Variant report

Variant	rs2234767
Chromosome Location	chr10:90749256-90749257
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr10:90749190-90749579	GM12878	blood:	n/a	n/a
2	EP300	chr10:90749243-90752016	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr10:90749099-90751740	ECC-1	luminal epithelium:	n/a	chr10:90750157-90750167
4	EBF1	chr10:90749187-90749463	GM12878	blood:	n/a	n/a
5	MAZ	chr10:90749095-90751602	IMR90	lung:	n/a	n/a
6	POU2F2	chr10:90749135-90749541	GM12878	blood:	n/a	n/a
7	EBF1	chr10:90749148-90749441	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:90749232-90749290	HepG2	liver:	n/a	n/a
9	BCL11A	chr10:90749212-90749513	GM12878	blood:	n/a	n/a
10	PBX3	chr10:90749216-90749461	GM12878	blood:	n/a	n/a
11	MXI1	chr10:90749137-90752117	IMR90	lung:	n/a	n/a
12	POLR2A	chr10:90749226-90752314	GM12891	blood:	n/a	n/a
13	SPI1	chr10:90749145-90749424	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90749255-90749305	NB4	blood:	n/a
2	chr10:90749255-90749305	GM12878	blood:	n/a
3	chr10:90749255-90749305	SK-N-MC	brain:	n/a
4	chr10:90749255-90749305	AG09309	skin:	n/a
5	chr10:90749255-90749305	GM19239	blood:	n/a
6	chr10:90749255-90749305	HRCEpiC	kidney:	n/a
7	chr10:90749255-90749305	BJ	skin:	n/a
8	chr10:90749255-90749305	HCPEpiC	choroid plexus:	n/a
9	chr10:90749255-90749305	AoSMC	blood vessel:	n/a
10	chr10:90749255-90749305	K562	blood:	n/a
11	chr10:90749255-90749305	H1-hESC	embryonic stem cell:	embryo
12	chr10:90749255-90749305	HCF	heart:	n/a
13	chr10:90749255-90749305	SK-N-SH_RA	brain:	n/a
14	chr10:90749255-90749305	ECC-1	luminal epithelium:	n/a
15	chr10:90749255-90749305	HNPCEpiC	eye:	n/a
16	chr10:90749255-90749305	HL-60	blood:	n/a
17	chr10:90749255-90749305	PFSK-1	brain:	n/a
18	chr10:90749255-90749305	HepG2	liver:	n/a
19	chr10:90749255-90749305	NHBE	bronchial:	n/a
20	chr10:90749255-90749305	AG04449	skin:	fetal
21	chr10:90749255-90749305	AG04450	lung:	fetal
22	chr10:90749255-90749305	MCF10A-Er-Src	breast:	n/a
23	chr10:90749255-90749305	AG10803	skin:	n/a
24	chr10:90749255-90749305	NT2-D1	testis:	n/a
25	chr10:90749255-90749305	Hela-S3	cervix:	n/a
26	chr10:90749255-90749305	IMR90	lung:	fetal
27	chr10:90749255-90749305	LNCaP	prostate:	n/a
28	chr10:90749255-90749305	HEEpiC	esophagus:	n/a
29	chr10:90749255-90749305	GM06990	blood:	n/a
30	chr10:90749255-90749305	ProgFib	skin:	n/a
31	chr10:90749255-90749305	HMEC	breast:	n/a
32	chr10:90749255-90749305	SKMC	muscle:	n/a
33	chr10:90749255-90749305	HIPEpiC	eye:	n/a
34	chr10:90749255-90749305	CMK	blood:	n/a
35	chr10:90749255-90749305	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:90749255-90749305	NH-A	brain:	n/a
37	chr10:90749255-90749305	Caco-2	colon:	n/a
38	chr10:90749255-90749305	PrEC	prostate:	n/a
39	chr10:90749255-90749305	GM12892	blood:	n/a
40	chr10:90749255-90749305	NHDF-neo	bronchial:	n/a
41	chr10:90749255-90749305	MCF-7	breast:	n/a
42	chr10:90749255-90749305	HAEpiC	amniotic membrane:	n/a
43	chr10:90749255-90749305	HRE	kidney:	n/a
44	chr10:90749255-90749305	AG09319	gingival:	n/a
45	chr10:90749255-90749305	BE2_C	brain:	n/a
46	chr10:90749255-90749305	HCT-116	colon:	n/a
47	chr10:90749255-90749305	HUVEC	blood vessel:	n/a
48	chr10:90749255-90749305	SAEC	small airway:	n/a
49	chr10:90749255-90749305	HEK293	kidney:	embryo
50	chr10:90749255-90749305	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
FAS	TF binding region
FAS	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10788624	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10887876	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11202917	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11202922	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159120	0.81[ASN][1000 genomes]
rs2147418	0.81[ASN][1000 genomes]
rs3781204	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4934433	0.84[ASN][1000 genomes]
rs6586160	0.88[ASN][1000 genomes]
rs6586161	0.85[ASN][1000 genomes]
rs7076197	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7097467	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7920305	0.81[ASN][1000 genomes]
rs9325603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9658685	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90735200-90749800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:90739400-90749400	Weak transcription	NHEK	skin
3	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
4	chr10:90741600-90749400	Weak transcription	HSMM	muscle
5	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:90743800-90749600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:90744200-90749600	Weak transcription	Fetal Intestine Small	intestine
8	chr10:90744200-90750000	Weak transcription	Small Intestine	intestine
9	chr10:90744600-90750000	Weak transcription	Stomach Mucosa	stomach
10	chr10:90745000-90749600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:90745600-90750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:90746400-90749800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:90746400-90749800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:90746600-90749600	Enhancers	Liver	Liver
15	chr10:90746600-90749800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr10:90746800-90749800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:90747000-90749600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:90747000-90749800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr10:90747000-90750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:90747000-90750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr10:90747200-90750000	Enhancers	Primary T cells from cord blood	blood
22	chr10:90747400-90750000	Weak transcription	Fetal Thymus	thymus
23	chr10:90747600-90749400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr10:90747600-90749400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:90747600-90749800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:90747600-90749800	Weak transcription	Dnd41	blood
27	chr10:90748400-90749600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:90748600-90749800	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:90748600-90749800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:90748800-90749600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:90748800-90749800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr10:90749000-90749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:90749000-90749400	Enhancers	Adipose Nuclei	Adipose
34	chr10:90749000-90749400	Enhancers	Colonic Mucosa	Colon
35	chr10:90749000-90749600	Enhancers	Primary B cells from cord blood	blood
36	chr10:90749000-90749800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:90749000-90750400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:90749000-90750600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr10:90749200-90749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:90749200-90749400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:90749200-90749400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:90749200-90749400	Enhancers	Aorta	Aorta
43	chr10:90749200-90749400	Enhancers	Brain Anterior Caudate	brain
44	chr10:90749200-90749400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr10:90749200-90749400	Enhancers	Fetal Kidney	kidney
46	chr10:90749200-90749400	Enhancers	Gastric	stomach
47	chr10:90749200-90749400	Flanking Active TSS	Left Ventricle	heart
48	chr10:90749200-90749400	Enhancers	Lung	lung
49	chr10:90749200-90749400	Enhancers	Ovary	ovary
50	chr10:90749200-90749400	Active TSS	Rectal Smooth Muscle	rectum

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