Variant report

Variant	rs28415696
Chromosome Location	chr8:61821191-61821192
allele	C/T
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	TCF3	chr8:61821124-61821560	GM12878	blood:	n/a	n/a
2	MAX	chr8:61821157-61821713	ECC-1	luminal epithelium:	n/a	n/a
3	RELA	chr8:61820909-61822664	GM18505	blood:	n/a	n/a
4	FOXM1	chr8:61821102-61822782	GM12878	blood:	n/a	n/a
5	RELA	chr8:61821079-61822731	GM12891	blood:	n/a	n/a
6	RELA	chr8:61821146-61822670	GM19099	blood:	n/a	n/a
7	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
8	EBF1	chr8:61821184-61821647	GM12878	blood:	n/a	n/a
9	MAX	chr8:61821168-61821800	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr8:61821191-61822651	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:61821153-61823143	GM19193	blood:	n/a	n/a
13	POLR2A	chr8:61821190-61823452	GM12891	blood:	n/a	n/a
14	NFIC	chr8:61821149-61823508	GM12878	blood:	n/a	chr8:61821884-61821912
15	PML	chr8:61820983-61823483	GM12878	blood:	n/a	n/a
16	RELA	chr8:61820982-61822621	GM10847	blood:	n/a	n/a
17	RUNX3	chr8:61821155-61823486	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:61821020-61826441	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:61821188-61821703	GM12892	blood:	n/a	n/a
20	POLR2A	chr8:61821131-61826508	GM18505	blood:	n/a	n/a
21	E2F6	chr8:61821149-61821698	H1-hESC	embryonic stem cell:	n/a	n/a
22	STAT5A	chr8:61821023-61821869	GM12878	blood:	n/a	chr8:61821301-61821312
23	POLR2A	chr8:61821133-61823463	GM12891	blood:	n/a	n/a
24	POLR2A	chr8:61820956-61825737	GM12878	blood:	n/a	n/a
25	NFIC	chr8:61821088-61822701	GM12878	blood:	n/a	chr8:61821884-61821912
26	EP300	chr8:61820948-61822789	GM12878	blood:	n/a	chr8:61822389-61822398
27	POU2F2	chr8:61821103-61821644	GM12878	blood:	n/a	n/a
28	JUN	chr8:61821191-61822218	K562	blood:	n/a	chr8:61821719-61821727 chr8:61821717-61821729

Variant related genes	Relation type
ENSG00000254777	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10156284	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10957167	0.85[ASN][1000 genomes]
rs35283678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4370573	0.85[ASN][1000 genomes]
rs7009473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
2	chr8:61816800-61821200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:61816800-61821200	Weak transcription	Colonic Mucosa	Colon
4	chr8:61816800-61821200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:61816800-61821200	Weak transcription	NH-A	brain
6	chr8:61816800-61821400	Weak transcription	Osteobl	bone
7	chr8:61817000-61821200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:61817000-61821200	Weak transcription	HSMM	muscle
9	chr8:61817000-61821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:61817200-61821200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61817200-61821200	Weak transcription	Fetal Lung	lung
12	chr8:61817800-61821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:61818800-61821200	Weak transcription	Pancreas	Pancrea
14	chr8:61819000-61822000	Weak transcription	Lung	lung
15	chr8:61819000-61822200	Weak transcription	Gastric	stomach
16	chr8:61819400-61821200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:61820000-61821400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:61820200-61821200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:61820200-61821400	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:61820200-61821800	Enhancers	Stomach Mucosa	stomach
21	chr8:61820400-61821400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:61820400-61821800	Enhancers	Fetal Thymus	thymus
23	chr8:61820600-61821200	Enhancers	Small Intestine	intestine
24	chr8:61820800-61821200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:61820800-61821200	Enhancers	Brain Substantia Nigra	brain
26	chr8:61820800-61821200	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:61820800-61821200	Enhancers	Fetal Intestine Large	intestine
28	chr8:61820800-61821200	Enhancers	Fetal Intestine Small	intestine
29	chr8:61820800-61821400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:61820800-61821400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:61820800-61821400	Enhancers	HUVEC	blood vessel
32	chr8:61820800-61821600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:61820800-61821600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:61820800-61821600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:61820800-61822000	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:61821000-61821200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr8:61821000-61821200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr8:61821000-61821200	Enhancers	Adipose Nuclei	Adipose
40	chr8:61821000-61821200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:61821000-61821400	Enhancers	Brain Hippocampus Middle	brain
42	chr8:61821000-61821400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr8:61821000-61821600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:61821000-61821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:61821000-61821600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:61821000-61821600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:61821000-61821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:61821000-61821600	Enhancers	Thymus	Thymus
49	chr8:61821000-61821800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:61821000-61821800	Enhancers	Fetal Muscle Leg	muscle

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