Variant report

Variant	rs9625551
Chromosome Location	chr22:29140529-29140530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:
2	chr22:29135038..29141691-chr22:29167545..29172967,16	MCF-7	breast:
3	chr22:29139785..29141422-chr22:29182514..29184632,2	MCF-7	breast:
4	chr22:29136431..29140671-chr22:29167494..29170117,5	K562	blood:
5	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
6	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
7	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159873	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10427858	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12330071	0.89[EUR][1000 genomes]
rs17880929	1.00[AFR][1000 genomes]
rs2206061	1.00[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2228260	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28448648	0.81[EUR][1000 genomes]
rs41281603	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56119508	0.96[EUR][1000 genomes]
rs5997391	0.90[JPT][hapmap]
rs5997401	1.00[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005856	0.89[AMR][1000 genomes]
rs6005861	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005870	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005874	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005898	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6005899	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6005924	1.00[AFR][1000 genomes]
rs9306460	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9620817	0.82[JPT][hapmap]
rs9625558	0.81[EUR][1000 genomes]
rs9625565	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9625575	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9625580	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29139000-29140600	Weak transcription	Aorta	Aorta
2	chr22:29139000-29141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:29139000-29143200	Weak transcription	Small Intestine	intestine
4	chr22:29139000-29143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:29139200-29140600	Weak transcription	HSMMtube	muscle
6	chr22:29139200-29141800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:29139200-29144400	Weak transcription	Right Ventricle	heart
8	chr22:29139200-29146000	Weak transcription	Fetal Brain Male	brain
9	chr22:29139200-29153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:29139400-29140600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:29139400-29140600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:29139400-29140800	Genic enhancers	HepG2	liver
13	chr22:29139400-29141800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:29139400-29142800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr22:29139400-29143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:29139400-29144200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr22:29139400-29145000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:29139400-29145600	Strong transcription	HSMM	muscle
19	chr22:29139400-29149400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
21	chr22:29139600-29140600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:29139600-29140800	Strong transcription	Fetal Brain Female	brain
23	chr22:29139600-29141200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:29139600-29141400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:29139600-29141600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:29139600-29144000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29139600-29144600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:29139600-29144600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:29139600-29145800	Strong transcription	Fetal Thymus	thymus
30	chr22:29139600-29146400	Weak transcription	NHLF	lung
31	chr22:29139600-29146800	Strong transcription	Primary T cells from cord blood	blood
32	chr22:29139600-29148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:29139600-29148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:29139600-29149600	Weak transcription	K562	blood
35	chr22:29139800-29141000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:29139800-29141000	Strong transcription	Brain Angular Gyrus	brain
37	chr22:29139800-29141000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:29139800-29141000	Strong transcription	HUVEC	blood vessel
39	chr22:29139800-29141000	Strong transcription	NHDF-Ad	bronchial
40	chr22:29139800-29143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:29139800-29143400	Weak transcription	NHEK	skin
42	chr22:29139800-29143600	Strong transcription	Thymus	Thymus
43	chr22:29139800-29143800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:29139800-29144200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:29139800-29144200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr22:29139800-29144200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:29139800-29144400	Strong transcription	Brain Hippocampus Middle	brain
48	chr22:29139800-29144400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr22:29139800-29144600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr22:29139800-29144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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