1000 genomes]
rs73885104	1.00[AMR][1000 genomes]
rs73885105	1.00[EUR][1000 genomes]
rs73885107	1.00[AMR][1000 genomes]
rs73885108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73885112	1.00[EUR][1000 genomes]
rs73885113	1.00[EUR][1000 genomes]
rs73885114	1.00[EUR][1000 genomes]
rs73885115	1.00[AMR][1000 genomes]
rs73885117	1.00[AMR][1000 genomes]
rs73885120	1.00[EUR][1000 genomes]
rs73885121	1.00[EUR][1000 genomes]
rs73885122	1.00[AMR][1000 genomes]
rs73885123	1.00[EUR][1000 genomes]
rs80267	0.80[YRI][hapmap]
rs8138110	1.00[EUR][1000 genomes]
rs8141493	1.00[EUR][1000 genomes]
rs8142144	1.00[EUR][1000 genomes]
rs8142191	1.00[EUR][1000 genomes]
rs8142286	1.00[AMR][1000 genomes]
rs9619287	1.00[AMR][1000 genomes]

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:33200600-33215200	Weak transcription	NHEK	skin
3	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
5	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:33201600-33226200	Weak transcription	NH-A	brain
7	chr22:33202000-33220000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:33203200-33223600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:33204600-33220200	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:33204800-33227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:33205000-33214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33205000-33216200	Weak transcription	NHLF	lung
13	chr22:33205200-33214200	Enhancers	Colon Smooth Muscle	Colon
14	chr22:33205200-33219800	Weak transcription	Brain Angular Gyrus	brain
15	chr22:33206000-33214200	Weak transcription	Fetal Lung	lung
16	chr22:33206400-33220800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:33206600-33214200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:33206600-33214200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr22:33206600-33219800	Strong transcription	Osteobl	bone
20	chr22:33206800-33214600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:33206800-33214800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:33206800-33224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:33207000-33214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:33207000-33217000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:33207000-33226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:33207800-33215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:33209000-33214800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:33209400-33215000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:33210800-33216800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:33211000-33216600	Genic enhancers	Lung	lung
31	chr22:33211000-33218400	Strong transcription	HepG2	liver
32	chr22:33211000-33221400	Genic enhancers	Adipose Nuclei	Adipose
33	chr22:33211000-33225600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr22:33211000-33225800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
36	chr22:33211200-33217800	Genic enhancers	Fetal Stomach	stomach
37	chr22:33211200-33218800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:33211400-33217200	Weak transcription	Ovary	ovary
39	chr22:33211400-33220600	Weak transcription	Fetal Kidney	kidney
40	chr22:33211600-33214200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:33211600-33215200	Weak transcription	NHDF-Ad	bronchial
42	chr22:33211800-33214000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:33211800-33214000	Enhancers	Brain Substantia Nigra	brain
44	chr22:33211800-33218600	Genic enhancers	Placenta	Placenta
45	chr22:33212000-33214000	Weak transcription	HMEC	breast
46	chr22:33212000-33214400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:33212000-33214600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:33212000-33215800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:33212000-33218200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:33212000-33218600	Genic enhancers	Fetal Muscle Leg	muscle

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