Variant report

Variant	rs2234768
Chromosome Location	chr10:90749943-90749944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:90749843-90751568	U87	brain:	n/a	n/a
2	TEAD4	chr10:90749355-90751985	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF143	chr10:90749853-90750683	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:90749915-90751407	HL-60	blood:	n/a	n/a
5	BCLAF1	chr10:90749862-90751946	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:90749855-90752124	GM15510	blood:	n/a	n/a
7	RELA	chr10:90749476-90750698	GM10847	blood:	n/a	n/a
8	TCF12	chr10:90749835-90750897	A549	lung:	n/a	chr10:90750157-90750167
9	POLR2A	chr10:90749926-90751974	GM12891	blood:	n/a	n/a
10	CEBPB	chr10:90749420-90750737	GM12878	blood:	n/a	chr10:90749915-90749926
11	POLR2A	chr10:90749854-90751934	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr10:90749866-90751970	GM12878	blood:	n/a	n/a
13	PML	chr10:90749912-90752008	GM12878	blood:	n/a	n/a
14	TCF12	chr10:90749391-90751818	ECC-1	luminal epithelium:	n/a	chr10:90750157-90750167
15	POLR2A	chr10:90749872-90752061	GM12892	blood:	n/a	n/a
16	CEBPB	chr10:90749654-90750974	A549	lung:	n/a	chr10:90749915-90749926
17	MXI1	chr10:90749572-90751342	Hela-S3	cervix:	n/a	n/a
18	MAX	chr10:90749410-90751872	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr10:90749801-90752335	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:90749923-90752668	GM12878	blood:	n/a	n/a
21	CEBPB	chr10:90749496-90751276	IMR90	lung:	n/a	chr10:90749915-90749926
22	SMARCB1	chr10:90749936-90751664	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:90749839-90751807	Hela-S3	cervix:	n/a	n/a
24	MAX	chr10:90749576-90751963	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:90749923-90752114	GM12892	blood:	n/a	n/a
26	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr10:90749243-90752016	ECC-1	luminal epithelium:	n/a	n/a
28	GATA2	chr10:90749476-90750125	HUVEC	blood vessel:	n/a	chr10:90749799-90749809
29	ZBTB7A	chr10:90749920-90751398	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr10:90749871-90750734	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr10:90749936-90752305	GM12892	blood:	n/a	n/a
32	POLR2A	chr10:90749941-90751916	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr10:90749835-90751723	HepG2	liver:	n/a	n/a
34	JUN	chr10:90749520-90749967	HUVEC	blood vessel:	n/a	chr10:90749631-90749640 chr10:90749627-90749640
35	TCF12	chr10:90749099-90751740	ECC-1	luminal epithelium:	n/a	chr10:90750157-90750167
36	MAX	chr10:90749691-90752008	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr10:90749763-90750822	HepG2	liver:	n/a	chr10:90749915-90749926
38	NFIC	chr10:90749884-90750667	GM12878	blood:	n/a	n/a
39	SMARCC1	chr10:90749457-90751969	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr10:90749774-90751767	ECC-1	luminal epithelium:	n/a	n/a
41	RCOR1	chr10:90749495-90752001	Hela-S3	cervix:	n/a	n/a
42	RELA	chr10:90749827-90752219	GM12891	blood:	n/a	n/a
43	CHD2	chr10:90749938-90751986	GM12878	blood:	n/a	n/a
44	CEBPB	chr10:90749730-90750792	A549	lung:	n/a	chr10:90749915-90749926
45	POLR2A	chr10:90749856-90751670	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr10:90749737-90750104	K562	blood:	n/a	chr10:90749915-90749926
47	SMC3	chr10:90749382-90751473	Hela-S3	cervix:	n/a	n/a
48	STAT3	chr10:90749700-90750158	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr10:90749694-90751456	ProgFib	skin:	n/a	n/a
50	MAZ	chr10:90749095-90751602	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90749920-90749970	SK-N-MC	brain:	n/a
2	chr10:90749920-90749970	BJ	skin:	n/a
3	chr10:90749920-90749970	Hela-S3	cervix:	n/a
4	chr10:90749920-90749970	CMK	blood:	n/a
5	chr10:90749920-90749970	HCF	heart:	n/a
6	chr10:90749920-90749970	NB4	blood:	n/a
7	chr10:90749920-90749970	ovcar-3	ovarian:	n/a
8	chr10:90749920-90749970	HNPCEpiC	eye:	n/a
9	chr10:90749920-90749970	MCF-7	breast:	n/a
10	chr10:90749920-90749970	Caco-2	colon:	n/a
11	chr10:90749920-90749970	NT2-D1	testis:	n/a
12	chr10:90749920-90749970	HRPEpiC	eye:	n/a
13	chr10:90749920-90749970	SK-N-SH_RA	brain:	n/a
14	chr10:90749920-90749970	HUVEC	blood vessel:	n/a
15	chr10:90749920-90749970	HRCEpiC	kidney:	n/a
16	chr10:90749920-90749970	SAEC	small airway:	n/a
17	chr10:90749920-90749970	BE2_C	brain:	n/a
18	chr10:90749920-90749970	Jurkat	blood:	n/a
19	chr10:90749920-90749970	T-47D	breast:	n/a
20	chr10:90749920-90749970	NHDF-neo	bronchial:	n/a
21	chr10:90749920-90749970	U87	brain:	n/a
22	chr10:90749920-90749970	SKMC	muscle:	n/a
23	chr10:90749920-90749970	AG10803	skin:	n/a
24	chr10:90749920-90749970	HAEpiC	amniotic membrane:	n/a
25	chr10:90749920-90749970	ProgFib	skin:	n/a
26	chr10:90749920-90749970	HPAEpiC	pulmonary alveolar:	n/a
27	chr10:90749920-90749970	AG09309	skin:	n/a
28	chr10:90749920-90749970	HMEC	breast:	n/a
29	chr10:90749920-90749970	NH-A	brain:	n/a
30	chr10:90749920-90749970	AG04449	skin:	fetal
31	chr10:90749920-90749970	HCM	heart:	n/a
32	chr10:90749920-90749970	A549	lung:	n/a
33	chr10:90749920-90749970	PFSK-1	brain:	n/a
34	chr10:90749920-90749970	H1-hESC	embryonic stem cell:	embryo
35	chr10:90749920-90749970	HepG2	liver:	n/a
36	chr10:90749920-90749970	Hepatocyte	liver:	n/a
37	chr10:90749920-90749970	GM06990	blood:	n/a
38	chr10:90749920-90749970	HCT-116	colon:	n/a
39	chr10:90749920-90749970	PrEC	prostate:	n/a
40	chr10:90749920-90749970	HEK293	kidney:	embryo
41	chr10:90749920-90749970	HCPEpiC	choroid plexus:	n/a
