Variant report

Variant	rs2281193
Chromosome Location	chr22:29281009-29281010
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29280249..29282213-chr22:29433685..29436671,2	MCF-7	breast:
2	chr22:29280662..29283145-chr22:29436035..29437760,2	K562	blood:
3	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
4	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
5	chr22:29137399..29139735-chr22:29278518..29281229,2	MCF-7	breast:
6	chr22:29280624..29284164-chr22:29307760..29311501,3	MCF-7	breast:
7	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5752823	1.00[ASN][1000 genomes]
rs5762883	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3360361	chr22:29278452-29281300	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3379535	chr22:29278477-29281525	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29278600-29281200	Active TSS	Aorta	Aorta
2	chr22:29278600-29281200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr22:29278600-29281600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29278600-29282600	Active TSS	Brain Anterior Caudate	brain
5	chr22:29278800-29281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:29278800-29281200	Active TSS	HSMM	muscle
7	chr22:29278800-29281600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr22:29278800-29281800	Active TSS	Fetal Kidney	kidney
9	chr22:29279000-29281200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:29279000-29281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr22:29279000-29281600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr22:29279000-29282000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:29280000-29281200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:29280000-29281400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr22:29280200-29281200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr22:29280200-29281200	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr22:29280200-29281200	Flanking Active TSS	Right Ventricle	heart
18	chr22:29280200-29281200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr22:29280200-29281400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr22:29280200-29281400	Flanking Active TSS	Placenta	Placenta
21	chr22:29280200-29281400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr22:29280200-29282200	Bivalent/Poised TSS	HepG2	liver
23	chr22:29280400-29281200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:29280400-29281200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr22:29280400-29281200	Flanking Active TSS	Esophagus	oesophagus
26	chr22:29280400-29281200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr22:29280400-29281200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr22:29280400-29281200	Flanking Active TSS	Gastric	stomach
29	chr22:29280400-29281200	Flanking Active TSS	HSMMtube	muscle
30	chr22:29280400-29281200	Flanking Active TSS	NH-A	brain
31	chr22:29280400-29281400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:29280400-29281400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr22:29280400-29281400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr22:29280400-29281400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr22:29280400-29281400	Flanking Active TSS	Fetal Brain Male	brain
36	chr22:29280400-29281400	Flanking Active TSS	Fetal Brain Female	brain
37	chr22:29280400-29281400	Flanking Active TSS	Psoas Muscle	Psoas
38	chr22:29280400-29281400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr22:29280400-29281400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr22:29280400-29281400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr22:29280400-29281400	Flanking Active TSS	K562	blood
42	chr22:29280400-29281600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr22:29280400-29281600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:29280400-29281600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr22:29280400-29282000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:29280400-29282200	Flanking Active TSS	Liver	Liver
47	chr22:29280400-29282200	Flanking Active TSS	HMEC	breast
48	chr22:29280600-29281200	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr22:29280600-29281200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr22:29280600-29281200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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