Variant report

Variant	rs12701913
Chromosome Location	chr7:4783723-4783724
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4769819..4771517-chr7:4783314..4786032,2	MCF-7	breast:
2	chr7:4776716..4781716-chr7:4782818..4787338,6	MCF-7	breast:
3	chr7:4721996..4723803-chr7:4781821..4784827,3	MCF-7	breast:
4	chr7:4782605..4786224-chr7:4813010..4816039,5	K562	blood:
5	chr7:4739462..4740999-chr7:4782847..4784374,2	K562	blood:
6	chr7:4782540..4785616-chr7:4814219..4816404,3	MCF-7	breast:
7	chr7:4777751..4781095-chr7:4782680..4786251,6	K562	blood:
8	chr7:4783269..4785885-chr7:4788147..4790015,2	K562	blood:
9	chr7:4723633..4728859-chr7:4783438..4786381,5	K562	blood:
10	chr7:4783569..4786277-chr7:4791910..4794982,3	K562	blood:
11	chr7:4680522..4682464-chr7:4783695..4785954,3	MCF-7	breast:
12	chr7:4762980..4766999-chr7:4782747..4785912,5	MCF-7	breast:
13	chr7:4771743..4774713-chr7:4783422..4786273,3	MCF-7	breast:
14	chr7:4762343..4766286-chr7:4781806..4786084,5	MCF-7	breast:
15	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10228886	0.98[ASN][1000 genomes]
rs10232008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10257680	0.87[ASN][1000 genomes]
rs10261971	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10277273	0.96[ASN][1000 genomes]
rs13232425	0.88[ASN][1000 genomes]
rs3087749	0.84[ASN][1000 genomes]
rs4720401	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4720402	0.88[EUR][1000 genomes]
rs4724033	0.82[ASN][1000 genomes]
rs6463014	0.82[ASN][1000 genomes]
rs6463019	0.92[ASN][1000 genomes]
rs6944865	0.89[EUR][1000 genomes]
rs6975499	0.82[ASN][1000 genomes]
rs7781115	0.96[ASN][1000 genomes]
rs7781456	0.80[ASN][1000 genomes]
rs7784748	0.98[ASN][1000 genomes]
rs7786525	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12701913	FOXK1	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:4779600-4783800	Weak transcription	NHDF-Ad	bronchial
3	chr7:4779600-4785400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4779800-4783800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:4780200-4783800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:4780400-4784000	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr7:4780400-4784000	Genic enhancers	HepG2	liver
8	chr7:4781200-4783800	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr7:4781200-4784200	Enhancers	Brain Substantia Nigra	brain
10	chr7:4781400-4784000	Genic enhancers	Fetal Intestine Small	intestine
11	chr7:4781400-4784200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:4782000-4784000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:4782000-4784000	Genic enhancers	A549	lung
14	chr7:4782000-4784200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:4782000-4785200	Weak transcription	Aorta	Aorta
16	chr7:4782200-4783800	Weak transcription	Osteobl	bone
17	chr7:4782200-4784000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:4782200-4784600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:4782400-4784000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:4782400-4784000	Enhancers	Stomach Mucosa	stomach
21	chr7:4782400-4784200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:4782600-4783800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:4782600-4783800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:4782600-4784200	Enhancers	Brain Angular Gyrus	brain
25	chr7:4782600-4784400	Enhancers	Fetal Muscle Trunk	muscle
26	chr7:4782600-4785600	Enhancers	Fetal Kidney	kidney
27	chr7:4782600-4785600	Enhancers	NH-A	brain
28	chr7:4782600-4786400	Weak transcription	Ovary	ovary
29	chr7:4782800-4783800	Weak transcription	GM12878-XiMat	blood
30	chr7:4782800-4783800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:4782800-4783800	Weak transcription	NHLF	lung
32	chr7:4782800-4784000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:4782800-4784000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:4782800-4784000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:4782800-4784000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:4782800-4784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:4782800-4784000	Weak transcription	Liver	Liver
38	chr7:4782800-4784000	Enhancers	Colonic Mucosa	Colon
39	chr7:4782800-4784000	Weak transcription	Fetal Brain Female	brain
40	chr7:4782800-4784000	Enhancers	HSMMtube	muscle
41	chr7:4782800-4784400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:4782800-4784800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:4783000-4783800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:4783000-4783800	Enhancers	Primary T cells from cord blood	blood
45	chr7:4783000-4783800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr7:4783000-4784000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:4783000-4784000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:4783000-4784000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:4783000-4784000	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:4783000-4784000	Weak transcription	Left Ventricle	heart

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