Variant report

Variant	rs73691191
Chromosome Location	chr8:67967371-67967372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:67967245-67967651	K562	blood:	n/a	n/a
2	HDAC2	chr8:67967243-67967674	K562	blood:	n/a	n/a
3	JUN	chr8:67967134-67967635	K562	blood:	n/a	n/a
4	NR2F2	chr8:67967187-67967725	K562	blood:	n/a	n/a
5	GATA1	chr8:67967320-67967666	K562	blood:	n/a	n/a
6	POLR2A	chr8:67967128-67967684	K562	blood:	n/a	n/a
7	GATA2	chr8:67967250-67967756	K562	blood:	n/a	n/a
8	ATF1	chr8:67967277-67967735	K562	blood:	n/a	n/a
9	MAX	chr8:67967100-67967621	K562	blood:	n/a	n/a
10	CBX3	chr8:67967076-67967783	K562	blood:	n/a	n/a
11	ARID3A	chr8:67967293-67967681	K562	blood:	n/a	n/a
12	MYC	chr8:67967156-67967759	K562	blood:	n/a	n/a
13	EP300	chr8:67967296-67967636	K562	blood:	n/a	n/a
14	YY1	chr8:67967252-67967527	K562	blood:	n/a	n/a
15	MAZ	chr8:67967194-67967626	K562	blood:	n/a	n/a
16	CEBPD	chr8:67967234-67967841	K562	blood:	n/a	n/a
17	ZMIZ1	chr8:67967262-67967692	K562	blood:	n/a	n/a
18	RCOR1	chr8:67967253-67967747	K562	blood:	n/a	n/a
19	MYC	chr8:67967307-67967640	K562	blood:	n/a	n/a
20	MYC	chr8:67967214-67967695	K562	blood:	n/a	n/a
21	RCOR1	chr8:67967225-67967758	K562	blood:	n/a	n/a
22	STAT5A	chr8:67967069-67967762	K562	blood:	n/a	n/a
23	SPI1	chr8:67967271-67967661	K562	blood:	n/a	n/a
24	GATA2	chr8:67967078-67967747	K562	blood:	n/a	n/a
25	GABPA	chr8:67967182-67967640	K562	blood:	n/a	n/a
26	YY1	chr8:67967260-67967600	K562	blood:	n/a	n/a
27	CEBPB	chr8:67967211-67967615	K562	blood:	n/a	n/a
28	TEAD4	chr8:67966902-67967806	K562	blood:	n/a	n/a
29	EP300	chr8:67967235-67967766	K562	blood:	n/a	n/a
30	CREB1	chr8:67967124-67967707	K562	blood:	n/a	n/a
31	BHLHE40	chr8:67967229-67967703	K562	blood:	n/a	n/a
32	HDAC2	chr8:67967230-67967635	K562	blood:	n/a	n/a
33	TAL1	chr8:67967047-67967763	K562	blood:	n/a	n/a
34	TRIM28	chr8:67967107-67967807	K562	blood:	n/a	n/a
35	POLR2A	chr8:67967230-67967678	K562	blood:	n/a	n/a
36	SPI1	chr8:67967305-67967480	K562	blood:	n/a	n/a
37	TRIM28	chr8:67967201-67967624	K562	blood:	n/a	n/a
38	PML	chr8:67967134-67967796	K562	blood:	n/a	n/a
39	TEAD4	chr8:67967130-67967758	K562	blood:	n/a	n/a
40	TBL1XR1	chr8:67967283-67967669	K562	blood:	n/a	n/a
41	JUND	chr8:67967227-67967675	K562	blood:	n/a	n/a
42	UBTF	chr8:67967350-67967717	K562	blood:	n/a	n/a
43	NR2F2	chr8:67967145-67967783	K562	blood:	n/a	n/a
44	STAT5A	chr8:67967132-67967750	K562	blood:	n/a	n/a
45	GATA1	chr8:67967240-67967777	PBDE	blood:	n/a	n/a
46	POLR2A	chr8:67967266-67967614	K562	blood:	n/a	n/a
47	GATA2	chr8:67967247-67967716	K562	blood:	n/a	n/a
48	ZNF274	chr8:67967285-67967813	K562	blood:	n/a	n/a
49	POLR2A	chr8:67967206-67967715	K562	blood:	n/a	n/a
50	MAX	chr8:67967210-67967460	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67949845..67951447-chr8:67966001..67968667,2	K562	blood:
2	chr8:67865871..67867928-chr8:67966738..67968442,2	K562	blood:
3	chr8:67827975..67841001-chr8:67966279..67982243,48	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266491	TF binding region
ENSG00000245910	Chromatin interaction
ENSG00000261787	Chromatin interaction
ENSG00000254341	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1138476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988175	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992626	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466283	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933065	1.00[ASN][1000 genomes]
rs16933071	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933097	1.00[ASN][1000 genomes]
rs16933148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377622	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55908039	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55993413	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56041142	1.00[ASN][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56717011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530222	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624770	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60964596	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61552467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004549	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691161	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693117	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693129	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7816746	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7831052	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
3	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
7	chr8:67953600-67971400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:67953600-67971600	Strong transcription	Liver	Liver
9	chr8:67953600-67971800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:67953600-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:67953600-67972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:67953800-67971600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:67953800-67971800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:67953800-67971800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:67953800-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:67953800-67972200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:67953800-67972200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr8:67953800-67972400	Strong transcription	Placenta	Placenta
19	chr8:67953800-67972800	Strong transcription	Fetal Thymus	thymus
20	chr8:67954000-67971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:67954000-67971800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:67954000-67972200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:67954200-67971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:67954200-67972400	Strong transcription	Fetal Lung	lung
25	chr8:67954400-67970600	Strong transcription	Brain Anterior Caudate	brain
26	chr8:67954400-67971400	Strong transcription	Dnd41	blood
27	chr8:67954400-67971600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:67954400-67971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:67954400-67972200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:67954400-67972400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:67954600-67971200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:67954600-67971400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:67954600-67971400	Strong transcription	Brain Cingulate Gyrus	brain
34	chr8:67954600-67972000	Strong transcription	Adipose Nuclei	Adipose
35	chr8:67954600-67972400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:67954600-67972600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:67954800-67971600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:67954800-67971600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:67954800-67971800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:67954800-67972000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:67954800-67972600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:67954800-67972600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:67955400-67971600	Strong transcription	HMEC	breast
44	chr8:67956000-67971800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:67956000-67972000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:67956000-67972600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:67956000-67972800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr8:67956200-67972600	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:67956400-67971800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr8:67956600-67971600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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