Variant report

Variant	rs17364547
Chromosome Location	chr2:10822452-10822453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10819657..10821500-chr2:10821879..10824804,2	K562	blood:
2	chr2:10816644..10819055-chr2:10820905..10823726,2	K562	blood:
3	chr2:10822225..10825450-chr2:10827057..10830175,3	MCF-7	breast:
4	chr2:10816402..10820523-chr2:10820576..10823374,3	MCF-7	breast:
5	chr2:10816629..10819592-chr2:10820198..10823726,5	K562	blood:
6	chr2:10820804..10823276-chr2:10830181..10831705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115761	Chromatin interaction
ENSG00000243819	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178212	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10178247	0.82[ASN][1000 genomes]
rs11695330	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13005359	0.81[ASN][1000 genomes]
rs1586622	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1586623	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17364568	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110775	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357656	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4233884	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4586606	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4614910	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4669605	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669606	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4669607	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55674834	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58445061	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62127228	0.86[EUR][1000 genomes]
rs62127230	0.82[EUR][1000 genomes]
rs6715461	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72777324	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72777328	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72777332	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72777335	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593172	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs759398	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9798203	0.84[ASN][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
3	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
4	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10794000-10823600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
7	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:10797400-10823600	Weak transcription	Psoas Muscle	Psoas
10	chr2:10799200-10826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:10799400-10823200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:10799800-10823200	Weak transcription	Colonic Mucosa	Colon
13	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:10802800-10823400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:10805000-10822800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:10805000-10823600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
20	chr2:10806200-10828200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:10806600-10823600	Weak transcription	Ovary	ovary
22	chr2:10807600-10828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:10808200-10828000	Weak transcription	Gastric	stomach
24	chr2:10808200-10828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:10808400-10828000	Weak transcription	NHLF	lung
26	chr2:10810200-10826600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:10810400-10824800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:10811600-10824800	Strong transcription	HepG2	liver
29	chr2:10812400-10826400	Weak transcription	Spleen	Spleen
30	chr2:10812400-10827400	Weak transcription	Esophagus	oesophagus
31	chr2:10812400-10827400	Weak transcription	Right Ventricle	heart
32	chr2:10813200-10823600	Weak transcription	Pancreas	Pancrea
33	chr2:10813200-10826400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:10813200-10827400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:10813200-10828000	Weak transcription	Lung	lung
36	chr2:10813200-10828200	Weak transcription	Small Intestine	intestine
37	chr2:10813200-10828400	Weak transcription	HSMMtube	muscle
38	chr2:10813200-10829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:10814400-10823400	Weak transcription	HUVEC	blood vessel
40	chr2:10814600-10823000	Weak transcription	Hela-S3	cervix
41	chr2:10815000-10827600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:10815400-10823600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:10816000-10826600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:10816400-10823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:10816400-10827400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:10816600-10823600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:10816600-10826600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:10816600-10826800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:10816800-10826600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:10817200-10824000	Strong transcription	Primary T cells from cord blood	blood

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