Variant report

Variant	rs73297116
Chromosome Location	chr8:105598085-105598086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr8:105597886-105598434	GM12878	blood:	n/a	n/a
2	ZNF384	chr8:105598070-105598516	K562	blood:	n/a	n/a
3	FOXA1	chr8:105597797-105598195	HepG2	liver:	n/a	n/a
4	WRNIP1	chr8:105597986-105598339	GM12878	blood:	n/a	n/a
5	BCL11A	chr8:105597888-105598372	GM12878	blood:	n/a	n/a
6	RCOR1	chr8:105597901-105598480	K562	blood:	n/a	n/a
7	CHD2	chr8:105597740-105598414	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:105597925-105599273	GM12878	blood:	n/a	n/a
9	RELA	chr8:105597869-105598959	GM12878	blood:	n/a	n/a
10	NFATC1	chr8:105597832-105598451	GM12878	blood:	n/a	n/a
11	MEF2A	chr8:105597951-105598425	GM12878	blood:	n/a	n/a
12	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
13	NFIC	chr8:105597720-105598481	GM12878	blood:	n/a	n/a
14	BACH1	chr8:105598034-105598343	K562	blood:	n/a	n/a
15	STAT3	chr8:105598047-105598223	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFF	chr8:105597863-105598402	K562	blood:	n/a	n/a
17	JUN	chr8:105598047-105598427	K562	blood:	n/a	n/a
18	IRF1	chr8:105597881-105599148	K562	blood:	n/a	chr8:105598637-105598646
19	SMC3	chr8:105598028-105598107	K562	blood:	n/a	n/a
20	POLR2A	chr8:105598025-105598224	GM12878	blood:	n/a	n/a
21	SP1	chr8:105598005-105598398	GM12878	blood:	n/a	n/a
22	FOXA2	chr8:105597697-105598282	A549	lung:	n/a	n/a
23	IRF1	chr8:105597838-105598650	K562	blood:	n/a	chr8:105598637-105598646
24	EP300	chr8:105597756-105598303	A549	lung:	n/a	n/a
25	FOXA1	chr8:105597794-105598142	HepG2	liver:	n/a	n/a
26	FOXA1	chr8:105597808-105598223	HepG2	liver:	n/a	n/a
27	RCOR1	chr8:105597916-105598454	K562	blood:	n/a	n/a
28	TBL1XR1	chr8:105597909-105598736	K562	blood:	n/a	n/a
29	NR2F2	chr8:105597896-105598580	K562	blood:	n/a	n/a
30	POLR2A	chr8:105597907-105598464	GM12878	blood:	n/a	n/a
31	E2F4	chr8:105598031-105598419	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:105597938-105598468	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
34	TEAD4	chr8:105597850-105598513	K562	blood:	n/a	n/a
35	UBTF	chr8:105597945-105598405	K562	blood:	n/a	n/a
36	STAT5A	chr8:105597864-105598379	GM12878	blood:	n/a	n/a
37	TBP	chr8:105597820-105600273	GM12878	blood:	n/a	n/a
38	EP300	chr8:105597882-105598229	HepG2	liver:	n/a	n/a
39	BCL3	chr8:105597909-105598381	GM12878	blood:	n/a	n/a
40	SP1	chr8:105597653-105598409	A549	lung:	n/a	n/a
41	CCNT2	chr8:105597998-105598470	K562	blood:	n/a	n/a
42	NFATC1	chr8:105597740-105598699	GM12878	blood:	n/a	n/a
43	PML	chr8:105597831-105598436	GM12878	blood:	n/a	n/a
44	JUND	chr8:105597954-105598563	K562	blood:	n/a	n/a
45	NR2F2	chr8:105597902-105598517	K562	blood:	n/a	n/a
46	STAT1	chr8:105598073-105598325	GM12878	blood:	n/a	n/a
47	CTCF	chr8:105597963-105598123	K562	blood:	n/a	n/a
48	ATF1	chr8:105597961-105598402	K562	blood:	n/a	n/a
49	BHLHE40	chr8:105597916-105598377	K562	blood:	n/a	n/a
50	TBL1XR1	chr8:105597920-105598501	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105578550..105580666-chr8:105596704..105598646,2	K562	blood:
2	chr8:105597422..105599476-chr8:105599959..105601722,3	MCF-7	breast:
3	chr8:105583573..105585685-chr8:105598077..105599877,2	K562	blood:
4	chr8:105565178..105567381-chr8:105597153..105599899,2	K562	blood:
5	chr8:105596264..105598556-chr8:105600265..105602807,3	MCF-7	breast:
6	chr8:105587608..105589528-chr8:105597267..105600152,2	K562	blood:
7	chr8:105596815..105598399-chr8:105654955..105657445,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs35163714	1.00[AMR][1000 genomes]
rs4427139	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57061880	1.00[AMR][1000 genomes]
rs57149580	1.00[AMR][1000 genomes]
rs59042845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429525	1.00[AMR][1000 genomes]
rs60616186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61148214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61360760	1.00[AMR][1000 genomes]
rs73293290	1.00[AMR][1000 genomes]
rs73293292	1.00[AMR][1000 genomes]
rs73293298	1.00[AMR][1000 genomes]
rs73295103	1.00[AMR][1000 genomes]
rs73295113	1.00[AMR][1000 genomes]
rs73295116	1.00[AMR][1000 genomes]
rs73295148	1.00[AMR][1000 genomes]
rs73295155	1.00[AMR][1000 genomes]
rs73295157	1.00[AMR][1000 genomes]
rs73295168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297103	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297130	1.00[AMR][1000 genomes]
rs73297134	1.00[AMR][1000 genomes]
rs73297137	1.00[AMR][1000 genomes]
rs73297149	1.00[AMR][1000 genomes]
rs7813481	1.00[AMR][1000 genomes]
rs7832864	1.00[AMR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:105581600-105598600	Weak transcription	Osteobl	bone
2	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
3	chr8:105594800-105598200	Active TSS	GM12878-XiMat	blood
4	chr8:105595800-105599600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:105596000-105599200	Weak transcription	Right Ventricle	heart
6	chr8:105597000-105598800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:105597200-105599600	Weak transcription	Fetal Lung	lung
8	chr8:105597600-105598400	Weak transcription	Fetal Brain Female	brain
9	chr8:105597600-105598800	Enhancers	Brain Germinal Matrix	brain
10	chr8:105597600-105599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:105597600-105600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:105597800-105598400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:105597800-105598600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:105597800-105598800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:105597800-105599000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:105597800-105599000	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:105597800-105599000	Weak transcription	Fetal Thymus	thymus
18	chr8:105597800-105599000	Flanking Active TSS	A549	lung
19	chr8:105597800-105599200	Flanking Active TSS	Dnd41	blood
20	chr8:105597800-105599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:105597800-105599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:105597800-105599600	Enhancers	Fetal Brain Male	brain
23	chr8:105597800-105599600	Flanking Active TSS	K562	blood
24	chr8:105598000-105598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:105598000-105598200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:105598000-105598200	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:105598000-105598200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:105598000-105598400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:105598000-105598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:105598000-105598400	Enhancers	HSMMtube	muscle
31	chr8:105598000-105598800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:105598000-105598800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:105598000-105598800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:105598000-105599000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:105598000-105599400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:105598000-105599400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:105598000-105599400	Enhancers	Thymus	Thymus
38	chr8:105598000-105599800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:105598000-105600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:105598000-105600000	Enhancers	Fetal Heart	heart

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