Variant report

Variant	rs10202814
Chromosome Location	chr2:47164968-47164969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:47164880-47165030	HRE	kidney:	n/a	n/a
2	ARID3A	chr2:47164494-47164972	HepG2	liver:	n/a	n/a
3	CTCF	chr2:47164880-47165030	GM12866	blood:	n/a	n/a
4	CTCF	chr2:47164311-47165239	A549	lung:	n/a	n/a
5	CTCF	chr2:47164880-47165030	AG04450	lung:	n/a	n/a
6	CTCF	chr2:47164920-47165070	HCM	heart:	n/a	n/a
7	RAD21	chr2:47164448-47164971	A549	lung:	n/a	n/a
8	CTCF	chr2:47164860-47165010	WI-38	lung:	n/a	n/a
9	CTCF	chr2:47164940-47165090	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:47164940-47165090	GM12871	blood:	n/a	n/a
11	RAD21	chr2:47164524-47165001	HCT-116	colon:	n/a	n/a
12	CTCF	chr2:47164820-47164970	GM12865	blood:	n/a	n/a
13	CTCF	chr2:47164880-47165030	GM12864	blood:	n/a	n/a
14	CTCF	chr2:47164860-47165010	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47164967-47165017	BJ	skin:	n/a
2	chr2:47164967-47165017	AG09319	gingival:	n/a
3	chr2:47164967-47165017	Caco-2	colon:	n/a
4	chr2:47164967-47165017	NT2-D1	testis:	n/a
5	chr2:47164967-47165017	HRE	kidney:	n/a
6	chr2:47164967-47165017	SK-N-SH	brain:	n/a
7	chr2:47164967-47165017	SK-N-MC	brain:	n/a
8	chr2:47164967-47165017	AG04450	lung:	fetal
9	chr2:47164967-47165017	AG04449	skin:	fetal
10	chr2:47164967-47165017	GM06990	blood:	n/a
11	chr2:47164967-47165017	HAEpiC	amniotic membrane:	n/a
12	chr2:47164967-47165017	NB4	blood:	n/a
13	chr2:47164967-47165017	ovcar-3	ovarian:	n/a
14	chr2:47164967-47165017	K562	blood:	n/a
15	chr2:47164967-47165017	ProgFib	skin:	n/a
16	chr2:47164967-47165017	AG10803	skin:	n/a
17	chr2:47164967-47165017	IMR90	lung:	fetal
18	chr2:47164967-47165017	MCF-7	breast:	n/a
19	chr2:47164967-47165017	GM19239	blood:	n/a
20	chr2:47164967-47165017	PrEC	prostate:	n/a
21	chr2:47164967-47165017	LNCaP	prostate:	n/a
22	chr2:47164967-47165017	T-47D	breast:	n/a
23	chr2:47164967-47165017	HL-60	blood:	n/a
24	chr2:47164967-47165017	GM12891	blood:	n/a
25	chr2:47164967-47165017	Hela-S3	cervix:	n/a
26	chr2:47164967-47165017	AoSMC	blood vessel:	n/a
27	chr2:47164967-47165017	RPTEC	kidney:	n/a
28	chr2:47164967-47165017	HMEC	breast:	n/a
29	chr2:47164967-47165017	SK-N-SH_RA	brain:	n/a
30	chr2:47164967-47165017	ECC-1	luminal epithelium:	n/a
31	chr2:47164967-47165017	A549	lung:	n/a
32	chr2:47164967-47165017	PFSK-1	brain:	n/a
33	chr2:47164967-47165017	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:47164967-47165017	SKMC	muscle:	n/a
35	chr2:47164967-47165017	U87	brain:	n/a
36	chr2:47164967-47165017	PANC-1	pancreas:	n/a
37	chr2:47164967-47165017	NH-A	brain:	n/a
38	chr2:47164967-47165017	HNPCEpiC	eye:	n/a
39	chr2:47164967-47165017	BE2_C	brain:	n/a
40	chr2:47164967-47165017	HCPEpiC	choroid plexus:	n/a
41	chr2:47164967-47165017	GM12892	blood:	n/a
42	chr2:47164967-47165017	HepG2	liver:	n/a
43	chr2:47164967-47165017	HUVEC	blood vessel:	n/a
44	chr2:47164967-47165017	HIPEpiC	eye:	n/a
45	chr2:47164967-47165017	MCF10A-Er-Src	breast:	n/a
46	chr2:47164967-47165017	CMK	blood:	n/a
47	chr2:47164967-47165017	Hepatocyte	liver:	n/a
48	chr2:47164967-47165017	HEEpiC	esophagus:	n/a
49	chr2:47164967-47165017	HRCEpiC	kidney:	n/a
50	chr2:47164967-47165017	HEK293	kidney:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47164600..47167090-chr2:47190950..47193614,2	K562	blood:
2	chr2:47163957..47166011-chr2:47167875..47170723,3	K562	blood:
3	chr2:47152234..47154718-chr2:47163994..47166479,3	MCF-7	breast:
4	chr2:47164097..47165002-chr2:47213891..47214776,2	MCF-7	breast:
5	chr2:47142704..47145224-chr2:47163492..47166799,3	K562	blood:

No data

Variant related genes	Relation type
TTC7A	TF binding region
TTC7A	CpG island
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10205749	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12467136	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12479328	0.85[EUR][1000 genomes]
rs13401423	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13404033	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033533	0.81[ASN][1000 genomes]
rs7593181	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9973623	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
2	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
3	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
7	chr2:47153800-47166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:47154000-47166400	Weak transcription	Hela-S3	cervix
9	chr2:47154400-47166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:47155800-47166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:47157200-47166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:47157400-47166600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:47160000-47167200	Weak transcription	Fetal Stomach	stomach
14	chr2:47160600-47166800	Weak transcription	GM12878-XiMat	blood
15	chr2:47161600-47166600	Weak transcription	Primary B cells from cord blood	blood
16	chr2:47161600-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:47161600-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:47161600-47166800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:47162400-47166800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:47163400-47165000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:47163400-47165000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:47163800-47166400	Weak transcription	Osteobl	bone
23	chr2:47164000-47166600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:47164400-47165000	Enhancers	Fetal Thymus	thymus
25	chr2:47164400-47165000	Enhancers	Thymus	Thymus
26	chr2:47164400-47165200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:47164400-47165200	Enhancers	A549	lung
28	chr2:47164400-47165200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:47164400-47165400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:47164400-47166800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:47164600-47165000	Enhancers	Spleen	Spleen
32	chr2:47164600-47165000	Enhancers	HepG2	liver
33	chr2:47164800-47165000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:47164800-47165000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:47164800-47165000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:47164800-47165000	Enhancers	Brain Hippocampus Middle	brain
37	chr2:47164800-47165200	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:47164800-47166000	Enhancers	Primary T helper cells PMA-I stimulated	--

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