Variant report

Variant	rs9658583
Chromosome Location	chr1:86046087-86046088
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:86045705-86047615	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr1:86045710-86047578	Hela-S3	cervix:	n/a	chr1:86047350-86047360 chr1:86045792-86045801
3	POLR2A	chr1:86045313-86051202	ProgFib	skin:	n/a	n/a
4	POLR2A	chr1:86041793-86051199	HUVEC	blood vessel:	n/a	n/a
5	TEAD4	chr1:86045890-86051052	ECC-1	luminal epithelium:	n/a	n/a
6	SMC3	chr1:86045729-86047898	Hela-S3	cervix:	n/a	n/a
7	ATF2	chr1:86045932-86051178	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr1:86046077-86047273	H1-hESC	embryonic stem cell:	n/a	chr1:86046475-86046485
9	TEAD4	chr1:86045953-86047678	SK-N-SH	brain:	n/a	n/a
10	JUND	chr1:86046072-86051121	SK-N-SH	brain:	n/a	chr1:86047323-86047335 chr1:86046521-86046530 chr1:86048309-86048318
11	REST	chr1:86045904-86047373	PANC-1	pancreas:	n/a	chr1:86046314-86046324
12	TAF1	chr1:86045685-86048404	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr1:86045223-86048449	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:86045842-86049091	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr1:86046062-86048820	ECC-1	luminal epithelium:	n/a	n/a
16	TEAD4	chr1:86045981-86046722	HCT-116	colon:	n/a	n/a
17	POLR2A	chr1:86046072-86049245	HUVEC	blood vessel:	n/a	n/a
18	NFIC	chr1:86045561-86049147	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr1:86045919-86047354	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr1:86041833-86052222	HUVEC	blood vessel:	n/a	n/a
21	TEAD4	chr1:86045904-86046758	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:86045850-86047554	Hela-S3	cervix:	n/a	chr1:86046866-86046876 chr1:86046027-86046037
23	MYC	chr1:86045886-86047264	K562	blood:	n/a	chr1:86046475-86046485
24	EP300	chr1:86046038-86046681	H1-hESC	embryonic stem cell:	n/a	chr1:86046457-86046473
25	SIN3AK20	chr1:86046022-86049217	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr1:86045965-86047403	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr1:86046073-86046584	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF12	chr1:86045933-86048970	ECC-1	luminal epithelium:	n/a	n/a
29	BCL3	chr1:86046017-86046602	A549	lung:	n/a	chr1:86046577-86046590 chr1:86046524-86046537 chr1:86046482-86046491
30	NR2F2	chr1:86046062-86046508	K562	blood:	n/a	n/a
31	E2F6	chr1:86046056-86047284	K562	blood:	n/a	chr1:86046524-86046533 chr1:86046431-86046441 chr1:86046564-86046573
32	POLR2A	chr1:86041771-86051250	HUVEC	blood vessel:	n/a	n/a
33	GATA3	chr1:86045616-86047524	A549	lung:	n/a	chr1:86046062-86046071
34	TEAD4	chr1:86045925-86046595	K562	blood:	n/a	n/a
35	POLR2A	chr1:86046076-86049278	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:86046027-86047507	PFSK-1	brain:	n/a	n/a
37	CHD1	chr1:86041753-86052318	IMR90	lung:	n/a	chr1:86046866-86046876 chr1:86046027-86046037 chr1:86044526-86044536
38	SMARCC1	chr1:86045796-86047730	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr1:86045732-86046388	MCF10A-Er-Src	breast:	n/a	chr1:86045971-86045979
40	GATA2	chr1:86046055-86046723	HUVEC	blood vessel:	n/a	chr1:86046062-86046071
41	MXI1	chr1:86045681-86047893	Hela-S3	cervix:	n/a	n/a
42	FOXP2	chr1:86046039-86046811	PFSK-1	brain:	n/a	n/a
43	FOS	chr1:86045685-86046405	MCF10A-Er-Src	breast:	n/a	chr1:86045813-86045824
44	MAX	chr1:86045774-86049318	Hela-S3	cervix:	n/a	chr1:86046475-86046485
45	CTCF	chr1:86046079-86047526	HCT-116	colon:	n/a	n/a
46	ZBTB7A	chr1:86045722-86047551	ECC-1	luminal epithelium:	n/a	n/a
47	NFIC	chr1:86045993-86046789	SK-N-SH	brain:	n/a	n/a
48	PBX3	chr1:86045947-86049151	SK-N-SH	brain:	n/a	chr1:86046309-86046329
49	POLR2A	chr1:86041854-86051160	PANC-1	pancreas:	n/a	n/a
50	FOXM1	chr1:86046001-86047833	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:86044508..86046201-chr1:86070309..86072884,2	K562	blood:
2	chr1:86046008..86048463-chr1:86063364..86065472,5	MCF-7	breast:
3	chr1:86046059..86047966-chr1:86055986..86059242,3	MCF-7	breast:
4	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
5	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
6	chr1:85930091..85932037-chr1:86045511..86048058,4	MCF-7	breast:
7	chr1:85929622..85931400-chr1:86044914..86046491,2	MCF-7	breast:
8	chr1:86045884..86046584-chr7:21984850..21985841,2	Hela-S3	cervix:
9	chr1:86045777..86046557-chr3:171757245..171757867,2	Hela-S3	cervix:
10	chr1:85958709..85962572-chr1:86044730..86049172,10	MCF-7	breast:
11	chr1:86046054..86046697-chr5:131825999..131826995,2	Hela-S3	cervix:
12	chr1:85959814..85963220-chr1:86043447..86048399,5	MCF-7	breast:
13	chr1:86046006..86046840-chr2:47403145..47403893,2	HCT-116	colon:
