Variant report

Variant	rs4123861
Chromosome Location	chr8:61828056-61828057
allele	C/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	chr8:61827956-61829788	GM12878	blood:	n/a	n/a
2	NRF1	chr8:61828039-61828519	GM12878	blood:	n/a	n/a
3	MTA3	chr8:61828046-61829833	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61821354..61824563-chr8:61827289..61829663,3	K562	blood:

Variant related genes	Relation type
ENSG00000254777	TF binding region
ENSG00000254777	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504321	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12680914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926582	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4609230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55792263	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55832112	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57065489	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58187777	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58610284	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59503990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61356857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61525594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7819622	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61823000-61830800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:61823000-61834800	Weak transcription	Pancreas	Pancrea
3	chr8:61823200-61830400	Enhancers	Fetal Thymus	thymus
4	chr8:61823200-61831200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr8:61823400-61830400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:61823400-61830800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:61823400-61831400	Weak transcription	Fetal Heart	heart
8	chr8:61824800-61830800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:61825000-61830600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:61825000-61830600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:61825400-61829800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:61825400-61833200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:61825600-61828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:61825800-61828200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:61825800-61829400	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:61826000-61829400	Enhancers	Primary B cells from cord blood	blood
17	chr8:61826000-61832800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:61826000-61833000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:61826200-61828800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:61826200-61829000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:61826400-61828800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:61826400-61830600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:61826400-61832400	Enhancers	Primary T cells from cord blood	blood
24	chr8:61826400-61833200	Weak transcription	Brain Anterior Caudate	brain
25	chr8:61826600-61828600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:61826600-61829400	Weak transcription	Thymus	Thymus
27	chr8:61826600-61830400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr8:61826600-61835200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:61826800-61828600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:61826800-61829000	Weak transcription	Stomach Mucosa	stomach
31	chr8:61827400-61829200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:61827600-61828400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:61827600-61828400	Enhancers	Spleen	Spleen
34	chr8:61827600-61829800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:61827800-61829800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:61827800-61832400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:61827800-61834400	Weak transcription	Colonic Mucosa	Colon
38	chr8:61828000-61829800	Flanking Active TSS	GM12878-XiMat	blood
39	chr8:61828000-61830400	Weak transcription	Fetal Intestine Small	intestine

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