Variant report

Variant	rs7835167
Chromosome Location	chr8:87527180-87527181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:87526396-87527211	K562	blood:	n/a	n/a
2	MXI1	chr8:87526979-87527308	GM12878	blood:	n/a	n/a
3	IRF1	chr8:87526389-87527575	K562	blood:	n/a	n/a
4	MAX	chr8:87526302-87527344	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr8:87526406-87527361	HepG2	liver:	n/a	n/a
6	MAX	chr8:87526084-87527565	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:87526322-87527382	Hela-S3	cervix:	n/a	n/a
8	SIN3AK20	chr8:87526615-87527255	PANC-1	pancreas:	n/a	n/a
9	MAX	chr8:87526249-87527369	ECC-1	luminal epithelium:	n/a	n/a
10	MYC	chr8:87527057-87527239	MCF-7	breast:	n/a	n/a
11	CTCF	chr8:87527158-87527203	MCF-7	breast:	n/a	n/a
12	RCOR1	chr8:87526433-87527350	K562	blood:	n/a	n/a
13	POLR2A	chr8:87526350-87527309	GM18951	blood:	n/a	n/a
14	RFX5	chr8:87526411-87527244	Hela-S3	cervix:	n/a	chr8:87526786-87526801 chr8:87526813-87526822 chr8:87526810-87526825
15	RUNX3	chr8:87526617-87527345	GM12878	blood:	n/a	n/a
16	MYC	chr8:87526347-87527220	K562	blood:	n/a	n/a
17	POLR2A	chr8:87526331-87527200	Raji	blood:	n/a	n/a
18	POLR2A	chr8:87526360-87527241	PFSK-1	brain:	n/a	n/a
19	UBTF	chr8:87526497-87527291	K562	blood:	n/a	n/a
20	FOXA1	chr8:87527180-87527458	T-47D	breast:	n/a	n/a
21	PML	chr8:87526305-87527230	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:87527141-87527332	HepG2	liver:	n/a	n/a
23	MAX	chr8:87526395-87527223	HepG2	liver:	n/a	n/a
24	CHD2	chr8:87526449-87527701	GM12878	blood:	n/a	n/a
25	CTCF	chr8:87527060-87527210	HAc	cerebellar:	n/a	n/a
26	TCF3	chr8:87526687-87527272	GM12878	blood:	n/a	chr8:87527073-87527089
27	SIN3AK20	chr8:87526421-87527733	MCF-7	breast:	n/a	n/a
28	TCF12	chr8:87526647-87527269	ECC-1	luminal epithelium:	n/a	n/a
29	ZNF143	chr8:87526405-87527195	GM12878	blood:	n/a	n/a
30	MAX	chr8:87526348-87527513	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:87526638-87527229	GM12878	blood:	n/a	n/a
32	ELF1	chr8:87526501-87527337	GM12878	blood:	n/a	chr8:87527028-87527040 chr8:87526894-87526906
33	TCF7L2	chr8:87526801-87527233	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr8:87526365-87527392	GM18505	blood:	n/a	n/a
35	POLR2A	chr8:87526306-87527373	MCF-7	breast:	n/a	n/a
36	POLR2A	chr8:87526395-87527463	HepG2	liver:	n/a	n/a
37	TAF1	chr8:87526426-87527234	HepG2	liver:	n/a	n/a
38	FOXP2	chr8:87526406-87527314	PFSK-1	brain:	n/a	n/a
39	MYC	chr8:87526496-87527211	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr8:87527160-87527310	MCF-7	breast:	n/a	n/a
41	POLR2A	chr8:87526313-87527247	ProgFib	skin:	n/a	n/a
42	MAX	chr8:87526278-87527399	SK-N-SH	brain:	n/a	n/a
43	MAX	chr8:87526256-87527430	HCT-116	colon:	n/a	n/a
44	CREB1	chr8:87526306-87527242	HepG2	liver:	n/a	n/a
45	YY1	chr8:87526740-87527269	GM12892	blood:	n/a	chr8:87527245-87527259
46	SIN3A	chr8:87526291-87527435	H1-hESC	embryonic stem cell:	n/a	n/a
47	MXI1	chr8:87526778-87527245	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr8:87526509-87527222	Hela-S3	cervix:	n/a	n/a
49	MAX	chr8:87526266-87527464	MCF-7	breast:	n/a	n/a
50	E2F6	chr8:87526319-87527209	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
2	chr8:87524372..87527585-chr8:99056393..99058902,3	MCF-7	breast:
3	chr11:62621914..62624685-chr8:87526558..87528139,2	MCF-7	breast:
4	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:

