Variant report

Variant	rs13057948
Chromosome Location	chr22:28405624-28405625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28282181..28282812-chr22:28405106..28405979,3	MCF-7	breast:
2	chr22:28276420..28277471-chr22:28404905..28405994,4	MCF-7	breast:
3	chr22:28287234..28287912-chr22:28405296..28405956,2	MCF-7	breast:
4	chr22:28393472..28395855-chr22:28403235..28405878,4	K562	blood:
5	chr22:28386554..28387584-chr22:28405047..28405963,3	MCF-7	breast:
6	chr22:28282292..28283627-chr22:28405010..28406031,9	MCF-7	breast:
7	chr22:28282198..28283230-chr22:28404993..28406146,8	K562	blood:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13054964	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs13055218	0.98[EUR][1000 genomes]
rs13055244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13055409	0.95[EUR][1000 genomes]
rs13055548	0.85[CEU][hapmap];1.00[AMR][1000 genomes]
rs13057007	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13057353	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13058493	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs135113	0.82[CEU][hapmap]
rs135642	0.82[CEU][hapmap]
rs1569700	0.85[CEU][hapmap]
rs28360522	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs34013124	1.00[EUR][1000 genomes]
rs34031771	1.00[AMR][1000 genomes]
rs34189918	0.98[EUR][1000 genomes]
rs34364992	0.98[EUR][1000 genomes]
rs34625726	0.98[EUR][1000 genomes]
rs34946887	0.86[EUR][1000 genomes]
rs35098100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35182834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35286067	0.90[EUR][1000 genomes]
rs35568348	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35568804	1.00[AMR][1000 genomes]
rs35649017	0.98[EUR][1000 genomes]
rs35750499	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35866626	1.00[AFR][1000 genomes]
rs35906248	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36060887	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41281591	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs71325264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71325266	1.00[AMR][1000 genomes]
rs71325268	1.00[AFR][1000 genomes]
rs71325269	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71325272	1.00[AFR][1000 genomes]
rs71325273	0.98[EUR][1000 genomes]
rs71325275	0.90[EUR][1000 genomes]
rs71325276	0.90[EUR][1000 genomes]
rs736531	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs767919	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs8141981	0.95[EUR][1000 genomes]
rs910009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:28386200-28405800	Strong transcription	Dnd41	blood
3	chr22:28386200-28416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:28389200-28410000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:28389200-28413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:28390000-28414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:28390400-28416200	Weak transcription	Colonic Mucosa	Colon
8	chr22:28393400-28408800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:28394800-28414000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:28395000-28416400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:28395200-28409200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:28395400-28406400	Weak transcription	Aorta	Aorta
13	chr22:28395400-28409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:28395600-28408200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:28395600-28413000	Weak transcription	Pancreas	Pancrea
16	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
17	chr22:28396800-28407600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:28397200-28409400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:28397200-28423000	Weak transcription	HepG2	liver
20	chr22:28397400-28408800	Weak transcription	Brain Angular Gyrus	brain
21	chr22:28397400-28412000	Weak transcription	Placenta	Placenta
22	chr22:28399400-28425800	Weak transcription	Liver	Liver
23	chr22:28399600-28409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:28400800-28410200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:28401600-28409000	Strong transcription	Fetal Muscle Leg	muscle
26	chr22:28401600-28412000	Weak transcription	Thymus	Thymus
27	chr22:28401800-28407800	Weak transcription	Lung	lung
28	chr22:28401800-28408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:28401800-28410400	Weak transcription	Fetal Thymus	thymus
30	chr22:28402200-28408000	Weak transcription	Right Ventricle	heart
31	chr22:28402400-28406200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:28402400-28409600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:28404000-28405800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:28404000-28405800	Enhancers	Rectal Smooth Muscle	rectum
35	chr22:28404000-28408000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:28404200-28405800	Genic enhancers	Fetal Stomach	stomach
37	chr22:28404600-28405800	Enhancers	NH-A	brain
38	chr22:28404800-28405800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:28405000-28405800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr22:28405000-28405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:28405000-28405800	Enhancers	Brain Substantia Nigra	brain
42	chr22:28405000-28405800	Enhancers	Fetal Brain Male	brain
43	chr22:28405000-28405800	Enhancers	Gastric	stomach
44	chr22:28405000-28406000	Enhancers	Fetal Brain Female	brain
45	chr22:28405000-28406800	Enhancers	Fetal Heart	heart
46	chr22:28405000-28407000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr22:28405200-28405800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr22:28405200-28405800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr22:28405200-28405800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:28405200-28405800	Enhancers	Fetal Intestine Large	intestine

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