Variant report

Variant	rs16869515
Chromosome Location	chr8:103549754-103549755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:103548863-103550280	A549	lung:	n/a	n/a
2	JUND	chr8:103549570-103550026	K562	blood:	n/a	chr8:103549932-103549943 chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
3	FOS	chr8:103549058-103549972	MCF10A-Er-Src	breast:	n/a	chr8:103549932-103549943 chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
4	TCF12	chr8:103548758-103550285	SK-N-SH	brain:	n/a	chr8:103548853-103548860
5	CTBP2	chr8:103549537-103550918	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOS	chr8:103549042-103549979	Hela-S3	cervix:	n/a	chr8:103549932-103549943 chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
7	FOSL2	chr8:103549024-103549908	SK-N-SH	brain:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
8	FOS	chr8:103548988-103549848	HUVEC	blood vessel:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
9	ELF1	chr8:103549662-103550017	K562	blood:	n/a	n/a
10	POLR2A	chr8:103549673-103550265	U87	brain:	n/a	n/a
11	FOSL2	chr8:103548923-103549881	A549	lung:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
12	MAFK	chr8:103549738-103549978	K562	blood:	n/a	n/a
13	EP300	chr8:103549108-103549917	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr8:103548817-103549992	A549	lung:	n/a	chr8:103549643-103549652 chr8:103549640-103549649
15	RAD21	chr8:103549030-103550172	Hela-S3	cervix:	n/a	chr8:103550075-103550087
16	GTF2F1	chr8:103549032-103550459	Hela-S3	cervix:	n/a	n/a
17	TCF7L2	chr8:103549089-103550222	Hela-S3	cervix:	n/a	chr8:103549642-103549651
18	TCF12	chr8:103547697-103550461	A549	lung:	n/a	chr8:103548853-103548860
19	SP1	chr8:103548940-103549913	A549	lung:	n/a	chr8:103549625-103549635 chr8:103549621-103549635 chr8:103549625-103549634
20	PBX3	chr8:103548977-103550123	SK-N-SH	brain:	n/a	chr8:103549185-103549205
21	RCOR1	chr8:103549710-103550076	K562	blood:	n/a	n/a
22	MAFK	chr8:103549123-103550137	Hela-S3	cervix:	n/a	chr8:103549334-103549345
23	FOS	chr8:103549073-103549814	MCF10A-Er-Src	breast:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
24	EP300	chr8:103548899-103550010	A549	lung:	n/a	n/a
25	POLR2A	chr8:103549700-103550113	Hela-S3	cervix:	n/a	n/a
26	MAFK	chr8:103549081-103550232	IMR90	lung:	n/a	chr8:103549334-103549345
27	CHD2	chr8:103548525-103550098	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr8:103547705-103551463	IMR90	lung:	n/a	n/a
29	REST	chr8:103548968-103549885	A549	lung:	n/a	n/a
30	MAX	chr8:103549033-103550108	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr8:103548849-103550355	SK-N-SH	brain:	n/a	chr8:103548853-103548860
32	SIN3A	chr8:103549711-103550289	H1-hESC	embryonic stem cell:	n/a	n/a
33	RUNX3	chr8:103549744-103550233	GM12878	blood:	n/a	n/a
34	JUND	chr8:103548935-103549866	SK-N-SH	brain:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
35	POLR2A	chr8:103547808-103550719	IMR90	lung:	n/a	n/a
36	SMARCC1	chr8:103548018-103550140	Hela-S3	cervix:	n/a	n/a
37	RCOR1	chr8:103549089-103549880	Hela-S3	cervix:	n/a	n/a
38	FOS	chr8:103549080-103549886	MCF10A-Er-Src	breast:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
39	EGR1	chr8:103549511-103549979	K562	blood:	n/a	chr8:103549604-103549615 chr8:103549598-103549620
40	CEBPB	chr8:103549076-103549948	IMR90	lung:	n/a	n/a
41	JUND	chr8:103549089-103549794	Hela-S3	cervix:	n/a	chr8:103549641-103549651 chr8:103549641-103549651 chr8:103549638-103549649
42	MAZ	chr8:103548896-103550465	IMR90	lung:	n/a	n/a
43	SMC3	chr8:103549075-103550229	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr8:103549066-103550013	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103548290..103549858-chr8:103666660..103669466,2	K562	blood:
2	chr8:103545241..103546971-chr8:103549394..103552114,2	MCF-7	breast:
3	chr8:103545032..103547830-chr8:103548926..103551199,2	MCF-7	breast:
4	chr8:103547915..103550298-chr8:103554370..103557167,3	K562	blood:
5	chr8:103423156..103426710-chr8:103547734..103551186,4	MCF-7	breast:
6	chr8:103540698..103544207-chr8:103546696..103550142,4	MCF-7	breast:
7	chr8:103549075..103551753-chr8:103552917..103555861,3	MCF-7	breast:
8	chr8:103255266..103257268-chr8:103548486..103550242,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1224P	TF binding region
ENSG00000246263	Chromatin interaction
ENSG00000252593	Chromatin interaction
ENSG00000253633	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10096888	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10104409	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13273726	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13274948	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2053129	0.91[ASN][1000 genomes]
rs2053130	0.91[ASN][1000 genomes]
rs28534782	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28580375	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2892452	0.86[ASN][1000 genomes]
rs35708461	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58266138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989511	0.91[ASN][1000 genomes]
rs7002944	0.85[JPT][hapmap]
rs7831508	0.82[ASN][1000 genomes]
rs7831569	0.82[ASN][1000 genomes]
rs9297325	0.89[ASN][1000 genomes]
rs9297327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103541800-103549800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:103544000-103550600	Enhancers	Fetal Brain Male	brain
3	chr8:103546200-103550200	Enhancers	NHDF-Ad	bronchial
4	chr8:103546400-103550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:103546600-103550200	Enhancers	Thymus	Thymus
6	chr8:103546600-103550200	Enhancers	NHLF	lung
7	chr8:103546600-103550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:103546600-103550600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:103546600-103550600	Enhancers	Fetal Thymus	thymus
10	chr8:103546800-103550000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
12	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
13	chr8:103547400-103550200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:103547600-103550000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:103547600-103550000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:103547600-103550200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:103547600-103550400	Enhancers	NHEK	skin
18	chr8:103547600-103550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:103547600-103550600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:103547800-103550200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:103547800-103550200	Enhancers	Brain Hippocampus Middle	brain
22	chr8:103547800-103550200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:103547800-103550400	Flanking Active TSS	A549	lung
24	chr8:103547800-103550800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:103548000-103549800	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:103548000-103549800	Enhancers	Fetal Muscle Leg	muscle
27	chr8:103548000-103550200	Enhancers	Brain Angular Gyrus	brain
28	chr8:103548000-103550400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:103548000-103550400	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:103548000-103550600	Flanking Active TSS	Hela-S3	cervix
31	chr8:103548000-103550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:103548000-103550800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:103548000-103550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:103548000-103550800	Enhancers	Brain Anterior Caudate	brain
35	chr8:103548000-103550800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:103548000-103551000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:103548000-103551000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:103548000-103551000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:103548200-103549800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:103548200-103550000	Enhancers	Brain Substantia Nigra	brain
41	chr8:103548200-103550400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:103548200-103550400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:103548200-103550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:103548200-103550600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:103548400-103550400	Enhancers	HSMM	muscle
46	chr8:103548400-103551400	Weak transcription	Left Ventricle	heart
47	chr8:103548600-103549800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:103548600-103550400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:103548600-103550600	Enhancers	GM12878-XiMat	blood
50	chr8:103548600-103550800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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