No data

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000168003	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000176623	Chromatin interaction

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

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

rs_ID	r²[population]
rs34473043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35154764	1.00[EUR][1000 genomes]
rs35584329	0.92[EUR][1000 genomes]
rs66948125	0.92[EUR][1000 genomes]
rs67671364	0.92[EUR][1000 genomes]
rs68064728	0.98[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7011900	0.84[EUR][1000 genomes]
rs73257101	0.84[EUR][1000 genomes]
rs73265786	0.92[EUR][1000 genomes]
rs73273117	0.84[EUR][1000 genomes]
rs73273136	0.84[EUR][1000 genomes]
rs73273139	0.84[EUR][1000 genomes]
rs73273140	0.84[EUR][1000 genomes]
rs73273151	0.84[EUR][1000 genomes]
rs73273159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73273168	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7819287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87526000-87527200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:87526200-87527400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:87526200-87527400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:87526200-87527400	Active TSS	Fetal Brain Female	brain
5	chr8:87526200-87527400	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:87526200-87527600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:87526200-87527600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:87526200-87527600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:87526200-87528000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:87526200-87528000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:87526400-87527200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:87526400-87527200	Active TSS	Primary T cells from cord blood	blood
13	chr8:87526400-87527200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:87526400-87527200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr8:87526400-87527200	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr8:87526400-87527200	Active TSS	GM12878-XiMat	blood
17	chr8:87526400-87527200	Active TSS	HepG2	liver
18	chr8:87526400-87527400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:87526400-87527400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:87526400-87527400	Active TSS	Brain Angular Gyrus	brain
21	chr8:87526400-87527400	Active TSS	Brain Anterior Caudate	brain
22	chr8:87526400-87527400	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:87526400-87527400	Active TSS	Brain Hippocampus Middle	brain
24	chr8:87526400-87527400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:87526400-87527400	Active TSS	Colon Smooth Muscle	Colon
26	chr8:87526400-87527400	Active TSS	Fetal Stomach	stomach
27	chr8:87526400-87527400	Active TSS	A549	lung
28	chr8:87526400-87527600	Active TSS	Aorta	Aorta
29	chr8:87526400-87527600	Active TSS	Hela-S3	cervix
30	chr8:87526400-87527800	Active TSS	Ovary	ovary
31	chr8:87526600-87527200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:87526600-87527200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:87526600-87527200	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr8:87526600-87527200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:87526600-87527200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr8:87526600-87527200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:87526600-87527200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:87526600-87527200	Active TSS	Duodenum Mucosa	Duodenum
39	chr8:87526600-87527200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr8:87526600-87527200	Active TSS	Fetal Muscle Trunk	muscle
41	chr8:87526600-87527200	Active TSS	Fetal Muscle Leg	muscle
42	chr8:87526600-87527200	Active TSS	Fetal Thymus	thymus
43	chr8:87526600-87527200	Active TSS	Thymus	Thymus
44	chr8:87526600-87527200	Active TSS	HMEC	breast
45	chr8:87526600-87527200	Active TSS	K562	blood
46	chr8:87526600-87527200	Active TSS	NH-A	brain
47	chr8:87526600-87527200	Active TSS	Osteobl	bone
48	chr8:87526600-87527400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:87526600-87527400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:87526600-87527400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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