Variant report

Variant	rs9658588
Chromosome Location	chr1:86048659-86048660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:98)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:98 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:86045313-86051202	ProgFib	skin:	n/a	n/a
2	POLR2A	chr1:86041793-86051199	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:86046260-86050835	HepG2	liver:	n/a	n/a
4	TEAD4	chr1:86045890-86051052	ECC-1	luminal epithelium:	n/a	n/a
5	ATF2	chr1:86045932-86051178	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:86048099-86049064	A549	lung:	n/a	n/a
7	CTCF	chr1:86048540-86048690	NHLF	lung:	n/a	n/a
8	JUND	chr1:86046072-86051121	SK-N-SH	brain:	n/a	chr1:86047323-86047335 chr1:86046521-86046530 chr1:86048309-86048318
9	CEBPB	chr1:86048128-86049075	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:86045842-86049091	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr1:86046062-86048820	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr1:86046072-86049245	HUVEC	blood vessel:	n/a	n/a
13	CEBPB	chr1:86048380-86049062	HepG2	liver:	n/a	n/a
14	NFIC	chr1:86045561-86049147	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:86041833-86052222	HUVEC	blood vessel:	n/a	n/a
16	SIN3AK20	chr1:86046022-86049217	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr1:86045933-86048970	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr1:86047729-86049259	A549	lung:	n/a	n/a
19	POLR2A	chr1:86041771-86051250	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:86046076-86049278	Hela-S3	cervix:	n/a	n/a
21	CHD1	chr1:86041753-86052318	IMR90	lung:	n/a	chr1:86046866-86046876 chr1:86046027-86046037 chr1:86044526-86044536
22	MAX	chr1:86047548-86049045	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr1:86048656-86049104	ECC-1	luminal epithelium:	n/a	n/a
24	SP1	chr1:86046098-86049347	H1-hESC	embryonic stem cell:	n/a	chr1:86047281-86047288 chr1:86046772-86046786 chr1:86046866-86046875
25	POLR2A	chr1:86046113-86049066	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr1:86046115-86050994	A549	lung:	n/a	n/a
27	MAX	chr1:86045774-86049318	Hela-S3	cervix:	n/a	chr1:86046475-86046485
28	PBX3	chr1:86045947-86049151	SK-N-SH	brain:	n/a	chr1:86046309-86046329
29	POLR2A	chr1:86041854-86051160	PANC-1	pancreas:	n/a	n/a
30	JUND	chr1:86048380-86048803	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:86048502-86048860	Gliobla	brain:	n/a	n/a
32	RAD21	chr1:86048007-86048678	A549	lung:	n/a	n/a
33	POLR2A	chr1:86041016-86051875	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr1:86045681-86049269	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:86048645-86048739	Lung_OC	lung:	n/a	n/a
36	CEBPB	chr1:86048518-86049213	A549	lung:	n/a	n/a
37	POLR2A	chr1:86046152-86049344	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:86046007-86048958	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr1:86045361-86051797	MCF10A-Er-Src	breast:	n/a	n/a
40	CHD2	chr1:86046103-86051168	H1-hESC	embryonic stem cell:	n/a	chr1:86046866-86046876
41	FOXM1	chr1:86045947-86048890	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr1:86044532-86052365	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:86045758-86050899	Hela-S3	cervix:	n/a	n/a
44	MAX	chr1:86046018-86049238	ECC-1	luminal epithelium:	n/a	chr1:86046475-86046485
45	CHD1	chr1:86044932-86050997	H1-hESC	embryonic stem cell:	n/a	chr1:86046866-86046876 chr1:86046027-86046037
46	CREB1	chr1:86047485-86048931	H1-hESC	embryonic stem cell:	n/a	n/a
47	HEY1	chr1:86047585-86049022	K562	blood:	n/a	n/a
48	POLR2A	chr1:86045764-86049296	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr1:86048560-86048710	NHEK	skin:	n/a	n/a
50	REST	chr1:86048067-86048839	SK-N-SH	brain:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:86047678..86050164-chr1:86058941..86062209,3	MCF-7	breast:
2	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
3	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
4	chr1:86046915..86048660-chr1:86125105..86127128,2	K562	blood:
5	chr1:85958709..85962572-chr1:86044730..86049172,10	MCF-7	breast:
6	chr1:86048046..86050238-chr1:86420456..86423004,2	K562	blood:
7	chr1:85742629..85744835-chr1:86047474..86050446,2	MCF-7	breast:
8	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
9	chr1:86048055..86050244-chr1:86170828..86173299,2	MCF-7	breast:
10	chr1:85773754..85774445-chr1:86047892..86048786,3	MCF-7	breast:
11	chr1:85717103..85719849-chr1:86048181..86049791,2	K562	blood:
12	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:
13	chr1:85739753..85743262-chr1:86045535..86049012,3	K562	blood:
14	chr1:86043937..86050216-chr1:86058297..86066765,12	K562	blood:
15	chr1:85739584..85746681-chr1:86042287..86049012,10	K562	blood:
16	chr1:86048276..86051402-chr1:86117655..86121071,4	K562	blood:

