Variant report

Variant	rs61296144
Chromosome Location	chr14:103884048-103884049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr14:103883978-103884223	SK-N-SH	brain:	n/a	n/a
2	JUND	chr14:103883757-103884509	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr14:103883853-103884428	SK-N-SH	brain:	n/a	n/a
4	FOS	chr14:103883744-103884300	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr14:103883970-103884260	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr14:103884041-103884239	K562	blood:	n/a	n/a
7	EGR1	chr14:103883966-103884226	K562	blood:	n/a	n/a
8	IRF1	chr14:103883809-103884187	K562	blood:	n/a	n/a
9	TBL1XR1	chr14:103883939-103884271	K562	blood:	n/a	n/a
10	RXRA	chr14:103883891-103884435	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr14:103883988-103884188	K562	blood:	n/a	n/a
12	FOSL1	chr14:103883963-103884245	K562	blood:	n/a	chr14:103884131-103884142
13	JUND	chr14:103883883-103884422	SK-N-SH	brain:	n/a	n/a
14	HDAC2	chr14:103884028-103884217	K562	blood:	n/a	n/a
15	EP300	chr14:103883856-103885190	K562	blood:	n/a	n/a
16	FOS	chr14:103883937-103884209	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr14:103883970-103884271	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr14:103883807-103884422	SK-N-SH	brain:	n/a	n/a
19	IRF1	chr14:103883796-103884218	K562	blood:	n/a	n/a
20	TEAD4	chr14:103883928-103884260	K562	blood:	n/a	n/a
21	NR2F2	chr14:103883931-103884239	K562	blood:	n/a	n/a
22	JUN	chr14:103883973-103884604	K562	blood:	n/a	n/a
23	ARID3A	chr14:103883999-103884183	K562	blood:	n/a	n/a
24	RCOR1	chr14:103883977-103884359	K562	blood:	n/a	n/a
25	JUN	chr14:103883810-103884288	K562	blood:	n/a	n/a
26	ATF3	chr14:103883900-103884221	K562	blood:	n/a	n/a
27	FOS	chr14:103883984-103884291	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL1	chr14:103883988-103884248	K562	blood:	n/a	chr14:103884131-103884142
29	POLR2A	chr14:103883970-103884230	K562	blood:	n/a	n/a
30	JUND	chr14:103883931-103884361	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103799657..103801289-chr14:103882797..103884617,2	MCF-7	breast:
2	chr14:103883876..103886732-chr14:103888841..103890509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244691	TF binding region
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs35683215	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36089168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56107951	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56195804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56355095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59233542	1.00[AMR][1000 genomes]
rs59481765	1.00[AMR][1000 genomes]
rs60627181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006992	1.00[AMR][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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:103875400-103884200	Weak transcription	Psoas Muscle	Psoas
9	chr14:103875400-103884600	Weak transcription	Small Intestine	intestine
10	chr14:103875400-103887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:103875400-103888600	Weak transcription	Gastric	stomach
12	chr14:103875400-103889600	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:103875600-103884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
17	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
18	chr14:103875800-103889800	Weak transcription	Lung	lung
19	chr14:103876800-103887800	Weak transcription	Pancreas	Pancrea
20	chr14:103879000-103892800	Weak transcription	Spleen	Spleen
21	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
23	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:103879200-103887200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:103879600-103889400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:103879800-103887400	Weak transcription	HepG2	liver
27	chr14:103880200-103884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:103880400-103894200	Weak transcription	Liver	Liver
29	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
30	chr14:103881000-103887000	Weak transcription	Thymus	Thymus
31	chr14:103881000-103889200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:103881000-103890600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
34	chr14:103882000-103886000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:103882000-103887200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:103882200-103884600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr14:103882600-103884200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr14:103882600-103884200	Enhancers	Ovary	ovary
39	chr14:103882600-103885000	Enhancers	Adipose Nuclei	Adipose
40	chr14:103882600-103885200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:103882600-103886800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:103882800-103884200	Strong transcription	Fetal Intestine Small	intestine
43	chr14:103882800-103885000	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:103882800-103885600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:103883000-103884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:103883000-103885000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:103883000-103885000	Enhancers	Brain Angular Gyrus	brain
48	chr14:103883000-103885000	Enhancers	Brain Substantia Nigra	brain
49	chr14:103883000-103885000	Enhancers	Left Ventricle	heart
50	chr14:103883000-103885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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