Variant report

Variant	rs1962223
Chromosome Location	chr22:33193905-33193906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:33193900-33194050	AG09319	gingival:	n/a	n/a
2	RAD21	chr22:33191785-33194069	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	22:32284948-32287956..22:33190123-33206921	K562	blood:
2	chr22:33055973..33057208-chr22:33192214..33193923,10	MCF-7	breast:
3	chr22:33193803..33196091-chr22:33197743..33200134,2	K562	blood:
4	22:32846948-32860159..22:33190123-33206921	K562	blood:
5	chr22:33056115..33056811-chr22:33192659..33193956,7	MCF-7	breast:

No data

Variant related genes	Relation type
TIMP3	TF binding region
ENSG00000184459	Chromatin interaction
ENSG00000227813	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11089594	0.83[AMR][1000 genomes]
rs130269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs130270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs130274	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs130275	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs130276	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs130287	0.93[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs130525	0.83[AMR][1000 genomes]
rs130530	0.84[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130532	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130533	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs130538	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130548	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130551	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs130559	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130560	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs135149	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4821095	0.83[AMR][1000 genomes]
rs4821096	0.86[CHB][hapmap];0.83[AMR][1000 genomes]
rs5998622	0.83[AMR][1000 genomes]
rs715572	0.84[JPT][hapmap]
rs762887	0.86[CHB][hapmap]
rs80269	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929013	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs929014	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9606991	0.82[AMR][1000 genomes]
rs9606992	0.82[AMR][1000 genomes]
rs9606993	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9609622	0.83[AMR][1000 genomes]
rs9609623	0.80[AMR][1000 genomes]
rs9609631	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33190600-33194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:33191400-33197000	Weak transcription	Fetal Intestine Small	intestine
6	chr22:33192400-33194400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:33193000-33195000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:33193000-33195600	Weak transcription	Spleen	Spleen
9	chr22:33193000-33196200	Weak transcription	Fetal Kidney	kidney
10	chr22:33193000-33196600	Weak transcription	Left Ventricle	heart
11	chr22:33193000-33196800	Weak transcription	Brain Angular Gyrus	brain
12	chr22:33193000-33197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:33193200-33195000	Weak transcription	Placenta	Placenta
14	chr22:33193200-33195600	Weak transcription	Lung	lung
15	chr22:33193200-33195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:33193200-33196000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:33193200-33196200	Weak transcription	NHLF	lung
18	chr22:33193200-33196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:33193200-33196600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:33193200-33196600	Weak transcription	Right Ventricle	heart
21	chr22:33193200-33196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:33193200-33196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33193200-33196800	Weak transcription	Fetal Lung	lung
24	chr22:33193200-33197000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:33193200-33197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:33193200-33197000	Weak transcription	Liver	Liver
27	chr22:33193200-33197200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:33193200-33197200	Weak transcription	Brain Substantia Nigra	brain
29	chr22:33193200-33197200	Weak transcription	Esophagus	oesophagus
30	chr22:33193200-33197200	Weak transcription	Pancreas	Pancrea
31	chr22:33193400-33195400	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:33193400-33195600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:33193400-33195600	Weak transcription	Adipose Nuclei	Adipose
34	chr22:33193400-33195600	Weak transcription	Fetal Stomach	stomach
35	chr22:33193400-33195800	Weak transcription	Fetal Heart	heart
36	chr22:33193400-33196000	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:33193400-33196000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:33193400-33196200	Weak transcription	Right Atrium	heart
39	chr22:33193400-33196200	Weak transcription	NHDF-Ad	bronchial
40	chr22:33193400-33196400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:33193400-33196800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:33193400-33196800	Weak transcription	HMEC	breast
43	chr22:33193400-33197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:33193400-33197000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr22:33193400-33197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:33193400-33197200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:33193600-33195400	Weak transcription	HSMM	muscle
48	chr22:33193600-33195400	Weak transcription	HSMMtube	muscle
49	chr22:33193600-33197000	Weak transcription	Brain Hippocampus Middle	brain
50	chr22:33193600-33197000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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