Variant report

Variant	rs11778498
Chromosome Location	chr8:61194476-61194477
allele	A/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	FOXA2	chr8:61194162-61195232	HepG2	liver:	n/a	chr8:61194430-61194442
2	ZEB1	chr8:61194439-61194997	HepG2	liver:	n/a	chr8:61194679-61194686
3	FOXA2	chr8:61194424-61194908	A549	lung:	n/a	chr8:61194430-61194442
4	ZNF384	chr8:61194322-61194868	K562	blood:	n/a	n/a
5	CEBPB	chr8:61194459-61194961	MCF-7	breast:	n/a	chr8:61194742-61194755 chr8:61194742-61194753 chr8:61194742-61194755
6	REST	chr8:61193120-61194633	H1-neurons	neurons:	n/a	chr8:61193738-61193751 chr8:61193755-61193775 chr8:61193576-61193585 chr8:61193758-61193771
7	CHD1	chr8:61194462-61194607	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr8:61193093-61194548	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
9	SIN3AK20	chr8:61193082-61195101	MCF-7	breast:	n/a	n/a
10	EP300	chr8:61194435-61194559	K562	blood:	n/a	n/a
11	FOXA1	chr8:61194369-61194981	HepG2	liver:	n/a	chr8:61194684-61194699 chr8:61194430-61194442
12	FOXA1	chr8:61194438-61194891	T-47D	breast:	n/a	chr8:61194684-61194699
13	NR2F2	chr8:61193684-61194549	K562	blood:	n/a	n/a
14	POLR2A	chr8:61193129-61194478	K562	blood:	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: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10086200	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086352	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086449	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10089297	0.82[EUR][1000 genomes]
rs10093008	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10094224	0.83[EUR][1000 genomes]
rs10094326	0.81[EUR][1000 genomes]
rs10094523	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097537	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10097613	0.82[EUR][1000 genomes]
rs10098038	0.82[EUR][1000 genomes]
rs10101157	0.80[EUR][1000 genomes]
rs10105094	0.80[EUR][1000 genomes]
rs10105098	0.82[EUR][1000 genomes]
rs10105158	0.83[EUR][1000 genomes]
rs10109265	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109487	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10112099	0.82[EUR][1000 genomes]
rs10112677	0.83[EUR][1000 genomes]
rs10435600	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957125	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774698	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11774872	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781514	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13266513	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13267008	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13269899	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13274525	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13280153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13280906	0.82[EUR][1000 genomes]
rs13281067	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13281126	0.82[EUR][1000 genomes]
rs13282489	0.81[EUR][1000 genomes]
rs1480341	0.82[EUR][1000 genomes]
rs28371059	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28376554	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28429093	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28481384	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28532174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28643410	0.81[EUR][1000 genomes]
rs28759336	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35256935	0.82[EUR][1000 genomes]
rs35503542	0.82[EUR][1000 genomes]
rs35552143	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4351453	0.82[EUR][1000 genomes]
rs4527913	0.81[EUR][1000 genomes]
rs4584176	0.82[EUR][1000 genomes]
rs6471851	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471852	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471853	0.81[ASN][1000 genomes]
rs6471855	0.81[ASN][1000 genomes]
rs6471856	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471857	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471858	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471859	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6983247	0.83[EUR][1000 genomes]
rs6983830	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6987786	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6988169	0.81[ASN][1000 genomes]
rs6990370	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002077	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002369	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7003287	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006734	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7007157	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7009243	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7009482	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7463930	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7463939	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464181	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7465560	0.82[EUR][1000 genomes]
rs7814280	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7814473	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7824986	0.81[EUR][1000 genomes]
rs7826329	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832419	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7840279	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7841372	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841458	0.82[EUR][1000 genomes]
rs7841804	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843385	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7845524	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9298028	0.82[EUR][1000 genomes]
rs9298031	0.82[EUR][1000 genomes]
rs9298032	0.83[EUR][1000 genomes]
rs9298033	0.82[EUR][1000 genomes]
rs9643367	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643368	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9657070	0.82[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11778498	CA8	cis	lung	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61192200-61194600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:61192200-61194800	Active TSS	Right Atrium	heart
3	chr8:61192400-61194600	Active TSS	K562	blood
4	chr8:61192600-61194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:61192800-61194600	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr8:61193000-61194600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:61193000-61194600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr8:61193000-61194600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:61193000-61194600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:61193000-61194600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:61193000-61194600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr8:61193000-61194600	Active TSS	Brain Hippocampus Middle	brain
13	chr8:61193000-61194600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:61193000-61194800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr8:61193000-61194800	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr8:61193000-61195000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:61193000-61195000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:61193200-61194600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr8:61193200-61194600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr8:61193200-61194600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr8:61193200-61194600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr8:61193200-61194800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:61193200-61194800	Active TSS	Brain Anterior Caudate	brain
24	chr8:61193600-61194600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr8:61193800-61194600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:61193800-61194600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:61194000-61194600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr8:61194000-61194800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr8:61194000-61198600	Weak transcription	Gastric	stomach
30	chr8:61194200-61194600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr8:61194200-61194600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr8:61194200-61194600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:61194200-61194600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:61194200-61194600	Bivalent/Poised TSS	A549	lung
35	chr8:61194200-61194800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:61194200-61194800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:61194200-61194800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr8:61194200-61194800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:61194400-61194600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr8:61194400-61194600	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr8:61194400-61194600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr8:61194400-61194600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
43	chr8:61194400-61194600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr8:61194400-61194600	Bivalent/Poised TSS	Fetal Heart	heart
45	chr8:61194400-61194600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr8:61194400-61194600	Bivalent Enhancer	Small Intestine	intestine
47	chr8:61194400-61194800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:61194400-61194800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:61194400-61194800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:61194400-61194800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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