Variant report

Variant	rs6887995
Chromosome Location	chr5:96268497-96268498
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	CHD1	chr5:96267264-96273025	GM12878	blood:	n/a	n/a
2	MXI1	chr5:96268043-96268863	GM12878	blood:	n/a	n/a
3	NR2F2	chr5:96268486-96268834	K562	blood:	n/a	n/a
4	IRF1	chr5:96268406-96268980	K562	blood:	n/a	n/a
5	CREB1	chr5:96268433-96268973	K562	blood:	n/a	n/a
6	RFX5	chr5:96268484-96268787	K562	blood:	n/a	n/a
7	POLR2A	chr5:96267158-96273083	GM12878	blood:	n/a	n/a
8	IRF1	chr5:96268293-96268911	K562	blood:	n/a	n/a
9	TBL1XR1	chr5:96268232-96268931	K562	blood:	n/a	n/a
10	JUN	chr5:96268257-96268844	K562	blood:	n/a	n/a
11	EP300	chr5:96268474-96268881	K562	blood:	n/a	chr5:96268688-96268697
12	ATF2	chr5:96268494-96269075	GM12878	blood:	n/a	n/a
13	NFIC	chr5:96266924-96269107	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:96268432-96268812	SK-N-MC	brain:	n/a	n/a
15	GATA2	chr5:96268385-96268970	K562	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
16	BCLAF1	chr5:96268132-96268856	GM12878	blood:	n/a	n/a
17	TEAD4	chr5:96268216-96268924	K562	blood:	n/a	n/a
18	GATA1	chr5:96267929-96269867	PBDE	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
19	PML	chr5:96266960-96273172	GM12878	blood:	n/a	n/a
20	STAT5A	chr5:96268494-96268924	K562	blood:	n/a	n/a
21	EP300	chr5:96267821-96269002	K562	blood:	n/a	chr5:96268688-96268697 chr5:96268042-96268056
22	STAT5A	chr5:96268425-96268939	K562	blood:	n/a	n/a
23	RUNX3	chr5:96268487-96268974	GM12878	blood:	n/a	n/a
24	TBP	chr5:96267257-96268993	GM12878	blood:	n/a	n/a
25	CEBPD	chr5:96268362-96268923	K562	blood:	n/a	chr5:96268747-96268758
26	BHLHE40	chr5:96268334-96268820	K562	blood:	n/a	n/a
27	GATA1	chr5:96267043-96269474	K562	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
28	SMARCA4	chr5:96268286-96268976	K562	blood:	n/a	n/a
29	MAFK	chr5:96268300-96268802	K562	blood:	n/a	n/a
30	ATF2	chr5:96268479-96268931	GM12878	blood:	n/a	n/a
31	JUND	chr5:96268428-96268926	K562	blood:	n/a	n/a
32	SMARCB1	chr5:96267865-96268980	K562	blood:	n/a	n/a
33	ARID3A	chr5:96268276-96268913	K562	blood:	n/a	n/a
34	TAL1	chr5:96268249-96268946	K562	blood:	n/a	n/a
35	CEBPB	chr5:96268486-96268948	K562	blood:	n/a	n/a
36	ZMIZ1	chr5:96268245-96268914	K562	blood:	n/a	n/a
37	ZNF384	chr5:96268346-96269097	K562	blood:	n/a	n/a
38	GATA2	chr5:96268481-96268839	K562	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
39	RCOR1	chr5:96268430-96269002	K562	blood:	n/a	n/a
40	TEAD4	chr5:96268186-96268982	K562	blood:	n/a	n/a
41	CUX1	chr5:96268155-96268880	K562	blood:	n/a	chr5:96268438-96268452
42	TRIM28	chr5:96268433-96268882	K562	blood:	n/a	n/a
43	PML	chr5:96268483-96268918	K562	blood:	n/a	n/a
44	RCOR1	chr5:96268455-96268867	K562	blood:	n/a	n/a
45	NR2F2	chr5:96268326-96268977	K562	blood:	n/a	n/a
46	CEBPD	chr5:96268179-96268984	K562	blood:	n/a	chr5:96268747-96268758
47	CEBPB	chr5:96268368-96268966	K562	blood:	n/a	n/a
48	PML	chr5:96268280-96268967	K562	blood:	n/a	n/a
49	MTA3	chr5:96268487-96273163	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96267069..96273023-chr5:96293959..96302488,9	K562	blood:
2	chr5:96260085..96262647-chr5:96266778..96268827,2	K562	blood:
3	chr5:96212164..96213676-chr5:96267339..96268943,2	MCF-7	breast:
4	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
5	chr5:96087767..96089736-chr5:96268436..96270992,2	MCF-7	breast:
6	chr5:96268127..96270774-chr5:96299213..96300719,2	K562	blood:
7	chr5:96268279..96270263-chr5:96284683..96286210,2	K562	blood:
8	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:

Variant related genes	Relation type
LNPEP	TF binding region
ENSG00000200884	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58788587	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active 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	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
2	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
4	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
5	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:96249800-96270000	Weak transcription	Lung	lung
8	chr5:96254000-96268600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:96257400-96269600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:96260200-96269000	Weak transcription	Fetal Stomach	stomach
11	chr5:96260200-96269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:96260600-96268600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:96264000-96269200	Enhancers	Fetal Heart	heart
14	chr5:96264400-96269000	Weak transcription	Fetal Brain Female	brain
15	chr5:96265000-96268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:96265000-96270000	Weak transcription	Pancreas	Pancrea
17	chr5:96265400-96270000	Weak transcription	Left Ventricle	heart
18	chr5:96266000-96269400	Enhancers	Placenta	Placenta
19	chr5:96266000-96269400	Weak transcription	Right Ventricle	heart
20	chr5:96266200-96268800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:96266200-96269000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:96266400-96268600	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:96266600-96269200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:96267000-96268800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:96267000-96269000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:96267000-96269600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:96267000-96269600	Enhancers	Fetal Lung	lung
28	chr5:96267200-96269000	Weak transcription	Psoas Muscle	Psoas
29	chr5:96267200-96269400	Enhancers	Adipose Nuclei	Adipose
30	chr5:96267400-96269200	Enhancers	Brain Anterior Caudate	brain
31	chr5:96267600-96268600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:96267600-96269200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr5:96267600-96269200	Weak transcription	Stomach Mucosa	stomach
34	chr5:96267600-96270400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:96267800-96268600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr5:96267800-96269200	Active TSS	Duodenum Mucosa	Duodenum
37	chr5:96267800-96269200	Enhancers	Fetal Intestine Large	intestine
38	chr5:96267800-96269400	Enhancers	HUVEC	blood vessel
39	chr5:96267800-96270000	Flanking Active TSS	Dnd41	blood
40	chr5:96267800-96270200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr5:96267800-96270400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr5:96267800-96270600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:96268000-96268800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:96268000-96269000	Weak transcription	Brain Germinal Matrix	brain
45	chr5:96268000-96269000	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:96268000-96269000	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:96268000-96269000	Weak transcription	HepG2	liver
48	chr5:96268000-96269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:96268000-96269200	Weak transcription	Right Atrium	heart
50	chr5:96268200-96268600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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