Variant report

Variant	rs17506461
Chromosome Location	chr8:119125846-119125847
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	TCF12	chr8:119125375-119125973	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr8:119125545-119125889	SH-SY5Y	brain:	n/a	n/a
3	CTCF	chr8:119125740-119125890	GM12866	blood:	n/a	n/a
4	TAF1	chr8:119124958-119125894	PFSK-1	brain:	n/a	n/a
5	TCF12	chr8:119125116-119126111	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr8:119125372-119126074	SK-N-SH	brain:	n/a	n/a
7	RCOR1	chr8:119125561-119125897	K562	blood:	n/a	n/a
8	USF1	chr8:119125666-119125856	SK-N-SH_RA	brain:	n/a	n/a
9	MAZ	chr8:119122672-119126306	IMR90	lung:	n/a	chr8:119125753-119125764 chr8:119125057-119125066
10	GATA3	chr8:119125421-119125921	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr8:119119998-119126465	SK-N-SH	brain:	n/a	chr8:119125772-119125782
12	EP300	chr8:119125529-119125923	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr8:119125220-119125862	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr8:119119438-119125957	IMR90	lung:	n/a	n/a
15	GATA2	chr8:119124796-119126277	SH-SY5Y	brain:	n/a	n/a
16	REST	chr8:119125638-119125875	SK-N-SH	brain:	n/a	chr8:119125662-119125680
17	REST	chr8:119125175-119125878	PFSK-1	brain:	n/a	chr8:119125662-119125680
18	SIN3AK20	chr8:119125618-119125887	PFSK-1	brain:	n/a	n/a
19	RAD21	chr8:119125612-119125890	SK-N-SH_RA	brain:	n/a	chr8:119125772-119125782
20	POLR2A	chr8:119123667-119125880	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr8:119125546-119125855	SK-N-SH	brain:	n/a	n/a
22	CHD1	chr8:119115687-119126076	IMR90	lung:	n/a	chr8:119123550-119123560
23	RAD21	chr8:119125551-119125898	SK-N-SH_RA	brain:	n/a	chr8:119125772-119125782
24	POLR2A	chr8:119120741-119125873	HUVEC	blood vessel:	n/a	n/a
25	USF1	chr8:119125587-119125874	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:118890541..118892939-chr8:119125383..119127926,2	MCF-7	breast:
2	chr8:119124285..119125855-chr8:119134931..119136550,3	K562	blood:
3	chr8:119108619..119110803-chr8:119124925..119127142,2	K562	blood:

Variant related genes	Relation type
EXT1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17477413	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477455	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477497	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477525	1.00[AMR][1000 genomes]
rs17477580	1.00[AMR][1000 genomes]
rs17477629	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477650	1.00[AMR][1000 genomes]
rs17506336	0.89[YRI][hapmap]
rs17506357	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17506392	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17506426	0.88[YRI][hapmap]
rs17506489	1.00[AMR][1000 genomes]
rs17506545	1.00[AMR][1000 genomes]
rs17506573	1.00[AMR][1000 genomes]
rs60848112	1.00[AMR][1000 genomes]
rs7009198	0.89[YRI][hapmap]

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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119124600-119126400	Enhancers	Fetal Heart	heart
2	chr8:119124800-119126000	Enhancers	Fetal Intestine Small	intestine
3	chr8:119124800-119126200	Enhancers	Fetal Muscle Trunk	muscle
4	chr8:119124800-119126200	Enhancers	Fetal Thymus	thymus
5	chr8:119124800-119126400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:119124800-119126400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:119124800-119126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:119124800-119128400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:119124800-119128400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:119124800-119128600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:119124800-119136200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:119125000-119126200	Enhancers	Colonic Mucosa	Colon
13	chr8:119125000-119126400	Enhancers	Fetal Lung	lung
14	chr8:119125000-119126400	Enhancers	HUVEC	blood vessel
15	chr8:119125000-119128000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:119125000-119128400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:119125000-119128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:119125000-119128400	Weak transcription	GM12878-XiMat	blood
19	chr8:119125000-119128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:119125000-119128600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:119125000-119128600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:119125000-119134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:119125200-119126200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:119125200-119126400	Enhancers	Fetal Muscle Leg	muscle
25	chr8:119125200-119126400	Enhancers	NHDF-Ad	bronchial
26	chr8:119125200-119126600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:119125200-119128600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:119125200-119128800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:119125400-119126000	Weak transcription	Lung	lung
30	chr8:119125400-119126000	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:119125400-119126200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:119125400-119126400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:119125400-119128600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:119125400-119129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:119125400-119129400	Enhancers	HMEC	breast
36	chr8:119125400-119138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:119125600-119126400	Enhancers	Hela-S3	cervix
38	chr8:119125600-119126600	Weak transcription	HSMMtube	muscle
39	chr8:119125600-119127800	Weak transcription	Dnd41	blood
40	chr8:119125600-119128600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:119125800-119126200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:119125800-119126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:119125800-119126200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:119125800-119126200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:119125800-119126400	Enhancers	HepG2	liver
46	chr8:119125800-119126400	Enhancers	NHLF	lung
47	chr8:119125800-119127400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:119125800-119127800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:119125800-119128000	Weak transcription	NHEK	skin
50	chr8:119125800-119128200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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