Variant report

Variant	rs6995838
Chromosome Location	chr8:117779875-117779876
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	chr8:117778312-117780438	GM12878	blood:	n/a	n/a
2	MAX	chr8:117777983-117779941	HCT-116	colon:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
3	SIN3AK20	chr8:117777881-117780032	MCF-7	breast:	n/a	n/a
4	CTCF	chr8:117777773-117779942	A549	lung:	n/a	chr8:117778564-117778580
5	SIN3A	chr8:117778378-117779906	H1-hESC	embryonic stem cell:	n/a	chr8:117779140-117779149
6	MAX	chr8:117777842-117779884	HCT-116	colon:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
7	MAX	chr8:117777815-117779896	MCF-7	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
8	NR2F2	chr8:117778161-117780072	K562	blood:	n/a	n/a
9	POLR2A	chr8:117777928-117779997	HL-60	blood:	n/a	n/a
10	MXI1	chr8:117777838-117780600	SK-N-SH	brain:	n/a	chr8:117779140-117779149
11	GABPA	chr8:117777652-117779900	MCF-7	breast:	n/a	chr8:117778553-117778567 chr8:117778556-117778567 chr8:117778556-117778565 chr8:117779136-117779145
12	POLR2A	chr8:117777960-117780365	GM12891	blood:	n/a	n/a
13	MYC	chr8:117778312-117780308	MCF10A-Er-Src	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
14	MXI1	chr8:117777830-117780660	IMR90	lung:	n/a	chr8:117779140-117779149
15	POLR2A	chr8:117779872-117780279	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:117777791-117779920	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr8:117778122-117780802	MCF10A-Er-Src	breast:	n/a	n/a
18	HCFC1	chr8:117777786-117780018	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr8:117778161-117780030	MCF-7	breast:	n/a	n/a
20	MYC	chr8:117778293-117780198	MCF10A-Er-Src	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
21	MAX	chr8:117777824-117779964	MCF-7	breast:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
22	MYC	chr8:117777889-117779906	K562	blood:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240

No.	Distal block	Cell Line	Cell type
1	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
2	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:
3	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

Variant related genes	Relation type
EIF3H	TF binding region
UTP23	TF binding region
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10089833	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104144	0.84[EUR][1000 genomes]
rs10111411	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10156225	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10283122	0.82[EUR][1000 genomes]
rs10808483	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10808485	0.80[EUR][1000 genomes]
rs11775890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11779352	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12155774	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12375316	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257365	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13260809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264928	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28431802	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34007155	0.86[AMR][1000 genomes]
rs35792844	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129066	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4304349	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4344109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4372028	0.83[EUR][1000 genomes]
rs4406425	0.87[AMR][1000 genomes]
rs4449824	0.82[EUR][1000 genomes]
rs4637871	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876673	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876677	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876678	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62510182	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983034	0.81[EUR][1000 genomes]
rs6995719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7004009	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011256	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9792358	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117777800-117780000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:117778000-117780000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:117778000-117780400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:117778000-117780600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:117778200-117780000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:117778200-117780000	Active TSS	NHLF	lung
7	chr8:117778200-117780200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:117778200-117780400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:117778400-117780200	Active TSS	GM12878-XiMat	blood
10	chr8:117778800-117780400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr8:117779000-117780000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr8:117779000-117780000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr8:117779000-117780400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr8:117779000-117780400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr8:117779000-117780400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr8:117779200-117780000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:117779200-117780000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr8:117779200-117780000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:117779200-117780000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:117779200-117780000	Flanking Active TSS	Liver	Liver
21	chr8:117779200-117780000	Flanking Active TSS	Thymus	Thymus
22	chr8:117779200-117780000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:117779200-117780000	Flanking Active TSS	Osteobl	bone
24	chr8:117779200-117780200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr8:117779200-117780200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr8:117779200-117780400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:117779200-117780400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr8:117779200-117780400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:117779200-117780400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:117779200-117780400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr8:117779200-117780400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr8:117779200-117780400	Flanking Active TSS	Fetal Lung	lung
33	chr8:117779400-117780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:117779400-117780000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:117779400-117780000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:117779400-117780000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:117779400-117780000	Flanking Active TSS	Fetal Brain Male	brain
38	chr8:117779400-117780000	Flanking Active TSS	Fetal Kidney	kidney
39	chr8:117779400-117780000	Flanking Active TSS	Fetal Stomach	stomach
40	chr8:117779400-117780000	Flanking Active TSS	Right Ventricle	heart
41	chr8:117779400-117780000	Flanking Active TSS	HUVEC	blood vessel
42	chr8:117779400-117780200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr8:117779400-117780200	Flanking Active TSS	Fetal Brain Female	brain
44	chr8:117779400-117780200	Flanking Active TSS	NH-A	brain
45	chr8:117779400-117780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:117779400-117780400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:117779400-117780400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:117779400-117780400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr8:117779400-117780400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:117779400-117780400	Flanking Active TSS	Brain Angular Gyrus	brain

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