Variant report

Variant	rs17712103
Chromosome Location	chr22:30304560-30304561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
2	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
3	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
4	chr22:30303958..30305806-chr22:30307869..30310153,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11703594	1.00[AFR][1000 genomes]
rs11704321	1.00[AFR][1000 genomes]
rs17554391	1.00[AFR][1000 genomes]
rs17643858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17711479	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
4	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr22:30299800-30308400	Weak transcription	Lung	lung
10	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
11	chr22:30301400-30308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:30302200-30308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30302200-30308400	Weak transcription	Gastric	stomach
14	chr22:30302800-30304600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:30302800-30305200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:30303000-30304600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr22:30303000-30304600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr22:30303000-30304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:30303000-30304800	Enhancers	Fetal Heart	heart
20	chr22:30303000-30305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:30303000-30305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:30303200-30304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:30303200-30304600	Enhancers	Fetal Muscle Leg	muscle
24	chr22:30303200-30304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:30303200-30304800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr22:30303200-30305200	Enhancers	Ovary	ovary
27	chr22:30303200-30305400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:30303400-30304600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr22:30303400-30304600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:30303400-30304600	Enhancers	Adipose Nuclei	Adipose
31	chr22:30303400-30304600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:30303400-30304600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr22:30303400-30304600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr22:30303400-30304600	Enhancers	HepG2	liver
35	chr22:30303400-30304600	Enhancers	HSMMtube	muscle
36	chr22:30303400-30304600	Enhancers	HUVEC	blood vessel
37	chr22:30303400-30304800	Enhancers	Brain Substantia Nigra	brain
38	chr22:30303400-30304800	Enhancers	Fetal Lung	lung
39	chr22:30303400-30304800	Enhancers	HMEC	breast
40	chr22:30303400-30304800	Enhancers	HSMM	muscle
41	chr22:30303400-30305400	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:30303400-30305600	Enhancers	Fetal Intestine Small	intestine
43	chr22:30303400-30305600	Enhancers	Stomach Mucosa	stomach
44	chr22:30303400-30308400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr22:30303600-30304600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:30303600-30304600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr22:30303600-30304600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:30303600-30304600	Enhancers	Brain Angular Gyrus	brain
49	chr22:30303600-30304600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr22:30303600-30305400	Enhancers	Colon Smooth Muscle	Colon

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