Variant report

Variant	rs11694240
Chromosome Location	chr2:152148586-152148587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr2:152148275-152149287	PBDE	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152148585-152148635	GM19239	blood:	n/a
2	chr2:152148585-152148635	ECC-1	luminal epithelium:	n/a
3	chr2:152148585-152148635	SK-N-SH_RA	brain:	n/a
4	chr2:152148585-152148635	K562	blood:	n/a
5	chr2:152148585-152148635	HMEC	breast:	n/a
6	chr2:152148585-152148635	MCF-7	breast:	n/a
7	chr2:152148585-152148635	ProgFib	skin:	n/a
8	chr2:152148585-152148635	MCF10A-Er-Src	breast:	n/a
9	chr2:152148585-152148635	AG09319	gingival:	n/a
10	chr2:152148585-152148635	IMR90	lung:	fetal
11	chr2:152148585-152148635	AoSMC	blood vessel:	n/a
12	chr2:152148585-152148635	A549	lung:	n/a
13	chr2:152148585-152148635	T-47D	breast:	n/a
14	chr2:152148585-152148635	HEK293	kidney:	embryo
15	chr2:152148585-152148635	GM12892	blood:	n/a
16	chr2:152148585-152148635	SKMC	muscle:	n/a
17	chr2:152148585-152148635	HCM	heart:	n/a
18	chr2:152148585-152148635	PrEC	prostate:	n/a
19	chr2:152148585-152148635	HIPEpiC	eye:	n/a
20	chr2:152148585-152148635	NHBE	bronchial:	n/a
21	chr2:152148585-152148635	SAEC	small airway:	n/a
22	chr2:152148585-152148635	HRPEpiC	eye:	n/a
23	chr2:152148585-152148635	HAEpiC	amniotic membrane:	n/a
24	chr2:152148585-152148635	ovcar-3	ovarian:	n/a
25	chr2:152148585-152148635	Caco-2	colon:	n/a
26	chr2:152148585-152148635	AG04449	skin:	fetal
27	chr2:152148585-152148635	NT2-D1	testis:	n/a
28	chr2:152148585-152148635	HRE	kidney:	n/a
29	chr2:152148585-152148635	NB4	blood:	n/a
30	chr2:152148585-152148635	HL-60	blood:	n/a
31	chr2:152148585-152148635	HNPCEpiC	eye:	n/a
32	chr2:152148585-152148635	RPTEC	kidney:	n/a
33	chr2:152148585-152148635	HUVEC	blood vessel:	n/a
34	chr2:152148585-152148635	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:152148585-152148635	BJ	skin:	n/a
36	chr2:152148585-152148635	H1-hESC	embryonic stem cell:	embryo
37	chr2:152148585-152148635	HEEpiC	esophagus:	n/a
38	chr2:152148585-152148635	HCF	heart:	n/a
39	chr2:152148585-152148635	U87	brain:	n/a
40	chr2:152148585-152148635	NH-A	brain:	n/a
41	chr2:152148585-152148635	Hepatocyte	liver:	n/a
42	chr2:152148585-152148635	HCT-116	colon:	n/a
43	chr2:152148585-152148635	NHDF-neo	bronchial:	n/a
44	chr2:152148585-152148635	AG04450	lung:	fetal
45	chr2:152148585-152148635	Hela-S3	cervix:	n/a
46	chr2:152148585-152148635	HCPEpiC	choroid plexus:	n/a
47	chr2:152148585-152148635	GM12891	blood:	n/a
48	chr2:152148585-152148635	BE2_C	brain:	n/a
49	chr2:152148585-152148635	LNCaP	prostate:	n/a
50	chr2:152148585-152148635	HRCEpiC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152146753..152148649-chr2:152552733..152554484,2	MCF-7	breast:
2	chr2:152147623..152151846-chr2:152155576..152159756,4	K562	blood:
3	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
4	chr2:152117595..152119182-chr2:152147828..152150131,2	K562	blood:

No data

Variant related genes	Relation type
NMI	TF binding region
NMI	CpG island
ENSG00000184898	Chromatin interaction
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10207595	0.88[EUR][1000 genomes]
rs12622615	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383563	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172341	0.81[EUR][1000 genomes]
rs2113509	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161841	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638170	0.85[EUR][1000 genomes]
rs289830	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289831	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs289834	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs289836	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs289838	0.81[EUR][1000 genomes]
rs289839	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs289840	0.81[EUR][1000 genomes]
rs289882	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs289883	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs289887	0.88[EUR][1000 genomes]
rs289916	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs453226	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55946491	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206702	0.84[EUR][1000 genomes]
rs60381734	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725961	0.84[EUR][1000 genomes]
rs6734376	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744327	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744450	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747930	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
9	esv1793984	chr2:152138749-152154163	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152146800-152153800	Weak transcription	Lung	lung
2	chr2:152147200-152149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:152147200-152149400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:152147200-152149400	Enhancers	K562	blood
5	chr2:152147200-152150400	Weak transcription	Osteobl	bone
6	chr2:152147400-152149200	Weak transcription	Colonic Mucosa	Colon
7	chr2:152147400-152149600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:152147600-152148600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:152147600-152148800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:152147800-152154200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:152148200-152149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:152148200-152149400	Enhancers	Liver	Liver
13	chr2:152148400-152148600	Enhancers	Hela-S3	cervix
14	chr2:152148400-152149400	Enhancers	Adipose Nuclei	Adipose

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