Variant report

Variant	rs4150978
Chromosome Location	chr8:86127697-86127698
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	POLR2A	chr8:86127607-86128157	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:86127380-86128003	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:86127673-86128101	K562	blood:	n/a	n/a
4	POLR2A	chr8:86127491-86128897	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:86125551-86129403	K562	blood:	n/a	n/a
6	POLR2A	chr8:86127560-86129035	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr8:86127557-86128061	K562	blood:	n/a	n/a
8	POLR2A	chr8:86127520-86128290	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:86127655-86128088	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:86127416-86128566	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:86127500-86128969	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:86125394..86127855-chr8:86131977..86134501,2	MCF-7	breast:
2	chr8:86089162..86091404-chr8:86126321..86127950,2	MCF-7	breast:
3	chr8:86119264..86121436-chr8:86127693..86129609,2	MCF-7	breast:

Variant related genes	Relation type
C8orf59	TF binding region
ENSG00000133740	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000185015	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs4150842	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150875	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150888	0.94[AFR][1000 genomes]
rs4150892	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4150899	0.94[AFR][1000 genomes]
rs55716338	0.87[AFR][1000 genomes]
rs56000993	0.87[AFR][1000 genomes]
rs56257706	0.88[AFR][1000 genomes]
rs56391532	0.87[AFR][1000 genomes]
rs56696632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910369	1.00[AMR][1000 genomes]
rs57413097	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060795	0.94[AFR][1000 genomes]
rs58078635	0.87[AFR][1000 genomes]
rs58532476	0.87[AFR][1000 genomes]
rs58547590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61315346	0.87[AFR][1000 genomes]
rs73688676	1.00[AMR][1000 genomes]
rs73688677	1.00[AMR][1000 genomes]
rs73688685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688687	0.87[AFR][1000 genomes]
rs73688689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688696	0.87[AFR][1000 genomes]
rs73688700	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691803	0.87[AFR][1000 genomes]
rs73691805	0.87[AFR][1000 genomes]
rs73691806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691808	0.87[AFR][1000 genomes]
rs73691810	0.87[AFR][1000 genomes]
rs73691811	0.87[AFR][1000 genomes]
rs73691812	0.87[AFR][1000 genomes]
rs73691814	0.87[AFR][1000 genomes]
rs73691815	0.87[AFR][1000 genomes]
rs73691817	0.87[AFR][1000 genomes]
rs73691820	0.87[AFR][1000 genomes]
rs73691824	0.87[AFR][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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
3	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
6	chr8:86101200-86131000	Weak transcription	HepG2	liver
7	chr8:86102600-86128200	Weak transcription	Fetal Brain Male	brain
8	chr8:86110400-86128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:86111000-86128000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:86113000-86127800	Weak transcription	Esophagus	oesophagus
11	chr8:86113200-86131200	Weak transcription	Fetal Heart	heart
12	chr8:86113400-86128000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:86113400-86132000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:86113600-86128000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:86114200-86131200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:86114400-86131200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:86114800-86130600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:86118800-86128200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:86119200-86131400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:86119400-86130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:86119400-86131200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:86120000-86127800	Weak transcription	Pancreas	Pancrea
23	chr8:86120200-86128000	Weak transcription	Ovary	ovary
24	chr8:86120200-86130800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:86120600-86131200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:86120800-86128200	Weak transcription	HSMM	muscle
27	chr8:86120800-86128800	Strong transcription	Brain Germinal Matrix	brain
28	chr8:86120800-86129000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr8:86120800-86131200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:86120800-86131200	Strong transcription	Fetal Thymus	thymus
31	chr8:86121000-86129000	Strong transcription	Fetal Muscle Leg	muscle
32	chr8:86121000-86129400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr8:86121000-86129600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:86121000-86130200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:86121000-86130400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:86121000-86131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:86121400-86128600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:86121400-86129000	Strong transcription	Fetal Intestine Large	intestine
39	chr8:86121400-86129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:86121400-86131000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:86121600-86132200	Weak transcription	Gastric	stomach
42	chr8:86121800-86127800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:86122000-86131800	Weak transcription	Right Atrium	heart
44	chr8:86122600-86128200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:86123200-86130800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:86123800-86129000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:86124000-86129400	Strong transcription	Liver	Liver
48	chr8:86124000-86129400	Strong transcription	GM12878-XiMat	blood
49	chr8:86124000-86129800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:86124000-86129800	Strong transcription	Duodenum Mucosa	Duodenum

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