Variant report

Variant	rs34836224
Chromosome Location	chr8:100020103-100020104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100019090..100021113-chr8:100023467..100025831,2	K562	blood:
2	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
3	chr8:99956252..99958234-chr8:100019639..100022057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271930	Chromatin interaction
ENSG00000132549	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10087533	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10088152	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10091793	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10092190	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10096925	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10098153	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10104826	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10106041	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10108567	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109066	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808363	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10955197	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955202	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11786078	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547301	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547849	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550128	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12680054	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13256012	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13277925	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28886569	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2922070	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019296	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34211616	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35018432	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4131359	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4133425	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4236854	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4260868	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4307310	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4317539	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4319053	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4327836	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4394363	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4428646	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4455798	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4461878	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4481561	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4489303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520132	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4552872	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734421	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735603	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735604	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4735607	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55691643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55837765	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55871624	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56315283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60950457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60967421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6415433	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468647	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468659	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468663	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468665	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468669	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468671	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6468675	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989201	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6990741	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991283	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991585	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6992480	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993878	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6997225	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7006391	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007494	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7011648	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7011936	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7016044	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7016304	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7017261	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72668476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72668483	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670294	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72670297	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670301	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72672309	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72672313	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7341605	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7460376	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7461275	0.86[AMR][1000 genomes]
rs7462457	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815414	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7818051	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835084	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7836899	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7842393	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297289	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9642956	0.85[ASN][1000 genomes]
rs9642958	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv967620	chr8:100013130-100021334	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34836224	ARHGEF12	trans	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99987200-100024200	Weak transcription	Osteobl	bone
2	chr8:100003400-100023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100006600-100024000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:100007000-100023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100007000-100024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100007200-100023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:100007200-100023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:100007200-100024000	Weak transcription	Ovary	ovary
9	chr8:100007200-100024400	Weak transcription	Aorta	Aorta
10	chr8:100008600-100021800	Weak transcription	NHDF-Ad	bronchial
11	chr8:100008600-100024000	Weak transcription	NHLF	lung
12	chr8:100008800-100022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:100012000-100023000	Weak transcription	Liver	Liver
14	chr8:100012000-100023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:100012200-100023800	Weak transcription	HSMM	muscle
16	chr8:100012400-100023400	Weak transcription	Fetal Lung	lung
17	chr8:100014200-100023000	Weak transcription	Primary B cells from cord blood	blood
18	chr8:100014400-100024200	Weak transcription	Small Intestine	intestine
19	chr8:100014800-100021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:100014800-100024200	Weak transcription	Psoas Muscle	Psoas
21	chr8:100015000-100022000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:100015000-100022200	Weak transcription	Adipose Nuclei	Adipose
23	chr8:100015000-100023200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:100015000-100023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:100015000-100023800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:100015000-100024000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:100015000-100024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:100015000-100024200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:100015200-100022200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:100015200-100022200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:100015200-100022200	Weak transcription	Right Atrium	heart
32	chr8:100015200-100023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:100015200-100023200	Weak transcription	Primary T cells from cord blood	blood
34	chr8:100015200-100023200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:100015200-100024000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:100015200-100024000	Weak transcription	Fetal Thymus	thymus
37	chr8:100015200-100024000	Weak transcription	Right Ventricle	heart
38	chr8:100015200-100024200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:100015200-100024200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:100015200-100024200	Weak transcription	Placenta	Placenta
41	chr8:100015200-100024200	Weak transcription	Lung	lung
42	chr8:100015200-100024200	Weak transcription	Pancreas	Pancrea
43	chr8:100015200-100024200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:100015200-100024800	Weak transcription	Spleen	Spleen
45	chr8:100015400-100021800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:100015400-100024000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:100015400-100024000	Weak transcription	Left Ventricle	heart
48	chr8:100015400-100024200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:100015400-100024200	Weak transcription	Fetal Kidney	kidney
50	chr8:100015400-100024200	Weak transcription	Thymus	Thymus

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