Variant report

Variant	rs10957125
Chromosome Location	chr8:61194170-61194171
allele	G/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	IRF1	chr8:61193762-61194357	K562	blood:	n/a	chr8:61194013-61194027
2	MYC	chr8:61193217-61194258	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
3	CREB1	chr8:61193635-61194262	H1-hESC	embryonic stem cell:	n/a	n/a
4	PML	chr8:61193596-61194197	K562	blood:	n/a	n/a
5	HEY1	chr8:61193201-61194401	K562	blood:	n/a	chr8:61193773-61193788 chr8:61193765-61193780
6	MYC	chr8:61193232-61194271	NB4	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
7	YY1	chr8:61193523-61194345	K562	blood:	n/a	chr8:61194143-61194152 chr8:61193564-61193573 chr8:61194140-61194151 chr8:61194141-61194155 chr8:61193712-61193721 chr8:61194140-61194149
8	FOXA2	chr8:61194162-61195232	HepG2	liver:	n/a	chr8:61194430-61194442
9	POLR2A	chr8:61193553-61194240	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr8:61193605-61194245	PANC-1	pancreas:	n/a	n/a
11	BHLHE40	chr8:61193167-61194404	K562	blood:	n/a	chr8:61193736-61193752 chr8:61193728-61193744
12	HMGN3	chr8:61193245-61194322	K562	blood:	n/a	n/a
13	ZBTB7A	chr8:61193264-61194341	K562	blood:	n/a	n/a
14	MAX	chr8:61193048-61194271	A549	lung:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
15	EGR1	chr8:61193748-61194350	K562	blood:	n/a	chr8:61194116-61194126 chr8:61194138-61194148 chr8:61194138-61194151 chr8:61194139-61194148 chr8:61194142-61194152 chr8:61194145-61194155 chr8:61194018-61194031
16	TBP	chr8:61193752-61194307	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr8:61193211-61194233	NB4	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
18	REST	chr8:61193120-61194633	H1-neurons	neurons:	n/a	chr8:61193738-61193751 chr8:61193755-61193775 chr8:61193576-61193585 chr8:61193758-61193771
19	POLR2A	chr8:61193559-61194245	MCF-7	breast:	n/a	n/a
20	CEBPD	chr8:61193508-61194299	K562	blood:	n/a	n/a
21	TBP	chr8:61193041-61194404	K562	blood:	n/a	n/a
22	POLR2A	chr8:61193283-61194178	HEK293	kidney:	n/a	n/a
23	TAF1	chr8:61193696-61194256	K562	blood:	n/a	n/a
24	CCNT2	chr8:61193215-61194335	K562	blood:	n/a	n/a
25	POLR2A	chr8:61193291-61194311	K562	blood:	n/a	n/a
26	EGR1	chr8:61193755-61194270	K562	blood:	n/a	chr8:61194116-61194126 chr8:61194138-61194148 chr8:61194138-61194151 chr8:61194139-61194148 chr8:61194142-61194152 chr8:61194145-61194155 chr8:61194018-61194031
27	TEAD4	chr8:61193623-61194437	K562	blood:	n/a	n/a
28	POLR2A	chr8:61193167-61194371	K562	blood:	n/a	n/a
29	POLR2A	chr8:61193555-61194402	K562	blood:	n/a	n/a
30	SIN3AK20	chr8:61193104-61194175	PANC-1	pancreas:	n/a	n/a
31	E2F6	chr8:61193637-61194190	K562	blood:	n/a	chr8:61194143-61194152 chr8:61194116-61194125
32	POLR2A	chr8:61193304-61194308	MCF-7	breast:	n/a	n/a
33	HEY1	chr8:61193541-61194294	K562	blood:	n/a	chr8:61193773-61193788 chr8:61193765-61193780
34	POLR2A	chr8:61193185-61194350	K562	blood:	n/a	n/a
35	POLR2A	chr8:61193192-61194331	K562	blood:	n/a	n/a
36	POLR2A	chr8:61193254-61194381	NB4	blood:	n/a	n/a
37	YY1	chr8:61194129-61194291	K562	blood:	n/a	chr8:61194143-61194152 chr8:61194140-61194151 chr8:61194141-61194155 chr8:61194140-61194149
38	JUND	chr8:61193377-61194190	K562	blood:	n/a	chr8:61194117-61194126
39	PML	chr8:61193382-61194246	K562	blood:	n/a	n/a
40	UBTF	chr8:61193051-61194379	K562	blood:	n/a	n/a
41	POLR2A	chr8:61193277-61194301	MCF-7	breast:	n/a	n/a
42	MAX	chr8:61193115-61194303	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
43	MAZ	chr8:61193093-61194548	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
44	JUND	chr8:61193674-61194187	A549	lung:	n/a	chr8:61194117-61194126
45	SIN3AK20	chr8:61193082-61195101	MCF-7	breast:	n/a	n/a
46	BACH1	chr8:61193276-61194409	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr8:61193129-61194314	HL-60	blood:	n/a	n/a
48	POLR2A	chr8:61192995-61194378	K562	blood:	n/a	n/a
49	POLR2A	chr8:61193177-61194371	K562	blood:	n/a	n/a
50	RCOR1	chr8:61193109-61194209	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:1781900..1782740-chr8:61193613..61194393,2	NB4	blood:
2	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:
3	chr3:160473342..160474139-chr8:61193523..61194215,2	NB4	blood:
4	chr17:56736316..56737048-chr8:61193710..61194257,2	NB4	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000163590	Chromatin interaction
ENSG00000178538	Chromatin interaction
ENSG00000236081	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10086200	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10086352	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086449	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089297	0.82[EUR][1000 genomes]
rs10093008	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10094224	0.83[EUR][1000 genomes]
rs10094326	0.81[EUR][1000 genomes]
rs10094523	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097537	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10097613	0.82[EUR][1000 genomes]
rs10098038	0.82[EUR][1000 genomes]
rs10101157	0.81[EUR][1000 genomes]
rs10105094	0.81[EUR][1000 genomes]
rs10105098	0.82[EUR][1000 genomes]
rs10105158	0.83[EUR][1000 genomes]
rs10109265	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109487	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112099	0.82[EUR][1000 genomes]
rs10112677	0.83[EUR][1000 genomes]
rs10435600	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774698	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774872	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778498	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781514	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13266513	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13267008	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13269899	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13274525	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13280153	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13280906	0.82[EUR][1000 genomes]
rs13281067	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281126	0.82[EUR][1000 genomes]
rs13282489	0.81[EUR][1000 genomes]
rs1480340	0.80[EUR][1000 genomes]
rs1480341	0.82[EUR][1000 genomes]
rs28371059	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28376554	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28429093	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28481384	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28532174	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28643410	0.81[EUR][1000 genomes]
rs28759336	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35256935	0.82[EUR][1000 genomes]
rs35503542	0.82[EUR][1000 genomes]
rs35552143	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4351453	0.82[EUR][1000 genomes]
rs4527913	0.81[EUR][1000 genomes]
rs4584176	0.82[EUR][1000 genomes]
rs6471851	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471852	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471853	0.83[ASN][1000 genomes]
rs6471855	0.83[ASN][1000 genomes]
rs6471856	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471857	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471858	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471859	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6983247	0.83[EUR][1000 genomes]
rs6983830	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987786	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6988169	0.83[ASN][1000 genomes]
rs6990370	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998745	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002077	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7002369	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003287	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006734	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007157	0.83[ASN][1000 genomes]
rs7009243	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7009482	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463930	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7463939	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464181	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7465560	0.82[EUR][1000 genomes]
rs7812953	0.81[ASN][1000 genomes]
rs7814280	0.83[ASN][1000 genomes]
rs7814473	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7815042	0.80[EUR][1000 genomes]
rs7824986	0.81[EUR][1000 genomes]
rs7826329	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832414	0.80[EUR][1000 genomes]
rs7832419	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840279	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7841372	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841458	0.82[EUR][1000 genomes]
rs7841804	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843385	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7845524	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9298028	0.82[EUR][1000 genomes]
rs9298029	0.80[EUR][1000 genomes]
rs9298031	0.82[EUR][1000 genomes]
rs9298032	0.83[EUR][1000 genomes]
rs9298033	0.82[EUR][1000 genomes]
rs9643367	0.83[ASN][1000 genomes]
rs9643368	0.83[ASN][1000 genomes]
rs9657070	0.83[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

