Variant report

Variant	rs10808112
Chromosome Location	chr7:99070988-99070989
allele	C/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	MAX	chr7:99070181-99071179	Hela-S3	cervix:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
2	MYBL2	chr7:99069988-99071197	HepG2	liver:	n/a	n/a
3	SIN3AK20	chr7:99070165-99071078	PANC-1	pancreas:	n/a	n/a
4	YY1	chr7:99070748-99071231	GM12878	blood:	n/a	n/a
5	GTF2F1	chr7:99070918-99071225	K562	blood:	n/a	n/a
6	SPI1	chr7:99070881-99071303	K562	blood:	n/a	n/a
7	POLR2A	chr7:99070080-99071291	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr7:99069928-99071829	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:99070237-99071039	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:99070059-99071192	GM12878	blood:	n/a	n/a
11	ELF1	chr7:99070882-99071321	K562	blood:	n/a	n/a
12	RELA	chr7:99070199-99071171	GM18951	blood:	n/a	n/a
13	TAF1	chr7:99070047-99071112	ECC-1	luminal epithelium:	n/a	n/a
14	WRNIP1	chr7:99070879-99071172	GM12878	blood:	n/a	n/a
15	MAX	chr7:99070154-99071129	GM12878	blood:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
16	USF1	chr7:99070771-99071342	K562	blood:	n/a	n/a
17	TAF1	chr7:99070076-99071036	ECC-1	luminal epithelium:	n/a	n/a
18	USF1	chr7:99070048-99071275	SK-N-SH	brain:	n/a	chr7:99070324-99070337 chr7:99070325-99070336 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335
19	HCFC1	chr7:99070195-99071213	K562	blood:	n/a	n/a
20	SIN3AK20	chr7:99070026-99071330	MCF-7	breast:	n/a	n/a
21	USF1	chr7:99070809-99071035	HepG2	liver:	n/a	n/a
22	SPI1	chr7:99070681-99071553	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:99070037-99071223	K562	blood:	n/a	n/a
24	USF2	chr7:99070126-99071074	H1-hESC	embryonic stem cell:	n/a	chr7:99070325-99070336 chr7:99070324-99070337 chr7:99070936-99070947 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335
25	ELF1	chr7:99070818-99071232	A549	lung:	n/a	n/a
26	SRF	chr7:99070889-99071288	K562	blood:	n/a	n/a
27	MAX	chr7:99070106-99071434	K562	blood:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
28	USF1	chr7:99069920-99071206	HCT-116	colon:	n/a	chr7:99070324-99070337 chr7:99070325-99070336 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335
29	HEY1	chr7:99070040-99071317	K562	blood:	n/a	chr7:99070490-99070505
30	MYC	chr7:99070104-99071333	K562	blood:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
31	POLR2A	chr7:99068954-99071211	MCF10A-Er-Src	breast:	n/a	n/a
32	SPI1	chr7:99070930-99071205	GM12878	blood:	n/a	n/a
33	NFYA	chr7:99070102-99071312	K562	blood:	n/a	chr7:99070385-99070400 chr7:99070352-99070370 chr7:99070357-99070371 chr7:99070385-99070400 chr7:99070381-99070399 chr7:99070389-99070401
34	POLR2A	chr7:99069940-99071254	PBDE	blood:	n/a	n/a
35	POLR2A	chr7:99070050-99071099	H1-neurons	neurons:	n/a	n/a
36	MYC	chr7:99070874-99071242	H1-hESC	embryonic stem cell:	n/a	chr7:99070938-99070947
37	CBX3	chr7:99070761-99071419	K562	blood:	n/a	chr7:99070973-99070984
38	TBP	chr7:99070041-99071124	Hela-S3	cervix:	n/a	n/a
39	SRF	chr7:99070856-99071351	ECC-1	luminal epithelium:	n/a	n/a
40	BCL3	chr7:99070189-99071289	A549	lung:	n/a	n/a
41	MAX	chr7:99070140-99071325	NB4	blood:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
42	USF1	chr7:99070083-99071303	K562	blood:	n/a	chr7:99070324-99070337 chr7:99070325-99070336 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335
43	SP2	chr7:99070033-99071117	HepG2	liver:	n/a	n/a
44	TEAD4	chr7:99069877-99071448	K562	blood:	n/a	n/a
45	BCLAF1	chr7:99070106-99071114	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:99070098-99071205	HUVEC	blood vessel:	n/a	n/a
47	USF2	chr7:99070780-99071190	Hela-S3	cervix:	n/a	chr7:99070936-99070947
48	CUX1	chr7:99070918-99071206	K562	blood:	n/a	n/a
49	NRF1	chr7:99070121-99071324	SK-N-SH	brain:	n/a	chr7:99070497-99070508
50	USF1	chr7:99070033-99071346	HCT-116	colon:	n/a	chr7:99070324-99070337 chr7:99070325-99070336 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335

