Variant report

Variant	rs57164636
Chromosome Location	chr14:24796660-24796661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24796520-24796670	HUVEC	blood vessel:	n/a	n/a
2	TCF12	chr14:24796461-24797028	HepG2	liver:	n/a	n/a
3	CTCF	chr14:24796615-24796665	GM19239	blood:	n/a	n/a
4	CTCF	chr14:24796640-24796790	AoAF	blood vessel:	n/a	n/a
5	POLR2A	chr14:24796501-24797020	HL-60	blood:	n/a	n/a
6	CTCF	chr14:24796594-24796690	GM12892	blood:	n/a	n/a
7	CTCF	chr14:24796640-24796790	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:24796584-24796794	HUVEC	blood vessel:	n/a	n/a
9	SPI1	chr14:24796559-24797055	HL-60	blood:	n/a	chr14:24796711-24796724 chr14:24796707-24796714
10	POLR2A	chr14:24796290-24796972	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr14:24796442-24797020	HL-60	blood:	n/a	n/a
12	POLR2A	chr14:24796452-24797001	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
2	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
3	chr14:24791657..24793644-chr14:24793834..24797111,3	MCF-7	breast:
4	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
5	chr14:24796552..24799266-chr14:24908909..24911628,3	K562	blood:
6	chr14:24796459..24799989-chr14:24897944..24901736,5	K562	blood:

No data

Variant related genes	Relation type
ADCY4	TF binding region
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129467	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10130418	0.83[EUR][1000 genomes]
rs17102926	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17102928	0.85[EUR][1000 genomes]
rs2144490	0.85[EUR][1000 genomes]
rs4982902	0.83[EUR][1000 genomes]
rs60014309	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv516237	chr14:24793762-24799358	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24786200-24801600	Weak transcription	Left Ventricle	heart
2	chr14:24787000-24801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:24788400-24801000	Weak transcription	Gastric	stomach
4	chr14:24792200-24798200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:24793400-24797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:24793800-24797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:24793800-24801000	Weak transcription	Right Ventricle	heart
8	chr14:24794200-24797200	Weak transcription	Fetal Stomach	stomach
9	chr14:24794800-24801200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:24794800-24801200	Weak transcription	K562	blood
11	chr14:24795000-24801200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:24795600-24801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:24795800-24797000	Enhancers	Primary B cells from cord blood	blood
14	chr14:24795800-24797000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:24796400-24796800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:24796400-24796800	Enhancers	Colonic Mucosa	Colon
17	chr14:24796400-24796800	Strong transcription	Osteobl	bone
18	chr14:24796400-24797000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr14:24796400-24797000	Enhancers	Primary T cells from cord blood	blood
20	chr14:24796400-24797000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:24796400-24797000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:24796400-24797000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:24796400-24797000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:24796400-24797000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:24796400-24797000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:24796400-24797000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:24796400-24797000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:24796400-24797000	Enhancers	Adipose Nuclei	Adipose
29	chr14:24796400-24797000	Enhancers	Liver	Liver
30	chr14:24796400-24797000	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:24796400-24797000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:24796400-24797000	Enhancers	Fetal Muscle Leg	muscle
33	chr14:24796400-24797000	Enhancers	Placenta	Placenta
34	chr14:24796400-24797000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr14:24796400-24797000	Enhancers	Spleen	Spleen
36	chr14:24796400-24797000	Enhancers	Dnd41	blood
37	chr14:24796400-24797000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr14:24796400-24797200	Enhancers	Primary hematopoietic stem cells	blood
39	chr14:24796400-24797200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr14:24796400-24797200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr14:24796400-24797200	Enhancers	Fetal Thymus	thymus
42	chr14:24796400-24798400	Enhancers	Primary B cells from peripheral blood	blood
43	chr14:24796400-24798400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:24796600-24796800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:24796600-24796800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:24796600-24796800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:24796600-24796800	Enhancers	Right Atrium	heart
48	chr14:24796600-24796800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr14:24796600-24797000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:24796600-24797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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