Variant report

Variant	rs524678
Chromosome Location	chr8:95964004-95964005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95963951-95964394	H1-neurons	neurons:	n/a	n/a
2	GATA3	chr8:95963305-95964134	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:95961364-95964241	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:95961408-95964161	GM12891	blood:	n/a	n/a
5	EP300	chr8:95961362-95964115	SK-N-SH	brain:	n/a	chr8:95963765-95963775 chr8:95961887-95961903
6	POLR2A	chr8:95963244-95964071	K562	blood:	n/a	n/a
7	POLR2A	chr8:95963905-95964352	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr8:95961365-95964674	HepG2	liver:	n/a	n/a
9	ZNF263	chr8:95963264-95964626	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr8:95961394-95964301	HepG2	liver:	n/a	n/a
11	MXI1	chr8:95958903-95964905	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:
2	chr8:95907370..95909639-chr8:95961818..95964122,3	MCF-7	breast:
3	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
4	chr8:95908275..95911187-chr8:95962763..95964938,2	K562	blood:
5	chr8:95962646..95965102-chr8:96032516..96035099,2	MCF-7	breast:
6	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
7	chr8:95961511..95965084-chr8:95968441..95972141,5	K562	blood:

No data

Variant related genes	Relation type
TP53INP1	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2123646	0.81[YRI][hapmap];0.87[AFR][1000 genomes]
rs493506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494297	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs551270	0.81[YRI][hapmap]
rs7760	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95962000-95964200	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr8:95962000-95964400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:95962200-95977800	Weak transcription	Hela-S3	cervix
4	chr8:95962400-95964200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:95962400-95971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:95962600-95964200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:95962600-95970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:95962800-95964200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:95962800-95964200	Enhancers	K562	blood
10	chr8:95962800-95964400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:95962800-95964600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:95962800-95964600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:95962800-95964600	Enhancers	Lung	lung
14	chr8:95962800-95964800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:95962800-95964800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95962800-95964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:95962800-95964800	Enhancers	Brain Angular Gyrus	brain
18	chr8:95962800-95969400	Weak transcription	Dnd41	blood
19	chr8:95962800-95972400	Weak transcription	Aorta	Aorta
20	chr8:95962800-95974200	Weak transcription	Gastric	stomach
21	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
22	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:95962800-95980200	Weak transcription	Ovary	ovary
25	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95963000-95964200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:95963000-95964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:95963000-95964400	Enhancers	Osteobl	bone
29	chr8:95963000-95964600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:95963000-95964600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:95963000-95964600	Enhancers	Brain Substantia Nigra	brain
32	chr8:95963000-95964800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:95963000-95964800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:95963000-95964800	Enhancers	Fetal Kidney	kidney
35	chr8:95963000-95964800	Enhancers	Stomach Mucosa	stomach
36	chr8:95963000-95965200	Enhancers	Fetal Thymus	thymus
37	chr8:95963000-95966000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:95963000-95970000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:95963000-95971200	Weak transcription	Fetal Intestine Small	intestine
40	chr8:95963000-95971400	Weak transcription	Primary B cells from cord blood	blood
41	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
42	chr8:95963000-95980400	Weak transcription	HSMM	muscle
43	chr8:95963200-95964400	Enhancers	Fetal Heart	heart
44	chr8:95963200-95964400	Enhancers	HSMMtube	muscle
45	chr8:95963200-95964600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:95963200-95964600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:95963200-95964600	Enhancers	NH-A	brain
48	chr8:95963200-95964800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:95963400-95964200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:95963400-95964200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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