Variant report

Variant	rs12155603
Chromosome Location	chr8:61194626-61194627
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	POLR2A	chr8:61194516-61194801	K562	blood:	n/a	n/a
2	FOXA2	chr8:61194162-61195232	HepG2	liver:	n/a	chr8:61194430-61194442
3	ZEB1	chr8:61194439-61194997	HepG2	liver:	n/a	chr8:61194679-61194686
4	FOXA2	chr8:61194424-61194908	A549	lung:	n/a	chr8:61194430-61194442
5	ELF1	chr8:61194551-61194828	HepG2	liver:	n/a	n/a
6	ZNF384	chr8:61194322-61194868	K562	blood:	n/a	n/a
7	FOXA1	chr8:61194516-61195030	HepG2	liver:	n/a	chr8:61194684-61194699
8	CEBPB	chr8:61194459-61194961	MCF-7	breast:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
9	CEBPB	chr8:61194600-61194811	A549	lung:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
10	CEBPB	chr8:61194491-61194914	HepG2	liver:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
11	REST	chr8:61193120-61194633	H1-neurons	neurons:	n/a	chr8:61193738-61193751 chr8:61193755-61193775 chr8:61193576-61193585 chr8:61193758-61193771
12	FOXA1	chr8:61194523-61194916	HepG2	liver:	n/a	chr8:61194684-61194699
13	FOXA2	chr8:61194535-61194860	A549	lung:	n/a	n/a
14	CEBPB	chr8:61194560-61194914	HepG2	liver:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
15	HNF4A	chr8:61194572-61194797	HepG2	liver:	n/a	n/a
16	EP300	chr8:61194589-61194909	T-47D	breast:	n/a	chr8:61194743-61194757
17	CEBPB	chr8:61194619-61194821	HepG2	liver:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
18	CEBPB	chr8:61194571-61194928	K562	blood:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
19	SIN3A	chr8:61194554-61194748	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr8:61193082-61195101	MCF-7	breast:	n/a	n/a
21	FOXA1	chr8:61194369-61194981	HepG2	liver:	n/a	chr8:61194684-61194699 chr8:61194430-61194442
22	NFIC	chr8:61194587-61194814	HepG2	liver:	n/a	n/a
23	FOXA1	chr8:61194438-61194891	T-47D	breast:	n/a	chr8:61194684-61194699
24	FOXA1	chr8:61194493-61194871	HepG2	liver:	n/a	chr8:61194684-61194699
25	ZEB1	chr8:61194571-61194960	HepG2	liver:	n/a	chr8:61194679-61194686
26	RCOR1	chr8:61194553-61194718	K562	blood:	n/a	n/a
27	GATA3	chr8:61194580-61194887	T-47D	breast:	n/a	n/a
28	FOXA1	chr8:61194573-61194860	T-47D	breast:	n/a	chr8:61194684-61194699
29	CEBPB	chr8:61194554-61194998	MCF-7	breast:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
30	CEBPB	chr8:61194578-61194899	HepG2	liver:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
31	FOXA2	chr8:61194538-61194893	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10504308	0.81[ASN][1000 genomes]
rs11996007	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997891	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12676801	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679218	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16925975	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926000	0.81[ASN][1000 genomes]
rs1842391	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737555	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738802	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55948763	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56275436	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57360505	0.82[ASN][1000 genomes]
rs59616608	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59700121	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60042864	0.82[ASN][1000 genomes]
rs60690040	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61057972	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648503	0.81[ASN][1000 genomes]
rs72665113	0.94[ASN][1000 genomes]
rs72665118	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665119	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665124	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665137	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7462854	0.93[ASN][1000 genomes]
rs7463394	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820639	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827209	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839481	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9693218	0.91[EUR][1000 genomes];0.93[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	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61192200-61194800	Active TSS	Right Atrium	heart
2	chr8:61193000-61194800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr8:61193000-61194800	Bivalent/Poised TSS	Psoas Muscle	Psoas
4	chr8:61193000-61195000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:61193000-61195000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:61193200-61194800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:61193200-61194800	Active TSS	Brain Anterior Caudate	brain
8	chr8:61194000-61194800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr8:61194000-61198600	Weak transcription	Gastric	stomach
10	chr8:61194200-61194800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:61194200-61194800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:61194200-61194800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr8:61194200-61194800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:61194400-61194800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:61194400-61194800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:61194400-61194800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:61194400-61194800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:61194400-61194800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr8:61194400-61194800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr8:61194400-61194800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr8:61194400-61194800	Enhancers	Pancreas	Pancrea
22	chr8:61194400-61194800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr8:61194400-61194800	Bivalent Enhancer	NH-A	brain
24	chr8:61194400-61195000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr8:61194400-61195000	Bivalent Enhancer	Fetal Lung	lung
26	chr8:61194400-61195000	Enhancers	HepG2	liver
27	chr8:61194400-61195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:61194400-61195200	Enhancers	Liver	Liver
29	chr8:61194400-61195200	Bivalent Enhancer	Fetal Kidney	kidney
30	chr8:61194400-61195200	Enhancers	Stomach Mucosa	stomach
31	chr8:61194600-61194800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
32	chr8:61194600-61194800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr8:61194600-61194800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:61194600-61194800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:61194600-61194800	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:61194600-61194800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:61194600-61194800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr8:61194600-61194800	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr8:61194600-61194800	Flanking Bivalent TSS/Enh	A549	lung
40	chr8:61194600-61194800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr8:61194600-61195000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr8:61194600-61195000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:61194600-61195000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr8:61194600-61195000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:61194600-61195000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:61194600-61195000	Flanking Active TSS	K562	blood
47	chr8:61194600-61195200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr8:61194600-61195200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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