No.	Distal block	Cell Line	Cell type
1	chr7:99068908..99072651-chr7:99154750..99158224,8	K562	blood:
2	chr7:99004812..99006640-chr7:99069621..99072318,3	K562	blood:
3	chr7:99068815..99072356-chr7:99100086..99103806,3	MCF-7	breast:
4	chr7:99062287..99065237-chr7:99068917..99072408,9	MCF-7	breast:
5	chr7:99034517..99037333-chr7:99070217..99072293,2	K562	blood:
6	chr7:99068023..99071798-chr7:99154715..99160193,6	K562	blood:
7	chr7:99070549..99074806-chr7:99079713..99086160,8	K562	blood:
8	chr7:99070395..99072664-chr7:99081646..99084913,3	MCF-7	breast:
9	chr7:99068972..99072429-chr7:99096212..99099578,8	K562	blood:
10	chr7:99069496..99072667-chr7:99072993..99076843,7	MCF-7	breast:
11	chr7:99070856..99073411-chr7:99081785..99084342,2	MCF-7	breast:
12	chr7:99057414..99059728-chr7:99070911..99072427,2	K562	blood:
13	chr7:99068981..99071062-chr7:99097766..99099600,3	MCF-7	breast:
14	chr7:99069267..99072037-chr7:99212964..99216446,4	MCF-7	breast:
15	chr7:99068944..99071143-chr7:99214242..99216094,2	K562	blood:
16	chr7:99069369..99071006-chr7:99097594..99099099,2	MCF-7	breast:
17	chr7:99069546..99072504-chr7:99101462..99103609,2	MCF-7	breast:

Variant related genes	Relation type
ZNF789	TF binding region
ENSG00000197343	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000197037	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000198556	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10215765	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215854	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226310	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235235	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236240	1.00[ASN][1000 genomes]
rs10264505	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268984	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10273424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275381	1.00[ASN][1000 genomes]
rs10277447	1.00[ASN][1000 genomes]
rs10278040	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs10808111	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs10953288	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs10953289	1.00[ASN][1000 genomes]
rs11555142	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761528	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766423	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971640	1.00[ASN][1000 genomes]
rs11972017	1.00[CHB][hapmap]
rs11973173	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973801	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11974885	1.00[CHB][hapmap]
rs11977673	1.00[CHD][hapmap]
rs11978345	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11978582	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11980995	1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	1.00[ASN][1000 genomes]
rs12531852	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs12533251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535424	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12538826	0.86[EUR][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13227522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240600	0.81[CEU][hapmap]
rs13243267	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161687	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17161761	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003498	1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28419687	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627543	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862110	0.86[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap]
rs34096782	1.00[ASN][1000 genomes]
rs34111611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34257469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35183025	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296070	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779354	0.86[YRI][hapmap]
rs45618033	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs61740607	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs66674233	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs67934834	1.00[ASN][1000 genomes]
rs6947826	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947941	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947974	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955891	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960805	1.00[CHB][hapmap]
rs6960810	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs6961579	1.00[CHB][hapmap]
rs704798	1.00[ASN][1000 genomes]
rs73157600	1.00[ASN][1000 genomes]
rs73157601	1.00[ASN][1000 genomes]
rs73157602	1.00[ASN][1000 genomes]
rs73159506	1.00[ASN][1000 genomes]
rs73159509	1.00[ASN][1000 genomes]
rs73159522	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7778859	1.00[ASN][1000 genomes]
rs9632722	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656060	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10808112	GS1-259H13.2	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99066800-99071600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:99066800-99071800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:99067600-99071400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:99068800-99071000	Active TSS	Hela-S3	cervix
5	chr7:99068800-99071200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:99068800-99071600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:99068800-99071600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:99068800-99072000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:99069000-99071000	Active TSS	Primary T cells from cord blood	blood
10	chr7:99069000-99071000	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr7:99069000-99071000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:99069000-99071000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:99069000-99071000	Active TSS	Brain Anterior Caudate	brain
14	chr7:99069000-99071000	Active TSS	Brain Hippocampus Middle	brain
15	chr7:99069000-99071000	Active TSS	Colon Smooth Muscle	Colon
16	chr7:99069000-99071000	Active TSS	Duodenum Mucosa	Duodenum
17	chr7:99069000-99071000	Active TSS	Fetal Brain Male	brain
18	chr7:99069000-99071000	Active TSS	Fetal Lung	lung
19	chr7:99069000-99071000	Active TSS	Ovary	ovary
20	chr7:99069000-99071000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:99069000-99071000	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:99069000-99071000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr7:99069000-99071000	Active TSS	Thymus	Thymus
24	chr7:99069000-99071200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:99069000-99071200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:99069000-99071200	Active TSS	K562	blood
27	chr7:99069000-99071600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:99069000-99071600	Active TSS	A549	lung
29	chr7:99069000-99071800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr7:99069000-99071800	Active TSS	Fetal Kidney	kidney
31	chr7:99069200-99071000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:99069200-99071000	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr7:99069200-99071000	Active TSS	Primary B cells from peripheral blood	blood
34	chr7:99069200-99071000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:99069200-99071000	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:99069200-99071000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:99069200-99071000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr7:99069200-99071000	Active TSS	Fetal Muscle Leg	muscle
39	chr7:99069200-99071000	Active TSS	Fetal Stomach	stomach
40	chr7:99069200-99071000	Active TSS	Dnd41	blood
41	chr7:99069200-99071000	Active TSS	Osteobl	bone
42	chr7:99069200-99071200	Active TSS	Brain Germinal Matrix	brain
43	chr7:99069200-99071200	Active TSS	Fetal Intestine Large	intestine
44	chr7:99069200-99071200	Active TSS	Fetal Intestine Small	intestine
45	chr7:99069200-99071400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:99069200-99071800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:99069400-99071000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:99069400-99071000	Active TSS	Fetal Brain Female	brain
49	chr7:99069400-99071000	Active TSS	Psoas Muscle	Psoas
50	chr7:99069400-99071000	Active TSS	Right Ventricle	heart

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