Variant report

Variant	rs62391735
Chromosome Location	chr5:126116445-126116446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:126115868-126116520	K562	blood:	n/a	n/a
2	CTCF	chr5:126116440-126116590	HVMF	connective:	n/a	n/a
3	CTCF	chr5:126115866-126116511	IMR90	lung:	n/a	n/a
4	CTCF	chr5:126115700-126116524	HCT-116	colon:	n/a	n/a
5	CTCF	chr5:126115706-126116986	A549	lung:	n/a	n/a
6	NFATC1	chr5:126115780-126116539	GM12878	blood:	n/a	n/a
7	CTCF	chr5:126116440-126116590	BE2_C	brain:	n/a	n/a
8	SMC3	chr5:126115827-126116555	GM12878	blood:	n/a	n/a
9	RAD21	chr5:126115795-126116539	HCT-116	colon:	n/a	n/a
10	POLR2A	chr5:126115737-126116516	GM12878	blood:	n/a	n/a
11	CTCF	chr5:126115725-126116828	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr5:126115842-126116509	GM12878	blood:	n/a	n/a
13	RAD21	chr5:126115746-126116567	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr5:126115812-126116448	HCT-116	colon:	n/a	n/a
15	SMC3	chr5:126115579-126116639	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:125877878..125880557-chr5:126115918..126118031,2	MCF-7	breast:
2	chr5:126111234..126115600-chr5:126116361..126125062,16	K562	blood:
3	chr5:125991322..125992730-chr5:126115619..126116664,5	K562	blood:
4	chr5:126011484..126012431-chr5:126115658..126116594,6	K562	blood:
5	chr5:126116007..126118146-chr5:126123068..126125342,2	K562	blood:
6	chr5:125928101..125931036-chr5:126115969..126118451,2	MCF-7	breast:
7	chr5:126021301..126023563-chr5:126114840..126116596,2	MCF-7	breast:
8	chr5:125990916..125992707-chr5:126114445..126117654,3	K562	blood:
9	chr5:126011521..126012359-chr5:126115630..126116587,6	MCF-7	breast:
10	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
11	chr5:126112480..126114366-chr5:126115512..126117384,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251072	TF binding region
ENSG00000164904	Chromatin interaction
ENSG00000252185	Chromatin interaction
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17532839	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598428	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598867	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763156	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3805739	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55656009	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391696	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62391699	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62391701	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391704	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391730	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391731	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391738	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391742	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392862	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6874636	0.90[ASN][1000 genomes]
rs7714589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732759	1.00[AFR][1000 genomes];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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126111600-126116600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:126113000-126117000	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr5:126114600-126116800	Weak transcription	Right Atrium	heart
4	chr5:126114600-126118600	Weak transcription	Gastric	stomach
5	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
7	chr5:126114600-126161600	Weak transcription	Ovary	ovary
8	chr5:126114800-126116800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:126115000-126116600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:126115000-126116600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:126115000-126116600	Enhancers	Fetal Intestine Small	intestine
12	chr5:126115000-126116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:126115000-126116800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
15	chr5:126115200-126116600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:126115200-126116600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:126115200-126118200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:126115200-126122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:126115200-126123600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:126115200-126123600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:126115400-126116600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:126115600-126116600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:126115600-126116600	Flanking Active TSS	Fetal Brain Female	brain
24	chr5:126115800-126116800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:126115800-126116800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:126115800-126137400	Weak transcription	HSMM	muscle
28	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:126116000-126116600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:126116000-126116600	Enhancers	Fetal Thymus	thymus
31	chr5:126116000-126117000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:126116000-126119400	Weak transcription	HMEC	breast
33	chr5:126116000-126123800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
35	chr5:126116200-126116800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:126116200-126116800	Enhancers	Hela-S3	cervix
37	chr5:126116200-126117000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:126116200-126117000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr5:126116200-126117200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:126116200-126117800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:126116200-126117800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:126116400-126116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:126116400-126116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:126116400-126116600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:126116400-126116600	Enhancers	A549	lung
46	chr5:126116400-126116600	Enhancers	HepG2	liver
47	chr5:126116400-126116800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:126116400-126116800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:126116400-126116800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:126116400-126116800	Enhancers	HUVEC	blood vessel

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