Variant report

Variant	rs9621036
Chromosome Location	chr22:30983868-30983869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30983113..30985414-chr22:30986213..30988243,5	MCF-7	breast:
2	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
3	chr22:30922699..30925574-chr22:30981995..30984625,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100029	Chromatin interaction
ENSG00000128242	Chromatin interaction
ENSG00000214491	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12166405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12169435	1.00[AMR][1000 genomes]
rs42942	0.87[AMR][1000 genomes]
rs7285863	0.81[AFR][1000 genomes]
rs9619126	1.00[AMR][1000 genomes]
rs9621039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9621042	0.81[AFR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30971000-30985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
3	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30971200-30985200	Strong transcription	Placenta Amnion	Placenta Amnion
5	chr22:30971200-30985200	Strong transcription	Dnd41	blood
6	chr22:30971200-30985400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30971200-30985600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:30971200-30985600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:30971200-30985600	Strong transcription	Adipose Nuclei	Adipose
10	chr22:30971200-30986000	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr22:30971400-30985000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr22:30971400-30985400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:30971400-30985600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:30971400-30985600	Strong transcription	Fetal Intestine Small	intestine
15	chr22:30971400-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:30971400-30986000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:30971600-30985400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr22:30971600-30985600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr22:30971600-30985600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:30971600-30985600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:30971600-30985600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr22:30971600-30985600	Strong transcription	Fetal Thymus	thymus
24	chr22:30971600-30985600	Strong transcription	NH-A	brain
25	chr22:30971600-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:30971600-30985800	Strong transcription	Fetal Intestine Large	intestine
27	chr22:30971600-30986000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:30971600-30986000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:30971600-30986000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:30971600-30986000	Strong transcription	Brain Germinal Matrix	brain
31	chr22:30971600-30986000	Strong transcription	Fetal Brain Female	brain
32	chr22:30971800-30985200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:30971800-30985400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:30971800-30985400	Strong transcription	Rectal Smooth Muscle	rectum
35	chr22:30971800-30985600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:30971800-30985600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:30971800-30985600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:30971800-30985600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:30971800-30985600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr22:30971800-30985800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:30971800-30986000	Strong transcription	Primary T cells from cord blood	blood
42	chr22:30972000-30984400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr22:30972000-30985400	Strong transcription	Colon Smooth Muscle	Colon
44	chr22:30972000-30985400	Strong transcription	Left Ventricle	heart
45	chr22:30972000-30985600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:30972000-30985600	Strong transcription	Aorta	Aorta
47	chr22:30972000-30986000	Strong transcription	NHLF	lung
48	chr22:30972200-30985400	Strong transcription	Fetal Lung	lung
49	chr22:30972200-30985400	Strong transcription	Right Ventricle	heart
50	chr22:30972200-30985400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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