Variant report

Variant	rs73390250
Chromosome Location	chr22:30823741-30823742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30821810..30824396-chr22:30842591..30845035,2	K562	blood:
2	chr22:30803275..30806677-chr22:30820826..30824180,3	MCF-7	breast:
3	chr12:57480730..57482980-chr22:30821436..30824082,2	MCF-7	breast:
4	chr22:30823322..30825572-chr22:30829369..30832944,6	K562	blood:
5	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
6	chr22:30821818..30823815-chr22:30836918..30838469,2	K562	blood:
7	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100003	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000203606	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000249590	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16988805	1.00[AMR][1000 genomes]
rs16988812	1.00[AMR][1000 genomes]
rs56927176	1.00[AMR][1000 genomes]
rs5753136	1.00[AMR][1000 genomes]
rs57813654	1.00[AMR][1000 genomes]
rs72550762	1.00[AMR][1000 genomes]
rs73390212	1.00[AMR][1000 genomes]
rs73390232	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390257	1.00[AMR][1000 genomes]
rs73404588	1.00[AMR][1000 genomes]
rs73404596	1.00[AMR][1000 genomes]
rs73404601	1.00[AMR][1000 genomes]
rs73406424	1.00[AMR][1000 genomes]
rs73406427	1.00[AMR][1000 genomes]
rs73406437	1.00[AMR][1000 genomes]
rs73406450	1.00[AMR][1000 genomes]
rs73406456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822200-30823800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr22:30822400-30826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
4	chr22:30822600-30825600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:30822600-30825600	Weak transcription	Fetal Kidney	kidney
6	chr22:30822600-30827000	Weak transcription	Psoas Muscle	Psoas
7	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
8	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:30822800-30824000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:30822800-30824200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:30822800-30825200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:30822800-30826400	Weak transcription	NHLF	lung
13	chr22:30822800-30828000	Weak transcription	Fetal Intestine Large	intestine
14	chr22:30822800-30828200	Weak transcription	Ovary	ovary
15	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
16	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
17	chr22:30823000-30823800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr22:30823000-30823800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:30823000-30823800	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:30823000-30824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:30823000-30824400	Weak transcription	Liver	Liver
22	chr22:30823000-30825200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:30823000-30825600	Strong transcription	Fetal Stomach	stomach
24	chr22:30823000-30825800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:30823000-30826000	Strong transcription	Fetal Intestine Small	intestine
26	chr22:30823000-30826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:30823000-30826400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30823000-30827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:30823000-30831000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr22:30823000-30831000	Weak transcription	NH-A	brain
31	chr22:30823000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:30823000-30831200	Weak transcription	Fetal Thymus	thymus
33	chr22:30823000-30831600	Weak transcription	Colonic Mucosa	Colon
34	chr22:30823200-30823800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:30823200-30824000	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr22:30823200-30824000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:30823200-30824200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30823200-30824200	Weak transcription	Fetal Brain Female	brain
39	chr22:30823200-30824200	Weak transcription	Gastric	stomach
40	chr22:30823200-30824600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:30823200-30824600	Strong transcription	A549	lung
42	chr22:30823200-30825000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:30823200-30825000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:30823200-30825000	Strong transcription	K562	blood
45	chr22:30823200-30825000	Strong transcription	NHEK	skin
46	chr22:30823200-30825200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:30823200-30825200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:30823200-30825400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr22:30823200-30825400	Weak transcription	Adipose Nuclei	Adipose
50	chr22:30823200-30825600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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