14	chr1:85739753..85743262-chr1:86045535..86049012,3	K562	blood:
15	chr1:86043937..86050216-chr1:86058297..86066765,12	K562	blood:
16	chr1:85739584..85746681-chr1:86042287..86049012,10	K562	blood:

Variant related genes	Relation type
DDAH1	TF binding region
CYR61	TF binding region
ENSG00000272691	TF binding region
ENSG00000142867	Chromatin interaction
ENSG00000199934	Chromatin interaction
ENSG00000075420	Chromatin interaction
ENSG00000117174	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000164649	Chromatin interaction
ENSG00000125347	Chromatin interaction
ENSG00000230285	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10157660	1.00[AMR][1000 genomes]
rs10157673	1.00[AMR][1000 genomes]
rs10157681	1.00[AMR][1000 genomes]
rs10158005	1.00[AMR][1000 genomes]
rs10158350	1.00[AMR][1000 genomes]
rs56809993	1.00[AMR][1000 genomes]
rs59850265	0.93[AFR][1000 genomes]
rs61146829	0.87[AFR][1000 genomes]
rs61370276	1.00[AMR][1000 genomes]
rs7512436	1.00[AMR][1000 genomes]
rs7514928	1.00[AMR][1000 genomes]
rs7519002	1.00[AMR][1000 genomes]
rs9324149	1.00[AMR][1000 genomes]
rs9324150	1.00[AMR][1000 genomes]
rs9658594	1.00[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86041800-86047800	Active TSS	Aorta	Aorta
2	chr1:86043000-86046600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:86044600-86046200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:86044600-86046200	Flanking Active TSS	Osteobl	bone
5	chr1:86045000-86047200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:86045200-86046200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:86045200-86046200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr1:86045200-86046200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:86045200-86046200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:86045200-86046600	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr1:86045200-86047000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:86045200-86047400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:86045200-86047600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:86045200-86047600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:86045200-86048600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:86045400-86046400	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr1:86045400-86046600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:86045400-86046600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr1:86045400-86046600	Active TSS	Esophagus	oesophagus
20	chr1:86045400-86046600	Active TSS	NHLF	lung
21	chr1:86045400-86046800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:86045400-86047200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:86045400-86047200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:86045400-86047200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:86045400-86047200	Active TSS	A549	lung
26	chr1:86045400-86047200	Active TSS	HSMMtube	muscle
27	chr1:86045400-86047200	Active TSS	NH-A	brain
28	chr1:86045400-86047200	Active TSS	NHDF-Ad	bronchial
29	chr1:86045400-86047600	Active TSS	Colon Smooth Muscle	Colon
30	chr1:86045400-86047800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:86045400-86047800	Active TSS	Ovary	ovary
32	chr1:86045400-86048000	Active TSS	Rectal Smooth Muscle	rectum
33	chr1:86045400-86048600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:86045400-86048800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:86045600-86046200	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr1:86045600-86046600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:86045600-86046600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:86045600-86046600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:86045600-86046600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:86045600-86046600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:86045600-86046600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:86045600-86046600	Active TSS	HUVEC	blood vessel
43	chr1:86045600-86046800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:86045600-86047000	Active TSS	HMEC	breast
45	chr1:86045600-86047200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr1:86045600-86047200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:86045600-86047400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:86045600-86047400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:86045600-86047400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:86045600-86047400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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