Variant report

Variant	rs10505033
Chromosome Location	chr8:103548901-103548902
allele	A/G
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	SIN3A	chr8:103547929-103549256	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr8:103548863-103550280	A549	lung:	n/a	n/a
3	POLR2A	chr8:103548429-103548903	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr8:103548831-103549117	SH-SY5Y	brain:	n/a	n/a
5	ATF2	chr8:103547563-103548901	GM12878	blood:	n/a	n/a
6	TCF12	chr8:103548758-103550285	SK-N-SH	brain:	n/a	chr8:103548853-103548860
7	YY1	chr8:103548463-103548996	GM12878	blood:	n/a	n/a
8	GATA3	chr8:103548817-103549992	A549	lung:	n/a	chr8:103549643-103549652 chr8:103549640-103549649
9	POLR2A	chr8:103547796-103548917	H1-hESC	embryonic stem cell:	n/a	n/a
10	PML	chr8:103547505-103548919	GM12878	blood:	n/a	n/a
11	TCF12	chr8:103547697-103550461	A549	lung:	n/a	chr8:103548853-103548860
12	EP300	chr8:103548899-103550010	A549	lung:	n/a	n/a
13	YY1	chr8:103547959-103549021	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr8:103548525-103550098	Hela-S3	cervix:	n/a	n/a
15	RCOR1	chr8:103547705-103551463	IMR90	lung:	n/a	n/a
16	NFIC	chr8:103546229-103548925	GM12878	blood:	n/a	chr8:103548105-103548121
17	POLR2A	chr8:103547414-103549522	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr8:103548849-103550355	SK-N-SH	brain:	n/a	chr8:103548853-103548860
19	MTA3	chr8:103547511-103548964	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:103547808-103550719	IMR90	lung:	n/a	n/a
21	SMARCC1	chr8:103548018-103550140	Hela-S3	cervix:	n/a	n/a
22	EP300	chr8:103547756-103548937	GM12878	blood:	n/a	chr8:103548470-103548484
23	MAFK	chr8:103547890-103549442	H1-hESC	embryonic stem cell:	n/a	chr8:103549334-103549345 chr8:103548579-103548595
24	GATA2	chr8:103548748-103549111	SH-SY5Y	brain:	n/a	n/a
25	MAZ	chr8:103548896-103550465	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103548290..103549858-chr8:103666660..103669466,2	K562	blood:
2	chr8:103437958..103439977-chr8:103547146..103549346,2	MCF-7	breast:
3	chr8:103547915..103550298-chr8:103554370..103557167,3	K562	blood:
4	chr8:103423156..103426710-chr8:103547734..103551186,4	MCF-7	breast:
5	chr8:103540698..103544207-chr8:103546696..103550142,4	MCF-7	breast:
6	chr8:103255266..103257268-chr8:103548486..103550242,2	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16869483	0.84[CEU][hapmap]
rs16869517	0.84[CEU][hapmap]
rs17185729	0.86[AMR][1000 genomes]
rs17766593	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5001330	0.91[CEU][hapmap]
rs55690838	0.83[AMR][1000 genomes]
rs56394526	0.83[AMR][1000 genomes]
rs72683035	0.80[EUR][1000 genomes]
rs72683040	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72683041	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72683053	0.84[EUR][1000 genomes]
rs72683057	0.84[EUR][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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103541200-103549000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:103541800-103549800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:103543400-103549400	Weak transcription	K562	blood
4	chr8:103544000-103550600	Enhancers	Fetal Brain Male	brain
5	chr8:103546200-103549000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:103546200-103549200	Enhancers	Osteobl	bone
7	chr8:103546200-103550200	Enhancers	NHDF-Ad	bronchial
8	chr8:103546400-103550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:103546600-103549000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:103546600-103550200	Enhancers	Thymus	Thymus
11	chr8:103546600-103550200	Enhancers	NHLF	lung
12	chr8:103546600-103550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:103546600-103550600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:103546600-103550600	Enhancers	Fetal Thymus	thymus
15	chr8:103546800-103550000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
17	chr8:103547000-103549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:103547000-103549600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
20	chr8:103547400-103549000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:103547400-103549600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr8:103547400-103550200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:103547600-103549000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:103547600-103549000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:103547600-103549000	Enhancers	NH-A	brain
26	chr8:103547600-103549200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:103547600-103550000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:103547600-103550000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:103547600-103550200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:103547600-103550400	Enhancers	NHEK	skin
31	chr8:103547600-103550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:103547600-103550600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:103547800-103549600	Enhancers	Psoas Muscle	Psoas
34	chr8:103547800-103550200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:103547800-103550200	Enhancers	Brain Hippocampus Middle	brain
36	chr8:103547800-103550200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:103547800-103550400	Flanking Active TSS	A549	lung
38	chr8:103547800-103550800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:103548000-103549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:103548000-103549200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:103548000-103549200	Enhancers	Placenta	Placenta
42	chr8:103548000-103549200	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:103548000-103549200	Enhancers	HSMMtube	muscle
44	chr8:103548000-103549600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:103548000-103549600	Enhancers	Adipose Nuclei	Adipose
46	chr8:103548000-103549800	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:103548000-103549800	Enhancers	Fetal Muscle Leg	muscle
48	chr8:103548000-103550200	Enhancers	Brain Angular Gyrus	brain
49	chr8:103548000-103550400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:103548000-103550400	Enhancers	Brain Cingulate Gyrus	brain

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