Variant report

Variant	rs17035813
Chromosome Location	chr2:47102173-47102174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47061029..47062708-chr2:47100543..47102533,2	K562	blood:
2	chr2:47099451..47103362-chr2:47166819..47169825,3	MCF-7	breast:
3	chr2:46882814..46885319-chr2:47100708..47102230,2	MCF-7	breast:
4	chr2:47003336..47005670-chr2:47100544..47102399,2	MCF-7	breast:
5	chr2:47099373..47102216-chr2:47142959..47145530,2	K562	blood:
6	chr2:47075084..47076988-chr2:47102023..47103595,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC016722.2.1-1	chr2:47101982-47102328	XLOC_001460

No data

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000260977	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10168851	0.87[ASN][1000 genomes]
rs10190862	0.81[EUR][1000 genomes]
rs10190882	0.81[EUR][1000 genomes]
rs10197474	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11887744	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs11898458	1.00[CHB][hapmap]
rs13394007	0.81[EUR][1000 genomes]
rs13410702	0.81[EUR][1000 genomes]
rs13415655	0.81[EUR][1000 genomes]
rs13415771	0.81[EUR][1000 genomes]
rs13419072	0.81[EUR][1000 genomes]
rs13423962	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13432713	0.87[ASN][1000 genomes]
rs17035823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035859	1.00[CEU][hapmap]
rs17035867	1.00[CEU][hapmap]
rs17035884	1.00[CEU][hapmap]
rs17035919	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2017797	0.87[ASN][1000 genomes]
rs2084192	0.81[EUR][1000 genomes]
rs28379847	0.87[ASN][1000 genomes]
rs59191871	0.87[ASN][1000 genomes]
rs60194846	0.81[EUR][1000 genomes]
rs62136788	0.81[EUR][1000 genomes]
rs6714269	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6729120	1.00[CEU][hapmap]
rs6745578	1.00[CEU][hapmap]
rs71423929	0.81[EUR][1000 genomes]
rs720827	0.81[EUR][1000 genomes]
rs7340475	1.00[CEU][hapmap]
rs754411	1.00[CEU][hapmap]
rs7560422	0.87[ASN][1000 genomes]
rs7575172	0.81[EUR][1000 genomes]
rs7595101	0.87[ASN][1000 genomes]
rs8861	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47094000-47104200	Weak transcription	Gastric	stomach
3	chr2:47095200-47104200	Weak transcription	Pancreas	Pancrea
4	chr2:47096200-47103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:47096600-47106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
8	chr2:47098800-47106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:47099000-47103000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:47099400-47102400	Enhancers	Right Atrium	heart
11	chr2:47099600-47106200	Enhancers	Osteobl	bone
12	chr2:47099600-47106800	Enhancers	NHLF	lung
13	chr2:47099800-47103000	Enhancers	Fetal Stomach	stomach
14	chr2:47099800-47103400	Enhancers	Fetal Lung	lung
15	chr2:47099800-47103600	Enhancers	Fetal Muscle Leg	muscle
16	chr2:47099800-47103800	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:47099800-47106200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:47100000-47102200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:47100000-47102200	Enhancers	NH-A	brain
20	chr2:47100000-47102600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:47100000-47103400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:47100000-47103400	Enhancers	HSMM	muscle
23	chr2:47100000-47103600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:47100000-47104600	Enhancers	Colon Smooth Muscle	Colon
25	chr2:47100000-47104600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:47100000-47106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:47100000-47106400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:47100200-47102200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:47100200-47102200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:47100200-47102200	Enhancers	Ovary	ovary
31	chr2:47100200-47104800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:47100400-47102200	Enhancers	Lung	lung
33	chr2:47100400-47102200	Enhancers	Right Ventricle	heart
34	chr2:47100400-47102400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:47100400-47102400	Enhancers	Left Ventricle	heart
36	chr2:47100400-47102800	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:47100400-47103000	Enhancers	Psoas Muscle	Psoas
38	chr2:47100400-47105200	Enhancers	Fetal Heart	heart
39	chr2:47100800-47102200	Enhancers	Adipose Nuclei	Adipose
40	chr2:47101000-47102200	Enhancers	Fetal Kidney	kidney
41	chr2:47101200-47102200	Flanking Active TSS	HSMMtube	muscle
42	chr2:47101200-47104200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:47101200-47104200	Weak transcription	Colonic Mucosa	Colon
44	chr2:47101200-47104200	Weak transcription	Fetal Intestine Large	intestine
45	chr2:47101200-47104200	Weak transcription	Fetal Intestine Small	intestine
46	chr2:47101200-47104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:47101200-47105200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:47101200-47105600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:47101200-47105800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:47101200-47106200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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