Variant report

Variant	rs2341400
Chromosome Location	chr8:96103538-96103539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr8:96103447-96103813	GM12878	blood:	n/a	n/a
2	SPI1	chr8:96103451-96103658	K562	blood:	n/a	n/a
3	POLR2A	chr8:96103289-96103750	GM12891	blood:	n/a	n/a
4	EBF1	chr8:96103329-96104622	GM12878	blood:	n/a	chr8:96103665-96103676
5	TAL1	chr8:96103464-96103732	K562	blood:	n/a	n/a
6	RCOR1	chr8:96103475-96104389	K562	blood:	n/a	n/a
7	SPI1	chr8:96103419-96103729	GM12878	blood:	n/a	n/a
8	HEY1	chr8:96103317-96103681	K562	blood:	n/a	n/a
9	CUX1	chr8:96103455-96104518	GM12878	blood:	n/a	n/a
10	FOXM1	chr8:96103174-96104881	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:96103316-96103834	GM12892	blood:	n/a	n/a
12	JUND	chr8:96103367-96103810	K562	blood:	n/a	n/a
13	GTF2B	chr8:96103507-96103719	K562	blood:	n/a	n/a
14	EBF1	chr8:96103335-96103908	GM12878	blood:	n/a	chr8:96103665-96103676
15	YY1	chr8:96103323-96104135	GM12878	blood:	n/a	n/a
16	BRCA1	chr8:96103491-96103643	GM12878	blood:	n/a	n/a
17	PML	chr8:96101695-96104710	GM12878	blood:	n/a	chr8:96102328-96102336
18	POLR2A	chr8:96103296-96103833	GM12892	blood:	n/a	n/a
19	ATF2	chr8:96103241-96103917	GM12878	blood:	n/a	n/a
20	RFX5	chr8:96103535-96103744	GM12878	blood:	n/a	n/a
21	PAX5	chr8:96103448-96103938	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:96103336-96103849	K562	blood:	n/a	n/a
23	MTA3	chr8:96103290-96104088	GM12878	blood:	n/a	n/a
24	MEF2A	chr8:96103321-96103821	GM12878	blood:	n/a	n/a
25	WRNIP1	chr8:96103520-96103783	GM12878	blood:	n/a	n/a
26	ARID3A	chr8:96103446-96103806	K562	blood:	n/a	n/a
27	TBP	chr8:96103362-96103830	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:96101718-96104035	GM12878	blood:	n/a	n/a
29	MAZ	chr8:96103439-96103731	K562	blood:	n/a	n/a
30	EP300	chr8:96103451-96103986	K562	blood:	n/a	n/a
31	POLR2A	chr8:96103414-96103701	GM12878	blood:	n/a	n/a
32	EP300	chr8:96103374-96103712	GM12878	blood:	n/a	n/a
33	CHD1	chr8:96103353-96104402	GM12878	blood:	n/a	n/a
34	STAT3	chr8:96103509-96103864	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:96103333-96103677	K562	blood:	n/a	n/a
36	MXI1	chr8:96103420-96103901	GM12878	blood:	n/a	n/a
37	PML	chr8:96103406-96103790	GM12878	blood:	n/a	n/a
38	RELA	chr8:96103476-96104590	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:96101758-96103926	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:96103324-96103749	GM12891	blood:	n/a	n/a
41	TBP	chr8:96103371-96103738	K562	blood:	n/a	n/a
42	ZNF143	chr8:96103490-96103847	GM12878	blood:	n/a	n/a
43	ZBTB33	chr8:96103362-96103797	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:96103438-96103660	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:96101812-96103861	GM12878	blood:	n/a	n/a
46	CHD2	chr8:96103450-96103793	K562	blood:	n/a	n/a
47	MTA3	chr8:96101666-96104592	GM12878	blood:	n/a	n/a
48	TCF12	chr8:96103422-96103787	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:96103195-96103868	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:96101622-96104629	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96103364..96105237-chr8:96127596..96129406,2	MCF-7	breast:
2	chr8:96100209..96105308-chr8:96143573..96151809,12	K562	blood:
3	chr8:96102764..96105362-chr8:96180732..96183307,2	K562	blood:
4	chr8:96092840..96095684-chr8:96102296..96104588,4	K562	blood:
5	chr8:96095732..96098927-chr8:96100479..96105447,7	K562	blood:
6	chr8:96102152..96104618-chr8:96259174..96260844,2	K562	blood:
7	chr8:96102685..96105358-chr8:96146565..96148952,2	K562	blood:
8	chr8:96036531..96038925-chr8:96102648..96104628,2	K562	blood:
9	chr8:96078349..96080804-chr8:96101841..96104257,3	K562	blood:
10	chr8:96102212..96104143-chr8:96108955..96110574,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254248	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1000286	0.80[ASN][1000 genomes]
rs10091897	0.80[ASN][1000 genomes]
rs10093559	0.80[ASN][1000 genomes]
rs10096848	0.80[ASN][1000 genomes]
rs11774506	0.80[ASN][1000 genomes]
rs11776488	0.80[ASN][1000 genomes]
rs11777952	0.82[ASN][1000 genomes]
rs11778009	0.80[ASN][1000 genomes]
rs11781134	0.80[ASN][1000 genomes]
rs11781447	0.97[ASN][1000 genomes]
rs11782021	0.80[ASN][1000 genomes]
rs11784746	0.97[ASN][1000 genomes]
rs12543421	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548426	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248868	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251032	0.97[ASN][1000 genomes]
rs13251759	0.97[ASN][1000 genomes]
rs13273307	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274368	0.97[ASN][1000 genomes]
rs13276227	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1451711	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1451712	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917325	0.82[ASN][1000 genomes]
rs1946941	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1946943	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1946944	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2880033	0.82[ASN][1000 genomes]
rs34681252	0.80[ASN][1000 genomes]
rs34901613	1.00[ASN][1000 genomes]
rs4236831	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4321970	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4323439	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329243	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540384	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734298	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734299	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471513	0.84[AFR][1000 genomes]
rs6987762	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6992774	0.80[ASN][1000 genomes]
rs7008347	0.95[ASN][1000 genomes]
rs73262476	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96098800-96103800	Weak transcription	HepG2	liver
3	chr8:96100000-96104200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:96100400-96113600	Weak transcription	Lung	lung
6	chr8:96100600-96103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:96100600-96106800	Weak transcription	Spleen	Spleen
8	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:96100800-96104600	Weak transcription	Placenta	Placenta
10	chr8:96100800-96104800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:96100800-96107600	Weak transcription	Hela-S3	cervix
12	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:96101800-96104200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:96102000-96103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:96102000-96106600	Enhancers	Primary B cells from cord blood	blood
16	chr8:96102000-96107400	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:96102200-96103600	Enhancers	Fetal Thymus	thymus
18	chr8:96102400-96107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:96102800-96105600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:96102800-96105600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:96102800-96112000	Weak transcription	A549	lung
23	chr8:96103000-96104200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:96103000-96105600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96103000-96107400	Weak transcription	NH-A	brain
26	chr8:96103000-96108400	Weak transcription	HMEC	breast
27	chr8:96103000-96112000	Weak transcription	Osteobl	bone
28	chr8:96103200-96105600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:96103200-96107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:96103200-96108400	Weak transcription	NHEK	skin
31	chr8:96103200-96111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:96103400-96104200	Flanking Active TSS	GM12878-XiMat	blood
33	chr8:96103400-96104400	Flanking Active TSS	K562	blood

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