Variant report

Variant	rs28489895
Chromosome Location	chr14:35274337-35274338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr14:35274031-35274717	U2OS	brain:	n/a	n/a
2	ZNF143	chr14:35274214-35274373	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:35274072-35274410	HL-60	blood:	n/a	n/a
4	YY1	chr14:35274167-35274390	K562	blood:	n/a	n/a
5	YY1	chr14:35274154-35274437	GM12892	blood:	n/a	n/a
6	POLR2A	chr14:35274086-35274351	K562	blood:	n/a	n/a
7	YY1	chr14:35274168-35274452	GM12878	blood:	n/a	n/a
8	YY1	chr14:35274143-35274381	GM12891	blood:	n/a	n/a
9	CBX3	chr14:35274085-35274395	K562	blood:	n/a	n/a
10	YY1	chr14:35274197-35274384	GM12892	blood:	n/a	n/a
11	YY1	chr14:35274179-35274450	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35273113..35275362-chr14:35342298..35344736,2	K562	blood:
2	chr14:35272526..35274613-chr14:35342298..35344329,2	K562	blood:
3	chr14:35265992..35268541-chr14:35273721..35276844,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263691	TF binding region
ENSG00000198604	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10131554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146953	1.00[AMR][1000 genomes]
rs10147300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147966	1.00[AMR][1000 genomes]
rs10148768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149825	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10151586	1.00[AMR][1000 genomes]
rs10162531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28571108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28613490	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28701139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735013	0.94[AFR][1000 genomes]
rs9806067	1.00[AMR][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	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
4	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
5	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:35251600-35276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:35251600-35284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
10	chr14:35252600-35277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:35257400-35282000	Strong transcription	Fetal Thymus	thymus
12	chr14:35258800-35277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:35260400-35283400	Strong transcription	Dnd41	blood
14	chr14:35262400-35279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:35262600-35276800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:35262600-35283200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:35262600-35283800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:35263800-35275000	Strong transcription	Primary T cells from cord blood	blood
19	chr14:35264800-35276600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:35265000-35278200	Weak transcription	Brain Substantia Nigra	brain
21	chr14:35265000-35296000	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:35266600-35276600	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:35266800-35277000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:35267000-35276800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:35267800-35274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:35267800-35275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:35267800-35275800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:35267800-35277600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:35267800-35292200	Weak transcription	Right Ventricle	heart
30	chr14:35268600-35280600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:35268800-35277000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr14:35269000-35282600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:35269200-35277200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:35269200-35298000	Weak transcription	Ovary	ovary
35	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
36	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:35269600-35276000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr14:35269800-35290000	Weak transcription	Placenta	Placenta
39	chr14:35270200-35286800	Weak transcription	Fetal Heart	heart
40	chr14:35270400-35274600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:35270400-35303400	Weak transcription	Stomach Mucosa	stomach
42	chr14:35270800-35277200	Strong transcription	Fetal Intestine Large	intestine
43	chr14:35271000-35275000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:35271400-35274400	Strong transcription	Hela-S3	cervix
45	chr14:35271800-35291400	Weak transcription	Spleen	Spleen
46	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
47	chr14:35272000-35290000	Weak transcription	Small Intestine	intestine
48	chr14:35272000-35296200	Weak transcription	Brain Germinal Matrix	brain
49	chr14:35272200-35274600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:35272200-35279400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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