Variant report

Variant	rs17480313
Chromosome Location	chr22:28283195-28283196
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28282458..28285409-chr22:28313416..28316132,4	MCF-7	breast:
2	chr22:28262052..28264776-chr22:28281551..28284390,2	MCF-7	breast:
3	chr22:28282766..28284835-chr22:28303057..28305816,2	MCF-7	breast:
4	chr22:28282292..28283627-chr22:28405010..28406031,9	MCF-7	breast:
5	chr22:28282198..28283230-chr22:28404993..28406146,8	K562	blood:
6	chr22:28278686..28280659-chr22:28281964..28283752,2	K562	blood:
7	chr22:28283009..28285381-chr22:28406270..28408539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction
ENSG00000235954	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];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16985690	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17389267	1.00[ASN][1000 genomes]
rs17480137	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481471	0.97[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];0.97[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:127 , 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	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:28276000-28283400	Enhancers	Colon Smooth Muscle	Colon
8	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
9	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
12	chr22:28277800-28283200	Weak transcription	Psoas Muscle	Psoas
13	chr22:28277800-28308400	Strong transcription	Dnd41	blood
14	chr22:28278200-28287000	Weak transcription	Small Intestine	intestine
15	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
20	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
21	chr22:28279000-28283200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:28279200-28284800	Weak transcription	Brain Angular Gyrus	brain
25	chr22:28279200-28287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:28279600-28284200	Weak transcription	Fetal Brain Female	brain
28	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
30	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr22:28279800-28292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:28279800-28295400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:28280000-28283200	Weak transcription	Right Atrium	heart
34	chr22:28280000-28284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:28280200-28283200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:28280200-28284400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28280200-28284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:28280200-28284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:28280400-28284200	Genic enhancers	NHDF-Ad	bronchial
40	chr22:28280400-28287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:28280600-28283200	Weak transcription	Esophagus	oesophagus
42	chr22:28280600-28283200	Weak transcription	Gastric	stomach
43	chr22:28280600-28283200	Weak transcription	Lung	lung
44	chr22:28280600-28283200	Enhancers	NHLF	lung
45	chr22:28280600-28283400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr22:28280600-28283400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:28280600-28283800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr22:28280600-28284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr22:28280600-28284200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:28280600-28284200	Weak transcription	HepG2	liver

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