Variant report

Variant	rs7840653
Chromosome Location	chr8:61828910-61828911
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr8:61828866-61829546	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:61828857-61829683	GM15510	blood:	n/a	n/a
3	MAZ	chr8:61828838-61829602	GM12878	blood:	n/a	n/a
4	ATF2	chr8:61828593-61829680	GM12878	blood:	n/a	n/a
5	NFATC1	chr8:61828875-61829721	GM12878	blood:	n/a	n/a
6	RELA	chr8:61828749-61829771	GM18505	blood:	n/a	n/a
7	TBL1XR1	chr8:61828834-61829780	GM12878	blood:	n/a	n/a
8	NFIC	chr8:61828815-61829774	GM12878	blood:	n/a	n/a
9	CHD2	chr8:61828549-61829747	GM12878	blood:	n/a	n/a
10	NFIC	chr8:61828571-61829823	GM12878	blood:	n/a	n/a
11	SPI1	chr8:61828872-61829461	GM12891	blood:	n/a	n/a
12	POLR2A	chr8:61828906-61829825	Raji	blood:	n/a	n/a
13	STAT1	chr8:61828741-61829702	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:61828077-61829847	GM12878	blood:	n/a	n/a
15	EP300	chr8:61828844-61829524	GM12878	blood:	n/a	n/a
16	STAT5A	chr8:61828544-61829637	GM12878	blood:	n/a	n/a
17	NRF1	chr8:61828851-61829584	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:61828065-61829838	GM18505	blood:	n/a	n/a
19	BCLAF1	chr8:61828825-61829697	GM12878	blood:	n/a	n/a
20	MTA3	chr8:61828661-61829646	GM12878	blood:	n/a	n/a
21	MAX	chr8:61828904-61829557	GM12878	blood:	n/a	n/a
22	IRF4	chr8:61828877-61829640	GM12878	blood:	n/a	n/a
23	RCOR1	chr8:61828885-61829778	GM12878	blood:	n/a	n/a
24	ZNF143	chr8:61828746-61829478	GM12878	blood:	n/a	n/a
25	YY1	chr8:61828854-61829505	GM12878	blood:	n/a	n/a
26	TBP	chr8:61828868-61829743	GM12878	blood:	n/a	n/a
27	MEF2A	chr8:61828820-61829617	GM12878	blood:	n/a	n/a
28	SP1	chr8:61828860-61829567	GM12878	blood:	n/a	n/a
29	IRF4	chr8:61828847-61829588	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:61828771-61829610	GM12891	blood:	n/a	n/a
31	FOXM1	chr8:61828835-61829678	GM12878	blood:	n/a	n/a
32	ELK1	chr8:61828889-61829509	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:61827956-61829788	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:61828871-61829523	GM12891	blood:	n/a	n/a
35	USF2	chr8:61828665-61829705	GM12878	blood:	n/a	n/a
36	FOXM1	chr8:61828646-61829612	GM12878	blood:	n/a	n/a
37	WRNIP1	chr8:61828340-61829791	GM12878	blood:	n/a	n/a
38	SP1	chr8:61828898-61829537	GM12878	blood:	n/a	n/a
39	NFATC1	chr8:61828854-61829726	GM12878	blood:	n/a	n/a
40	POU2F2	chr8:61828902-61829575	GM12891	blood:	n/a	n/a
41	ZNF384	chr8:61828791-61829493	GM12878	blood:	n/a	n/a
42	BCLAF1	chr8:61828787-61829818	GM12878	blood:	n/a	n/a
43	RELA	chr8:61828612-61829753	GM10847	blood:	n/a	n/a
44	RUNX3	chr8:61828651-61829810	GM12878	blood:	n/a	n/a
45	SPI1	chr8:61828905-61829411	GM12891	blood:	n/a	n/a
46	POLR2A	chr8:61828211-61829699	GM12878	blood:	n/a	n/a
47	EBF1	chr8:61828880-61829748	GM12878	blood:	n/a	chr8:61829250-61829261
48	SPI1	chr8:61828554-61829665	GM12878	blood:	n/a	n/a
49	PAX5	chr8:61828855-61829654	GM12878	blood:	n/a	n/a
50	SMC3	chr8:61828896-61829601	GM12878	blood:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10957168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780935	0.97[ASN][1000 genomes]
rs11783902	0.97[ASN][1000 genomes]
rs11784276	0.96[ASN][1000 genomes]
rs11784344	0.96[ASN][1000 genomes]
rs11784761	0.97[ASN][1000 genomes]
rs11787017	0.96[ASN][1000 genomes]
rs12549487	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926569	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16926586	0.92[CEU][hapmap]
rs4314681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738842	0.86[JPT][hapmap]
rs61448706	0.96[ASN][1000 genomes]
rs62525899	0.97[ASN][1000 genomes]
rs62525901	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993866	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994028	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652539	0.94[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:40 , 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	chr8:61825800-61829400	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:61826000-61829400	Enhancers	Primary B cells from cord blood	blood
15	chr8:61826000-61832800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:61826000-61833000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:61826200-61829000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:61826400-61830600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:61826400-61832400	Enhancers	Primary T cells from cord blood	blood
20	chr8:61826400-61833200	Weak transcription	Brain Anterior Caudate	brain
21	chr8:61826600-61829400	Weak transcription	Thymus	Thymus
22	chr8:61826600-61830400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:61826600-61835200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:61826800-61829000	Weak transcription	Stomach Mucosa	stomach
25	chr8:61827400-61829200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:61827600-61829800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr8:61827800-61829800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:61827800-61832400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:61827800-61834400	Weak transcription	Colonic Mucosa	Colon
30	chr8:61828000-61829800	Flanking Active TSS	GM12878-XiMat	blood
31	chr8:61828000-61830400	Weak transcription	Fetal Intestine Small	intestine
32	chr8:61828200-61829800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:61828400-61830600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:61828400-61835600	Weak transcription	Spleen	Spleen
35	chr8:61828600-61829400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr8:61828600-61829800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:61828600-61831000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:61828800-61829000	Enhancers	Fetal Muscle Leg	muscle
39	chr8:61828800-61829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:61828800-61829600	Enhancers	Duodenum Mucosa	Duodenum

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