Variant report

Variant	rs6991974
Chromosome Location	chr8:68124170-68124171
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	chr8:68124133-68124225	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARFGEF1	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10504399	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557200	0.90[EUR][1000 genomes]
rs11986053	1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[EUR][1000 genomes]
rs11986982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988465	0.90[EUR][1000 genomes]
rs11992605	0.90[EUR][1000 genomes]
rs11997404	0.94[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12114202	0.90[EUR][1000 genomes]
rs16919053	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933138	0.90[EUR][1000 genomes]
rs16933139	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs16933147	0.90[EUR][1000 genomes]
rs16933160	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16933162	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933170	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933173	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933182	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933190	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933204	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16933214	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808140	1.00[JPT][hapmap]
rs2168542	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2290585	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290586	1.00[JPT][hapmap]
rs2305672	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305673	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3780131	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364616	1.00[JPT][hapmap]
rs55662680	0.90[EUR][1000 genomes]
rs55737416	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745066	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55865037	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55983978	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986624	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101466	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56858183	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57101332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57867847	0.90[EUR][1000 genomes]
rs58448590	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58715460	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59335949	0.90[EUR][1000 genomes]
rs59634730	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59870074	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324950	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894518	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61193782	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984568	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs6984597	1.00[JPT][hapmap]
rs6987597	0.90[EUR][1000 genomes]
rs6987624	0.90[EUR][1000 genomes]
rs6988547	1.00[JPT][hapmap]
rs6990298	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs6998170	1.00[JPT][hapmap]
rs7000650	1.00[JPT][hapmap]
rs7003018	1.00[JPT][hapmap]
rs7008877	1.00[JPT][hapmap]
rs7009678	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs73691182	0.90[EUR][1000 genomes]
rs73691185	0.90[EUR][1000 genomes]
rs73691186	0.90[EUR][1000 genomes]
rs73691192	0.90[EUR][1000 genomes]
rs73691193	0.90[EUR][1000 genomes]
rs73693124	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73693135	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461383	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7812425	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7812510	0.87[EUR][1000 genomes]
rs7816827	0.90[EUR][1000 genomes]
rs7819894	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7819895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7822754	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824775	0.90[EUR][1000 genomes]
rs7828748	1.00[JPT][hapmap]
rs7831052	1.00[CEU][hapmap]
rs7833373	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7833956	1.00[JPT][hapmap]
rs7834516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841884	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs7846677	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
3	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:68097400-68133600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:68100800-68152600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:68101200-68130800	Strong transcription	Dnd41	blood
5	chr8:68101200-68144200	Strong transcription	Liver	Liver
6	chr8:68101200-68144800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:68102400-68131400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:68102600-68125000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:68102800-68130800	Strong transcription	Fetal Muscle Leg	muscle
10	chr8:68102800-68131400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr8:68103000-68124800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:68103000-68140600	Strong transcription	Fetal Intestine Large	intestine
13	chr8:68103000-68151400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:68103400-68130400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:68103600-68139600	Strong transcription	Primary T cells from cord blood	blood
16	chr8:68103600-68158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:68104600-68142400	Strong transcription	Adipose Nuclei	Adipose
18	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:68104800-68125000	Strong transcription	HSMMtube	muscle
21	chr8:68104800-68130400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:68104800-68136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:68104800-68151200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:68104800-68152000	Strong transcription	Fetal Thymus	thymus
25	chr8:68104800-68159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:68105000-68133600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:68105000-68140000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:68105000-68140600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:68105200-68133400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:68105200-68133400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr8:68105400-68131200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:68105600-68158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:68106600-68134200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:68106600-68140600	Strong transcription	Placenta	Placenta
37	chr8:68106800-68125000	Strong transcription	Fetal Brain Female	brain
38	chr8:68106800-68128600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr8:68107200-68131800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:68107200-68139800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:68107600-68125000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:68107800-68125200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:68107800-68133600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:68109000-68128600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:68109000-68129000	Strong transcription	Left Ventricle	heart
46	chr8:68109000-68131000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:68110400-68130400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr8:68110600-68141400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:68110800-68128000	Strong transcription	Lung	lung
50	chr8:68110800-68128000	Strong transcription	Thymus	Thymus

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