42	chr10:90749920-90749970	HL-60	blood:	n/a
43	chr10:90749920-90749970	MCF10A-Er-Src	breast:	n/a
44	chr10:90749920-90749970	AoSMC	blood vessel:	n/a
45	chr10:90749920-90749970	GM12878	blood:	n/a
46	chr10:90749920-90749970	LNCaP	prostate:	n/a
47	chr10:90749920-90749970	SK-N-SH	brain:	n/a
48	chr10:90749920-90749970	IMR90	lung:	fetal
49	chr10:90749920-90749970	AG04450	lung:	fetal
50	chr10:90749920-90749970	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90639301..90642051-chr10:90749823..90751899,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAS	TF binding region
FAS	CpG island
ENSG00000138134	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12411483	1.00[ASN][1000 genomes]
rs12412701	1.00[ASN][1000 genomes]
rs12415680	1.00[ASN][1000 genomes]
rs12416581	1.00[ASN][1000 genomes]
rs2862834	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34462240	1.00[ASN][1000 genomes]
rs34891735	1.00[ASN][1000 genomes]
rs36206197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740281	1.00[ASN][1000 genomes]
rs3758483	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345878	0.81[EUR][1000 genomes]
rs55803311	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079111	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809352	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72810908	1.00[ASN][1000 genomes]
rs7909414	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325604	1.00[ASN][1000 genomes]
rs9658691	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658727	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658757	1.00[ASN][1000 genomes]
rs9658766	1.00[ASN][1000 genomes]
rs9658786	1.00[ASN][1000 genomes]
rs9658788	1.00[ASN][1000 genomes]
rs9658791	1.00[ASN][1000 genomes]
rs983751	0.84[EUR][1000 genomes];1.00[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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 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	chr10:90744200-90750000	Weak transcription	Small Intestine	intestine
2	chr10:90744600-90750000	Weak transcription	Stomach Mucosa	stomach
3	chr10:90745600-90750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:90747000-90750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr10:90747000-90750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr10:90747200-90750000	Enhancers	Primary T cells from cord blood	blood
7	chr10:90747400-90750000	Weak transcription	Fetal Thymus	thymus
8	chr10:90749000-90750400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:90749000-90750600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr10:90749200-90750000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:90749200-90750000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:90749200-90750000	Enhancers	Esophagus	oesophagus
13	chr10:90749200-90750000	Enhancers	Pancreas	Pancrea
14	chr10:90749200-90750000	Enhancers	Psoas Muscle	Psoas
15	chr10:90749200-90750000	Enhancers	Right Ventricle	heart
16	chr10:90749200-90750000	Flanking Active TSS	HepG2	liver
17	chr10:90749200-90750200	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr10:90749200-90750200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:90749200-90750200	Flanking Active TSS	HMEC	breast
20	chr10:90749200-90750400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr10:90749200-90750400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr10:90749200-90750400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr10:90749200-90751200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:90749200-90751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:90749200-90752200	Active TSS	Brain Substantia Nigra	brain
26	chr10:90749400-90750000	Enhancers	Brain Angular Gyrus	brain
27	chr10:90749400-90750000	Weak transcription	Brain Anterior Caudate	brain
28	chr10:90749400-90750000	Weak transcription	Gastric	stomach
29	chr10:90749400-90750000	Weak transcription	Lung	lung
30	chr10:90749400-90750200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:90749400-90750200	Enhancers	Primary B cells from peripheral blood	blood
32	chr10:90749400-90750200	Bivalent/Poised TSS	Fetal Brain Male	brain
33	chr10:90749400-90750200	Enhancers	Spleen	Spleen
34	chr10:90749400-90750400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr10:90749400-90750400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr10:90749400-90750400	Flanking Active TSS	NH-A	brain
37	chr10:90749400-90750800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr10:90749400-90751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:90749400-90752200	Active TSS	Aorta	Aorta
40	chr10:90749400-90753400	Active TSS	Left Ventricle	heart
41	chr10:90749400-90754200	Active TSS	Ovary	ovary
42	chr10:90749600-90750000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr10:90749600-90750000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:90749600-90750000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:90749600-90750000	Active TSS	Colonic Mucosa	Colon
46	chr10:90749600-90750000	Enhancers	Fetal Intestine Small	intestine
47	chr10:90749600-90750000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr10:90749600-90750000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr10:90749600-90750200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:90749600-90750400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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