Variant report

Variant	rs11989506
Chromosome Location	chr8:27181062-27181063
allele	A/C
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	FOXA1	chr8:27180257-27181081	HepG2	liver:	n/a	n/a
2	CTCF	chr8:27181020-27181170	GM12868	blood:	n/a	n/a
3	CTCF	chr8:27180960-27181110	HRE	kidney:	n/a	n/a
4	TEAD4	chr8:27180104-27181070	HepG2	liver:	n/a	n/a
5	FOXA1	chr8:27180183-27181066	HepG2	liver:	n/a	n/a
6	FOXA2	chr8:27180618-27181062	A549	lung:	n/a	n/a
7	MYBL2	chr8:27180301-27181341	HepG2	liver:	n/a	n/a
8	FOXA1	chr8:27180199-27181070	HepG2	liver:	n/a	n/a
9	MAFK	chr8:27181012-27183596	GM12878	blood:	n/a	chr8:27181792-27181803 chr8:27181793-27181804 chr8:27181792-27181803 chr8:27181793-27181804 chr8:27182993-27183008 chr8:27181342-27181353
10	CTCF	chr8:27180997-27181811	HCT-116	colon:	n/a	n/a
11	TCF7L2	chr8:27179912-27181086	HepG2	liver:	n/a	chr8:27180899-27180906
12	CTCF	chr8:27180920-27181070	K562	blood:	n/a	n/a
13	SMC3	chr8:27180912-27182596	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr8:27180995-27182671	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr8:27181039-27182406	HCT-116	colon:	n/a	n/a
16	CTCF	chr8:27180960-27182408	A549	lung:	n/a	n/a
17	NR2F2	chr8:27180082-27181265	HepG2	liver:	n/a	n/a
18	HDAC2	chr8:27180330-27181085	HepG2	liver:	n/a	chr8:27181026-27181040 chr8:27180922-27180936
19	FOXA2	chr8:27180115-27181234	HepG2	liver:	n/a	n/a
20	CTCF	chr8:27180980-27181130	GM12874	blood:	n/a	n/a
21	CTCF	chr8:27181040-27181190	GM12878	blood:	n/a	n/a
22	RXRA	chr8:27180219-27181115	HepG2	liver:	n/a	chr8:27180746-27180759 chr8:27180746-27180759 chr8:27180743-27180763 chr8:27180746-27180759
23	RAD21	chr8:27181016-27182374	SK-N-SH	brain:	n/a	chr8:27181499-27181511

No.	Distal block	Cell Line	Cell type
1	chr8:27180977..27181878-chr8:27454395..27455292,4	K562	blood:
2	chr8:27180629..27182142-chr8:27283376..27284413,18	K562	blood:
3	chr8:27146919..27149121-chr8:27180832..27182849,2	K562	blood:
4	chr8:27180793..27182210-chr8:27283370..27284452,23	MCF-7	breast:
5	chr8:27180767..27181957-chr8:27283475..27284407,13	MCF-7	breast:
6	chr8:27180962..27181895-chr8:27449455..27449996,2	K562	blood:
7	chr8:27168356..27170720-chr8:27180135..27182189,2	MCF-7	breast:

Variant related genes	Relation type
PTK2B	TF binding region
ENSG00000120899	Chromatin interaction
ENSG00000104228	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10104133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754133	chr8:27016283-27181083	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv869866	chr8:27159275-27242913	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27169600-27181600	Weak transcription	Esophagus	oesophagus
2	chr8:27169600-27181600	Weak transcription	Lung	lung
3	chr8:27169600-27183000	Weak transcription	Ovary	ovary
4	chr8:27169800-27181400	Weak transcription	Right Ventricle	heart
5	chr8:27169800-27181400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:27169800-27181600	Weak transcription	Psoas Muscle	Psoas
7	chr8:27169800-27182400	Weak transcription	Aorta	Aorta
8	chr8:27170000-27181400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:27170000-27181600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:27170000-27182600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:27170200-27181600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:27170200-27182400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:27173200-27181400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:27173200-27182800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:27173400-27181400	Weak transcription	GM12878-XiMat	blood
16	chr8:27173400-27181400	Weak transcription	Hela-S3	cervix
17	chr8:27173400-27181600	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:27173400-27181600	Weak transcription	Dnd41	blood
19	chr8:27173600-27181400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:27173600-27181600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:27173600-27181600	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:27173600-27181800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:27173800-27181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:27173800-27181600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:27174400-27182400	Weak transcription	Brain Substantia Nigra	brain
26	chr8:27175800-27181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:27176000-27182600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:27176000-27184000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:27176200-27181400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:27176200-27181400	Weak transcription	Brain Anterior Caudate	brain
31	chr8:27176200-27182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:27176200-27183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:27176400-27181600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:27176400-27181600	Weak transcription	Placenta	Placenta
35	chr8:27177000-27181400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:27177600-27181600	Weak transcription	Primary B cells from cord blood	blood
37	chr8:27177600-27181600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:27177800-27181400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:27177800-27181400	Weak transcription	Thymus	Thymus
40	chr8:27178000-27181400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:27178000-27181600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:27178000-27181600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:27178000-27181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:27178200-27181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:27178200-27181400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:27178200-27181400	Weak transcription	Fetal Thymus	thymus
47	chr8:27178200-27181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:27178400-27181200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:27178400-27181400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:27178400-27181400	Weak transcription	Primary T cells fromperipheralblood	blood

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