Variant report

Variant	rs8005307
Chromosome Location	chr14:24894115-24894116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr14:24893993-24894307	HepG2	liver:	n/a	chr14:24894181-24894192
2	HNF4A	chr14:24893844-24894214	HepG2	liver:	n/a	n/a
3	BHLHE40	chr14:24893869-24894331	HepG2	liver:	n/a	n/a
4	USF2	chr14:24894060-24894249	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:24893886-24894258	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
2	chr14:24773950..24777910-chr14:24893224..24896224,3	K562	blood:
3	chr14:24883019..24886141-chr14:24892465..24894988,3	MCF-7	breast:
4	chr14:24857849..24868599-chr14:24892485..24903992,27	MCF-7	breast:
5	chr14:24775373..24777910-chr14:24893275..24896224,2	K562	blood:
6	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
7	chr14:24770313..24773040-chr14:24893619..24895992,2	MCF-7	breast:

No data

Variant related genes	Relation type
KHNYN	TF binding region
ENSG00000207141	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000258973	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10146759	0.93[ASN][1000 genomes]
rs11627882	0.85[AMR][1000 genomes]
rs3814811	0.85[AMR][1000 genomes]
rs6573793	0.87[AMR][1000 genomes]
rs7151995	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24884200-24894200	Weak transcription	Left Ventricle	heart
2	chr14:24885200-24897400	Weak transcription	Lung	lung
3	chr14:24886600-24894400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:24888200-24896000	Weak transcription	Right Atrium	heart
5	chr14:24888400-24896000	Weak transcription	Esophagus	oesophagus
6	chr14:24888400-24897000	Weak transcription	Spleen	Spleen
7	chr14:24888800-24894200	Weak transcription	Ovary	ovary
8	chr14:24889600-24895800	Weak transcription	Pancreas	Pancrea
9	chr14:24892000-24894400	Enhancers	HUVEC	blood vessel
10	chr14:24892000-24894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:24892000-24896400	Weak transcription	Thymus	Thymus
12	chr14:24892200-24894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:24892200-24894400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:24892200-24894400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:24892200-24894600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:24892200-24894600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:24892200-24898200	Weak transcription	GM12878-XiMat	blood
18	chr14:24892400-24894200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:24892400-24894800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:24892400-24895800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:24892400-24896400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:24892400-24898000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:24892600-24894400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:24892600-24894800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:24892600-24895000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:24892600-24898000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:24892600-24898200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:24892800-24894200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:24892800-24894600	Active TSS	Stomach Mucosa	stomach
30	chr14:24892800-24894800	Weak transcription	Dnd41	blood
31	chr14:24892800-24896000	Weak transcription	Fetal Thymus	thymus
32	chr14:24892800-24896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:24892800-24896200	Weak transcription	Primary B cells from cord blood	blood
34	chr14:24892800-24896400	Active TSS	Duodenum Mucosa	Duodenum
35	chr14:24892800-24898400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:24893000-24894400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:24893000-24894600	Weak transcription	Primary T cells from cord blood	blood
38	chr14:24893000-24894600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:24893000-24895800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:24893000-24895800	Weak transcription	Gastric	stomach
41	chr14:24893000-24896000	Enhancers	HepG2	liver
42	chr14:24893000-24898000	Weak transcription	Placenta	Placenta
43	chr14:24893000-24898600	Enhancers	Fetal Intestine Large	intestine
44	chr14:24893200-24894600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:24893400-24894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:24893400-24894800	Enhancers	K562	blood
47	chr14:24893400-24898400	Enhancers	Liver	Liver
48	chr14:24893600-24894200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:24893800-24894400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:24893800-24894600	Enhancers	Small Intestine	intestine

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