Variant report

Variant	rs17480971
Chromosome Location	chr22:28311543-28311544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28309477..28311651-chr22:28318341..28320072,2	K562	blood:
2	chr22:28309562..28313647-chr22:28313905..28316499,4	MCF-7	breast:
3	chr22:28292535..28294065-chr22:28309728..28312186,2	MCF-7	breast:
4	chr22:28308235..28310167-chr22:28310580..28312213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction
ENSG00000180957	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1000112	1.00[ASN][1000 genomes]
rs10483139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16985690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17389267	1.00[ASN][1000 genomes]
rs17480137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480369	1.00[ASN][1000 genomes]
rs17480565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34844050	1.00[ASN][1000 genomes]
rs35386208	1.00[ASN][1000 genomes]
rs35633908	1.00[ASN][1000 genomes]
rs7286237	1.00[ASN][1000 genomes]
rs7290640	1.00[ASN][1000 genomes]
rs8135697	0.84[ASN][1000 genomes]
rs8141993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28289000-28312600	Weak transcription	Psoas Muscle	Psoas
3	chr22:28293800-28311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:28295200-28313800	Weak transcription	Colonic Mucosa	Colon
5	chr22:28298400-28314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28299200-28314000	Weak transcription	Spleen	Spleen
7	chr22:28303800-28311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:28303800-28313000	Weak transcription	Fetal Brain Female	brain
9	chr22:28303800-28313200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:28304000-28313200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:28304200-28313000	Weak transcription	Fetal Brain Male	brain
12	chr22:28306400-28313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:28306400-28313800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:28306400-28314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:28306400-28314400	Weak transcription	Esophagus	oesophagus
16	chr22:28306600-28313800	Weak transcription	Lung	lung
17	chr22:28307000-28313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:28307000-28313800	Weak transcription	Fetal Thymus	thymus
19	chr22:28307200-28311600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:28307200-28313600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:28307200-28313800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:28307200-28313800	Weak transcription	Placenta	Placenta
23	chr22:28307400-28312200	Enhancers	Fetal Lung	lung
24	chr22:28307600-28313000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr22:28307600-28313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:28308000-28313800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr22:28308000-28314000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:28308200-28313800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:28308400-28311800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:28308600-28311600	Weak transcription	NHDF-Ad	bronchial
31	chr22:28308600-28312000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:28309000-28311800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr22:28309000-28312000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:28309000-28312000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr22:28309200-28313600	Enhancers	HepG2	liver
36	chr22:28309800-28311800	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:28309800-28312200	Enhancers	Colon Smooth Muscle	Colon
38	chr22:28309800-28312400	Enhancers	Brain Germinal Matrix	brain
39	chr22:28309800-28312400	Weak transcription	HMEC	breast
40	chr22:28309800-28313200	Weak transcription	Brain Angular Gyrus	brain
41	chr22:28309800-28313600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:28309800-28313600	Weak transcription	Thymus	Thymus
43	chr22:28309800-28313800	Enhancers	Liver	Liver
44	chr22:28309800-28313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:28310000-28311600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr22:28310000-28311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr22:28310000-28311600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:28310000-28311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr22:28310000-28311600	Weak transcription	Osteobl	bone
50	chr22:28310000-28311800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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