Variant report

Variant	rs61684558
Chromosome Location	chr1:150524277-150524278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150522961-150527432	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:150524248-150525195	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:150523206-150526233	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:150523300-150524285	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr1:150523310-150525455	HUVEC	blood vessel:	n/a	n/a
6	TEAD4	chr1:150523811-150525467	K562	blood:	n/a	n/a
7	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
8	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a
9	POLR2A	chr1:150521554-150527416	K562	blood:	n/a	n/a
10	POU2F2	chr1:150524135-150524359	GM12891	blood:	n/a	n/a
11	CBX3	chr1:150523855-150524333	K562	blood:	n/a	n/a
12	POLR2A	chr1:150520920-150525557	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:150523899-150527453	K562	blood:	n/a	n/a
14	POLR2A	chr1:150524197-150524339	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:150521814-150527516	K562	blood:	n/a	n/a
16	ZNF384	chr1:150524184-150524583	K562	blood:	n/a	n/a
17	POLR2A	chr1:150520973-150527524	K562	blood:	n/a	n/a
18	ZNF263	chr1:150523889-150524804	HEK293-T-REx	kidney:	n/a	chr1:150524434-150524443
19	NR2F2	chr1:150524179-150525217	K562	blood:	n/a	n/a
20	POLR2A	chr1:150522895-150525427	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:150521033-150525464	K562	blood:	n/a	n/a
22	POLR2A	chr1:150523838-150524421	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150523106..150526873-chr1:150601148..150603781,4	K562	blood:
2	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
3	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
4	chr1:150479471..150482388-chr1:150523973..150526628,2	K562	blood:
5	chr1:150335977..150337917-chr1:150522488..150525265,2	MCF-7	breast:
6	chr1:150335627..150337411-chr1:150523310..150524923,2	K562	blood:
7	chr1:150458473..150461317-chr1:150523404..150525508,2	MCF-7	breast:
8	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
9	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL4	TF binding region
MIR4257	TF binding region
ENSG00000143374	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58585637	0.81[ASN][1000 genomes]
rs6657478	0.81[ASN][1000 genomes]
rs6663989	1.00[ASN][1000 genomes]
rs7514515	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 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	chr1:150521400-150524400	Weak transcription	Fetal Kidney	kidney
2	chr1:150521400-150524600	Enhancers	Spleen	Spleen
3	chr1:150521600-150524800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:150521600-150525600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:150521600-150532600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:150522000-150524600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:150522000-150526400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:150522200-150524600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:150522200-150524600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:150522200-150524600	Weak transcription	Gastric	stomach
11	chr1:150522200-150525200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:150522200-150525400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:150522400-150524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:150522400-150524600	Weak transcription	Fetal Heart	heart
15	chr1:150522400-150524600	Weak transcription	NH-A	brain
16	chr1:150522400-150525400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:150522400-150526000	Enhancers	Brain Hippocampus Middle	brain
18	chr1:150522400-150526000	Enhancers	Lung	lung
19	chr1:150522400-150532800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:150522600-150524400	Weak transcription	Small Intestine	intestine
21	chr1:150522600-150524400	Weak transcription	NHEK	skin
22	chr1:150522600-150524600	Weak transcription	HMEC	breast
23	chr1:150522600-150524800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:150522600-150525400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:150522600-150525800	Enhancers	A549	lung
26	chr1:150522600-150526000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:150522600-150526200	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:150522600-150530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:150522600-150531200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:150522600-150532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:150522800-150524800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:150522800-150525000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:150522800-150525000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:150522800-150525600	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:150522800-150526000	Enhancers	Fetal Lung	lung
36	chr1:150522800-150526200	Enhancers	Primary B cells from cord blood	blood
37	chr1:150522800-150526200	Enhancers	Liver	Liver
38	chr1:150522800-150526400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:150522800-150526600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:150522800-150527200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:150522800-150527400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:150522800-150528000	Weak transcription	Aorta	Aorta
43	chr1:150522800-150532200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:150523000-150524800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:150523000-150525600	Transcr. at gene 5' and 3'	K562	blood
46	chr1:150523000-150525800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:150523000-150526400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:150523200-150524400	Enhancers	Fetal Muscle Leg	muscle
49	chr1:150523200-150524600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:150523200-150524600	Enhancers	Muscle Satellite Cultured Cells	--

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