Variant report

Variant	rs10195007
Chromosome Location	chr2:73404479-73404480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73404294..73405119-chr2:73439702..73440467,2	MCF-7	breast:
2	chr2:73390701..73391381-chr2:73404188..73405054,3	MCF-7	breast:
3	chr2:73338181..73340964-chr2:73403883..73405877,2	K562	blood:
4	chr2:73386617..73388590-chr2:73403254..73406229,2	K562	blood:
5	chr2:73312380..73313354-chr2:73404137..73405275,6	MCF-7	breast:
6	chr2:73309989..73312772-chr2:73401984..73404502,2	K562	blood:
7	chr2:73119602..73121354-chr2:73403959..73405173,8	MCF-7	breast:
8	chr2:73402239..73405962-chr2:73460266..73463336,8	MCF-7	breast:
9	chr2:73404224..73404765-chr2:73487236..73488061,2	K562	blood:
10	chr2:73385954..73388275-chr2:73403008..73405949,2	MCF-7	breast:
11	chr2:73312393..73313765-chr2:73404147..73405159,7	K562	blood:
12	chr2:73383412..73384391-chr2:73404284..73404953,3	MCF-7	breast:
13	chr2:73089411..73090326-chr2:73404255..73404960,4	K562	blood:
14	chr2:73312164..73314487-chr2:73402908..73404821,2	K562	blood:
15	chr2:73219841..73220628-chr2:73404226..73405455,7	K562	blood:
16	chr2:73294173..73300543-chr2:73401551..73404671,7	K562	blood:
17	chr2:73200523..73201398-chr2:73404235..73404770,2	MCF-7	breast:
18	chr2:73399970..73401792-chr2:73404374..73406041,2	MCF-7	breast:
19	chr2:73404297..73405102-chr2:73439557..73440417,4	MCF-7	breast:
20	chr2:73402837..73404509-chr2:73495123..73497524,2	MCF-7	breast:
21	chr2:73308519..73311489-chr2:73401817..73404502,2	K562	blood:
22	chr2:73403449..73405771-chr2:73417235..73420187,2	K562	blood:
23	chr2:73119541..73120958-chr2:73404160..73405203,8	K562	blood:
24	chr2:73401151..73404803-chr2:73459645..73462952,5	K562	blood:
25	chr2:73403062..73406723-chr2:73438062..73442005,6	MCF-7	breast:
26	chr2:73403840..73406267-chr2:73486278..73488731,2	K562	blood:
27	chr2:73404324..73405000-chr2:73441261..73442106,2	MCF-7	breast:
28	chr2:73295500..73300396-chr2:73401835..73404671,6	K562	blood:
29	chr2:73220082..73220875-chr2:73404143..73405097,3	MCF-7	breast:
30	chr2:73216397..73218640-chr2:73402829..73404519,2	MCF-7	breast:
31	chr2:73337950..73340511-chr2:73402107..73405112,3	MCF-7	breast:
32	chr2:72997856..72998638-chr2:73404190..73404782,2	K562	blood:
33	chr2:73390541..73391557-chr2:73404306..73404853,3	K562	blood:
34	chr2:73404230..73405156-chr2:73487356..73488041,2	MCF-7	breast:
35	chr2:73403531..73405091-chr2:73460134..73462889,2	MCF-7	breast:
36	chr2:73403130..73405852-chr2:73439618..73442290,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272702	Chromatin interaction
ENSG00000135631	Chromatin interaction
ENSG00000135632	Chromatin interaction
ENSG00000135617	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000135624	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10048666	0.89[ASN][1000 genomes]
rs10048720	0.89[ASN][1000 genomes]
rs10048837	0.89[ASN][1000 genomes]
rs10048838	0.89[ASN][1000 genomes]
rs10185970	0.89[ASN][1000 genomes]
rs10193579	0.89[ASN][1000 genomes]
rs10195282	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198711	1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	1.00[ASN][1000 genomes]
rs11893547	1.00[ASN][1000 genomes]
rs13009208	1.00[ASN][1000 genomes]
rs13385938	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	0.89[ASN][1000 genomes]
rs13404992	1.00[ASN][1000 genomes]
rs13409784	0.89[ASN][1000 genomes]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	1.00[ASN][1000 genomes]
rs17008862	1.00[ASN][1000 genomes]
rs17008864	1.00[ASN][1000 genomes]
rs2043092	1.00[ASN][1000 genomes]
rs2288632	1.00[ASN][1000 genomes]
rs28464603	1.00[ASN][1000 genomes]
rs28494567	1.00[ASN][1000 genomes]
rs3768636	1.00[ASN][1000 genomes]
rs3820701	1.00[ASN][1000 genomes]
rs57321619	0.89[ASN][1000 genomes]
rs60913601	1.00[ASN][1000 genomes]
rs61534579	1.00[ASN][1000 genomes]
rs6757079	1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:73402200-73404600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:73402200-73405000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr2:73402400-73404600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:73402400-73404600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:73402400-73404600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
6	chr2:73402400-73404600	Flanking Active TSS	HUVEC	blood vessel
7	chr2:73402400-73405200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:73402400-73405400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:73402600-73404600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr2:73402600-73404600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
11	chr2:73402600-73404600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:73402600-73404600	Flanking Active TSS	Liver	Liver
13	chr2:73402600-73404800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:73402600-73405000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:73402600-73405000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:73402600-73405000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:73402600-73405400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:73402800-73404600	Active TSS	Aorta	Aorta
19	chr2:73402800-73404800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:73402800-73404800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:73402800-73404800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:73403000-73404600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:73403000-73404600	Active TSS	Psoas Muscle	Psoas
24	chr2:73403000-73405000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:73403200-73404600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:73403200-73404600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:73403200-73404600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr2:73403200-73404600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr2:73403200-73405000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr2:73403400-73404600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:73403400-73404800	Bivalent/Poised TSS	HSMM	muscle
32	chr2:73403600-73404800	Bivalent Enhancer	Fetal Heart	heart
33	chr2:73403600-73405000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:73403800-73404600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
35	chr2:73403800-73404600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr2:73403800-73404800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr2:73404000-73404600	Active TSS	Left Ventricle	heart
44	chr2:73404000-73404600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
45	chr2:73404000-73404800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:73404000-73404800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:73404000-73404800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr2:73404000-73404800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr2:73404000-73405000	Flanking Active TSS	HMEC	breast
50	chr2:73404200-73404600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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