Variant report

Variant	rs930395
Chromosome Location	chr5:44822458-44822459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:44822335-44822660	K562	blood:	n/a	n/a
2	POLR2A	chr5:44816755-44823176	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:44822351-44823145	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:44816719-44823248	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
2	chr5:44808765..44814014-chr5:44819023..44823010,7	MCF-7	breast:
3	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
4	chr5:44821717..44824511-chr5:44825492..44828126,3	K562	blood:
5	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272335	TF binding region
ENSG00000251141	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000272335	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10038562	0.81[ASN][1000 genomes]
rs10072025	0.81[ASN][1000 genomes]
rs10072259	0.81[ASN][1000 genomes]
rs10462080	0.82[ASN][1000 genomes]
rs10462083	0.82[ASN][1000 genomes]
rs11741772	0.82[ASN][1000 genomes]
rs11746506	0.82[ASN][1000 genomes]
rs12188871	0.82[ASN][1000 genomes]
rs12518851	0.81[ASN][1000 genomes]
rs12651949	0.82[ASN][1000 genomes]
rs12652026	0.82[ASN][1000 genomes]
rs13154781	0.81[ASN][1000 genomes]
rs13155698	0.81[ASN][1000 genomes]
rs13183209	0.82[ASN][1000 genomes]
rs13185174	0.81[ASN][1000 genomes]
rs13189120	0.82[ASN][1000 genomes]
rs1371024	0.80[ASN][1000 genomes]
rs1371025	0.81[ASN][1000 genomes]
rs1438819	0.82[ASN][1000 genomes]
rs1438827	0.80[ASN][1000 genomes]
rs16901963	0.81[ASN][1000 genomes]
rs16901990	0.81[ASN][1000 genomes]
rs1866406	0.82[ASN][1000 genomes]
rs2083243	0.81[ASN][1000 genomes]
rs2165008	0.82[ASN][1000 genomes]
rs2330619	0.82[ASN][1000 genomes]
rs2330620	0.81[ASN][1000 genomes]
rs3747479	0.82[ASN][1000 genomes]
rs3761648	0.82[ASN][1000 genomes]
rs3761649	0.82[ASN][1000 genomes]
rs3761650	0.82[ASN][1000 genomes]
rs4457089	0.82[ASN][1000 genomes]
rs4596389	0.81[ASN][1000 genomes]
rs6451772	0.81[ASN][1000 genomes]
rs6451774	0.82[ASN][1000 genomes]
rs6451775	0.81[ASN][1000 genomes]
rs67274820	0.81[ASN][1000 genomes]
rs6859157	0.81[ASN][1000 genomes]
rs6875933	0.81[ASN][1000 genomes]
rs727304	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs729599	0.81[ASN][1000 genomes]
rs7710952	0.81[ASN][1000 genomes]
rs7710978	0.81[ASN][1000 genomes]
rs7715731	0.81[ASN][1000 genomes]
rs7716600	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717459	0.82[ASN][1000 genomes]
rs9637783	0.82[ASN][1000 genomes]
rs9637796	0.82[ASN][1000 genomes]
rs9637797	0.82[ASN][1000 genomes]
rs969679	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv880838	chr5:44805926-44836788	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv881498	chr5:44805926-44842260	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44810000-44828000	Weak transcription	Gastric	stomach
2	chr5:44810000-44839000	Weak transcription	Pancreas	Pancrea
3	chr5:44810200-44837600	Weak transcription	Esophagus	oesophagus
4	chr5:44810800-44822800	Weak transcription	Thymus	Thymus
5	chr5:44810800-44828000	Weak transcription	Right Ventricle	heart
6	chr5:44810800-44829400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:44810800-44832200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:44810800-44833000	Weak transcription	Psoas Muscle	Psoas
9	chr5:44810800-44835800	Weak transcription	Aorta	Aorta
10	chr5:44811000-44823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:44811000-44829400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:44811200-44823000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:44811200-44835400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:44811400-44823000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:44811400-44838400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:44811600-44822800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:44811600-44823200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:44811800-44822800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:44811800-44823000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:44811800-44823000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:44811800-44823200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:44811800-44823400	Strong transcription	Primary B cells from cord blood	blood
23	chr5:44811800-44823600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:44811800-44824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:44811800-44824600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:44812000-44824600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:44812200-44822800	Strong transcription	A549	lung
28	chr5:44812200-44824600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:44812400-44822600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:44812400-44823200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:44812400-44825800	Weak transcription	Fetal Brain Male	brain
32	chr5:44813400-44822600	Strong transcription	Dnd41	blood
33	chr5:44813800-44824600	Strong transcription	Hela-S3	cervix
34	chr5:44814200-44825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:44814200-44829400	Weak transcription	Brain Germinal Matrix	brain
36	chr5:44814800-44839200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:44815000-44826200	Weak transcription	Brain Angular Gyrus	brain
38	chr5:44815000-44832800	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:44815400-44823000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:44815400-44826000	Weak transcription	Brain Substantia Nigra	brain
41	chr5:44815400-44830800	Weak transcription	Fetal Heart	heart
42	chr5:44815600-44823800	Weak transcription	NHLF	lung
43	chr5:44815800-44827600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:44816000-44822800	Weak transcription	Fetal Intestine Small	intestine
45	chr5:44816000-44827600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:44816000-44836400	Weak transcription	Ovary	ovary
47	chr5:44816200-44826800	Weak transcription	HUVEC	blood vessel
48	chr5:44816600-44823400	Weak transcription	Lung	lung
49	chr5:44816600-44823800	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:44816600-44826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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