Variant report

Variant	rs6713518
Chromosome Location	chr2:113385533-113385534
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113383684..113385667-chr2:113481537..113485469,35	K562	blood:
2	chr2:113385173..113386077-chr2:113402039..113402607,2	Hela-S3	cervix:
3	chr2:113383343..113387238-chr2:113388797..113391596,3	MCF-7	breast:
4	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
5	chr2:113380240..113386960-chr2:113401832..113406779,10	MCF-7	breast:
6	chr2:113380970..113385799-chr2:113479613..113484625,8	K562	blood:
7	chr2:113361529..113364107-chr2:113384618..113387242,2	K562	blood:
8	chr2:113382212..113385648-chr2:113390770..113393800,3	MCF-7	breast:
9	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
10	chr2:113383706..113386562-chr2:113417388..113419756,2	MCF-7	breast:
11	chr2:113361529..113363513-chr2:113383774..113386118,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11888272	1.00[EUR][1000 genomes]
rs11894217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897860	1.00[EUR][1000 genomes]
rs17042244	1.00[EUR][1000 genomes]
rs35477917	1.00[EUR][1000 genomes]
rs58234548	1.00[EUR][1000 genomes]
rs58677663	1.00[EUR][1000 genomes]
rs59684113	1.00[EUR][1000 genomes]
rs6732118	1.00[EUR][1000 genomes]
rs6740389	1.00[EUR][1000 genomes]
rs72948443	1.00[EUR][1000 genomes]
rs72948451	1.00[EUR][1000 genomes]
rs72950328	1.00[EUR][1000 genomes]
rs7585978	1.00[EUR][1000 genomes]

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	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113372400-113388600	Weak transcription	Gastric	stomach
2	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113379800-113387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:113380200-113387600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:113380400-113387600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:113381600-113386000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:113381600-113388200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:113381600-113389600	Enhancers	Placenta	Placenta
11	chr2:113382000-113385800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:113382400-113387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:113383400-113386000	Enhancers	Fetal Thymus	thymus
14	chr2:113383400-113386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:113383600-113385800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:113383600-113385800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr2:113383600-113385800	Enhancers	K562	blood
18	chr2:113383600-113386000	Enhancers	Primary B cells from cord blood	blood
19	chr2:113383800-113385800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:113384000-113385600	Flanking Active TSS	HSMM	muscle
21	chr2:113384000-113385800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr2:113384000-113386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:113384000-113386000	Enhancers	Small Intestine	intestine
24	chr2:113384000-113386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:113384200-113385800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:113384200-113386000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:113384400-113385800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:113384600-113385800	Enhancers	Primary T cells from cord blood	blood
30	chr2:113384600-113385800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:113384600-113385800	Enhancers	Adipose Nuclei	Adipose
32	chr2:113384600-113385800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:113384600-113385800	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:113384600-113385800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:113384600-113386200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:113384600-113387800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:113384600-113387800	Weak transcription	Liver	Liver
38	chr2:113384600-113388000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:113384600-113388000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:113384600-113388000	Weak transcription	Left Ventricle	heart
41	chr2:113384600-113388600	Weak transcription	Right Ventricle	heart
42	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:113384800-113385800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:113384800-113385800	Enhancers	Brain Hippocampus Middle	brain
46	chr2:113384800-113385800	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:113384800-113385800	Enhancers	Thymus	Thymus
48	chr2:113384800-113386200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:113384800-113386200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:113384800-113387800	Enhancers	Primary T helper cells PMA-I stimulated	--

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