Variant related diseases (count:1)

Disease	PMID	Source
Response to amphetamines	22952603	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10957125	CA8	cis	lung	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61191800-61194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:61192200-61194600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:61192200-61194800	Active TSS	Right Atrium	heart
4	chr8:61192400-61194200	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr8:61192400-61194200	Active TSS	A549	lung
6	chr8:61192400-61194600	Active TSS	K562	blood
7	chr8:61192600-61194400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:61192600-61194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:61192800-61194200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:61192800-61194400	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr8:61192800-61194600	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr8:61193000-61194400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:61193000-61194400	Active TSS	Primary T cells from cord blood	blood
14	chr8:61193000-61194400	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:61193000-61194400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:61193000-61194400	Bivalent/Poised TSS	Thymus	Thymus
17	chr8:61193000-61194600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:61193000-61194600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr8:61193000-61194600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:61193000-61194600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:61193000-61194600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:61193000-61194600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr8:61193000-61194600	Active TSS	Brain Hippocampus Middle	brain
24	chr8:61193000-61194600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:61193000-61194800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr8:61193000-61194800	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr8:61193000-61195000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:61193000-61195000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:61193200-61194200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:61193200-61194200	Bivalent/Poised TSS	Fetal Thymus	thymus
31	chr8:61193200-61194400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:61193200-61194400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:61193200-61194400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:61193200-61194400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr8:61193200-61194400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:61193200-61194400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr8:61193200-61194400	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr8:61193200-61194400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr8:61193200-61194400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr8:61193200-61194400	Bivalent/Poised TSS	Small Intestine	intestine
41	chr8:61193200-61194600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr8:61193200-61194600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr8:61193200-61194600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr8:61193200-61194600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr8:61193200-61194800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:61193200-61194800	Active TSS	Brain Anterior Caudate	brain
47	chr8:61193400-61194200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:61193400-61194400	Active TSS	Stomach Mucosa	stomach
49	chr8:61193400-61194400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr8:61193600-61194200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood

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