Variant report

Variant	rs10788810
Chromosome Location	chr1:151813791-151813792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
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	KAP1	chr1:151813725-151813995	U2OS	brain:	n/a	n/a
2	MYC	chr1:151813777-151813962	HUVEC	blood vessel:	n/a	n/a
3	FOSL2	chr1:151813711-151814005	HepG2	liver:	n/a	n/a
4	FOS	chr1:151813755-151813936	MCF10A-Er-Src	breast:	n/a	chr1:151813817-151813828
5	FOS	chr1:151813636-151814163	HUVEC	blood vessel:	n/a	chr1:151813817-151813828
6	POLR2A	chr1:151810965-151813837	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXA1	chr1:151813599-151813958	HepG2	liver:	n/a	n/a
8	FOS	chr1:151813690-151813955	MCF10A-Er-Src	breast:	n/a	chr1:151813817-151813828
9	TCF7L2	chr1:151813789-151813929	Hela-S3	cervix:	n/a	n/a
10	FOS	chr1:151813685-151814002	MCF10A-Er-Src	breast:	n/a	chr1:151813817-151813828
11	TCF12	chr1:151813558-151814178	SK-N-SH	brain:	n/a	n/a
12	MAFK	chr1:151813778-151813931	HepG2	liver:	n/a	chr1:151813819-151813829
13	FOS	chr1:151813752-151813933	MCF10A-Er-Src	breast:	n/a	chr1:151813817-151813828
14	MYC	chr1:151813734-151813971	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:151813524-151814049	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151813779-151813829	HCPEpiC	choroid plexus:	n/a
2	chr1:151813779-151813829	HEEpiC	esophagus:	n/a
3	chr1:151813779-151813829	Caco-2	colon:	n/a
4	chr1:151813779-151813829	HCF	heart:	n/a
5	chr1:151813779-151813829	SK-N-MC	brain:	n/a
6	chr1:151813779-151813829	HAEpiC	amniotic membrane:	n/a
7	chr1:151813779-151813829	AG04449	skin:	fetal
8	chr1:151813779-151813829	SKMC	muscle:	n/a
9	chr1:151813779-151813829	AG09309	skin:	n/a
10	chr1:151813779-151813829	HUVEC	blood vessel:	n/a
11	chr1:151813779-151813829	HRPEpiC	eye:	n/a
12	chr1:151813779-151813829	GM06990	blood:	n/a
13	chr1:151813779-151813829	NHBE	bronchial:	n/a
14	chr1:151813779-151813829	PrEC	prostate:	n/a
15	chr1:151813779-151813829	SK-N-SH	brain:	n/a
16	chr1:151813779-151813829	T-47D	breast:	n/a
17	chr1:151813779-151813829	MCF10A-Er-Src	breast:	n/a
18	chr1:151813779-151813829	GM19239	blood:	n/a
19	chr1:151813779-151813829	ECC-1	luminal epithelium:	n/a
20	chr1:151813779-151813829	CMK	blood:	n/a
21	chr1:151813779-151813829	SAEC	small airway:	n/a
22	chr1:151813779-151813829	HRE	kidney:	n/a
23	chr1:151813779-151813829	SK-N-SH_RA	brain:	n/a
24	chr1:151813779-151813829	NH-A	brain:	n/a
25	chr1:151813779-151813829	HL-60	blood:	n/a
26	chr1:151813779-151813829	AG10803	skin:	n/a
27	chr1:151813779-151813829	Hela-S3	cervix:	n/a
28	chr1:151813779-151813829	MCF-7	breast:	n/a
29	chr1:151813779-151813829	PFSK-1	brain:	n/a
30	chr1:151813779-151813829	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:151813779-151813829	U87	brain:	n/a
32	chr1:151813779-151813829	AG09319	gingival:	n/a
33	chr1:151813779-151813829	GM12892	blood:	n/a
34	chr1:151813779-151813829	RPTEC	kidney:	n/a
35	chr1:151813779-151813829	Jurkat	blood:	n/a
36	chr1:151813779-151813829	HRCEpiC	kidney:	n/a
37	chr1:151813779-151813829	NHDF-neo	bronchial:	n/a
38	chr1:151813779-151813829	IMR90	lung:	fetal
39	chr1:151813779-151813829	HNPCEpiC	eye:	n/a
40	chr1:151813779-151813829	GM12891	blood:	n/a
41	chr1:151813779-151813829	A549	lung:	n/a
42	chr1:151813779-151813829	LNCaP	prostate:	n/a
43	chr1:151813779-151813829	GM12878	blood:	n/a
44	chr1:151813779-151813829	NB4	blood:	n/a
45	chr1:151813779-151813829	Hepatocyte	liver:	n/a
46	chr1:151813779-151813829	AoSMC	blood vessel:	n/a
47	chr1:151813779-151813829	BE2_C	brain:	n/a
48	chr1:151813779-151813829	K562	blood:	n/a
49	chr1:151813779-151813829	HEK293	kidney:	embryo
50	chr1:151813779-151813829	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
2	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
3	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
4	chr1:151797661..151799547-chr1:151812000..151814982,2	MCF-7	breast:
5	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
6	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
7	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
8	chr1:151812161..151813920-chr1:152008098..152012154,3	MCF-7	breast:
9	chr1:151812887..151815507-chr1:151862226..151864970,2	MCF-7	breast:
10	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