No data

Variant related genes	Relation type
DDAH1	TF binding region
ENSG00000272691	TF binding region
ENSG00000230285	Chromatin interaction
ENSG00000142867	Chromatin interaction
ENSG00000199934	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000117174	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12126355	1.00[ASW][hapmap]
rs17127887	0.92[ASN][1000 genomes]
rs17127897	0.92[ASN][1000 genomes]
rs17127904	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17127916	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17127933	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17127949	0.91[ASN][1000 genomes]
rs17127978	1.00[AFR][1000 genomes]
rs17127983	1.00[AFR][1000 genomes]
rs17127986	1.00[AFR][1000 genomes]
rs17127994	1.00[AFR][1000 genomes]
rs17128015	1.00[AFR][1000 genomes]
rs17128025	1.00[AFR][1000 genomes]
rs17128031	1.00[AFR][1000 genomes]
rs17128078	1.00[CHB][hapmap]
rs17128098	1.00[AFR][1000 genomes]
rs17128165	1.00[AFR][1000 genomes]
rs17128173	1.00[AFR][1000 genomes]
rs17128176	1.00[AFR][1000 genomes]
rs17128216	1.00[AFR][1000 genomes]
rs17128220	1.00[AFR][1000 genomes]
rs17128234	1.00[AFR][1000 genomes]
rs17128240	1.00[AFR][1000 genomes]
rs17128242	1.00[AFR][1000 genomes]
rs17128243	1.00[AFR][1000 genomes]
rs17128249	1.00[AFR][1000 genomes]
rs17128271	1.00[AFR][1000 genomes]
rs17128273	1.00[AFR][1000 genomes]
rs17128279	1.00[AFR][1000 genomes]
rs17128284	1.00[AFR][1000 genomes]
rs17128287	1.00[AFR][1000 genomes]
rs17128302	1.00[AFR][1000 genomes]
rs6672587	1.00[AFR][1000 genomes]
rs7512713	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7519002	1.00[ASN][1000 genomes]
rs9324150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9658592	1.00[AFR][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	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86045400-86048800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:86046600-86049000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:86046600-86049000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:86046600-86049000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86046600-86049200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:86046600-86049200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr1:86046600-86049200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
8	chr1:86046600-86049400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:86046600-86049600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:86046600-86049600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr1:86046600-86049800	Transcr. at gene 5' and 3'	NHLF	lung
12	chr1:86046800-86049000	Transcr. at gene 5' and 3'	Fetal Lung	lung
13	chr1:86046800-86049200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
14	chr1:86046800-86049200	Transcr. at gene 5' and 3'	NHEK	skin
15	chr1:86046800-86049600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr1:86046800-86049800	Transcr. at gene 5' and 3'	Osteobl	bone
17	chr1:86047000-86048800	Active TSS	Colonic Mucosa	Colon
18	chr1:86047000-86049000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
19	chr1:86047000-86049600	Transcr. at gene 5' and 3'	HMEC	breast
20	chr1:86047200-86049000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
21	chr1:86047200-86049000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:86047200-86049000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
23	chr1:86047200-86049200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
24	chr1:86047200-86049200	Transcr. at gene 5' and 3'	HSMMtube	muscle
25	chr1:86047200-86049600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:86047200-86049600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:86047200-86049600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
28	chr1:86047200-86049800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
29	chr1:86047200-86049800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
30	chr1:86047200-86049800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:86047200-86049800	Transcr. at gene 5' and 3'	NH-A	brain
32	chr1:86047200-86050000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
33	chr1:86047200-86050000	Transcr. at gene 5' and 3'	A549	lung
34	chr1:86047400-86049000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:86047400-86049200	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr1:86047400-86049400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:86047400-86049600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
38	chr1:86047400-86049800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:86047400-86049800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr1:86047600-86048800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:86047600-86048800	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:86047600-86048800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:86047600-86048800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:86047600-86048800	Active TSS	Brain Anterior Caudate	brain
45	chr1:86047600-86048800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
46	chr1:86047600-86048800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
47	chr1:86047600-86049000	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:86047600-86049000	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
49	chr1:86047600-86049000	Transcr. at gene 5' and 3'	Left Ventricle	heart
50	chr1:86047600-86049200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle

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