11	chr1:151737837..151739955-chr1:151812642..151814916,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
C2CD4D	TF binding region
ENSG00000234614	CpG island
C2CD4D	CpG island
ENSG00000159445	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000268288	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10888438	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10888439	0.81[ASN][1000 genomes]
rs12029913	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122596	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2130529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6587622	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6667460	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7551686	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7551806	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151810000-151818800	Weak transcription	A549	lung
2	chr1:151811600-151814000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:151812200-151813800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:151812200-151814600	Enhancers	HUVEC	blood vessel
5	chr1:151812400-151814000	Enhancers	Hela-S3	cervix
6	chr1:151812600-151814600	Enhancers	NH-A	brain
7	chr1:151812800-151814000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:151812800-151814000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:151812800-151814200	Enhancers	HSMM	muscle
10	chr1:151812800-151820600	Weak transcription	Right Atrium	heart
11	chr1:151813000-151814000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:151813000-151814000	Enhancers	HepG2	liver
13	chr1:151813000-151814200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:151813000-151814400	Enhancers	HSMMtube	muscle
15	chr1:151813000-151814600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:151813000-151814800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:151813200-151813800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr1:151813200-151813800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:151813200-151813800	Enhancers	NHEK	skin
20	chr1:151813200-151814000	Enhancers	Brain Anterior Caudate	brain
21	chr1:151813200-151814200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr1:151813200-151814200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:151813200-151814200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:151813200-151814400	Enhancers	Brain Hippocampus Middle	brain
25	chr1:151813200-151814400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:151813200-151814400	Enhancers	HMEC	breast
27	chr1:151813200-151814600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:151813200-151814600	Enhancers	Osteobl	bone
29	chr1:151813200-151814800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:151813200-151818800	Weak transcription	Placenta	Placenta
31	chr1:151813200-151818800	Weak transcription	Gastric	stomach
32	chr1:151813200-151819000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:151813400-151813800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr1:151813400-151814000	Enhancers	Brain Angular Gyrus	brain
35	chr1:151813400-151814000	Enhancers	Brain Substantia Nigra	brain
36	chr1:151813400-151814200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:151813400-151814400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:151813400-151814400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:151813400-151815200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:151813400-151818400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:151813400-151818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:151813400-151818600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:151813400-151818600	Weak transcription	Pancreas	Pancrea
44	chr1:151813400-151818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:151813400-151819000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:151813400-151819000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:151813400-151821200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:151813400-151828600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:151813600-151814000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:151813600-151814400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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