Variant report

Variant	rs28734136
Chromosome Location	chr7:99070040-99070041
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	MYBL2	chr7:99069988-99071197	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:99069928-99071829	GM12878	blood:	n/a	n/a
3	TAF1	chr7:99070012-99070737	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr7:99070026-99071330	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:99070037-99071223	K562	blood:	n/a	n/a
6	REST	chr7:99069993-99070672	PFSK-1	brain:	n/a	chr7:99070316-99070325
7	HEY1	chr7:99069956-99070844	HepG2	liver:	n/a	chr7:99070490-99070505
8	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
9	HEY1	chr7:99070040-99071317	K562	blood:	n/a	chr7:99070490-99070505
10	POLR2A	chr7:99068954-99071211	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:99069940-99071254	PBDE	blood:	n/a	n/a
12	SP2	chr7:99070033-99071117	HepG2	liver:	n/a	n/a
13	TEAD4	chr7:99069877-99071448	K562	blood:	n/a	n/a
14	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
15	MAX	chr7:99070016-99071267	A549	lung:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
16	POLR2A	chr7:99068943-99071335	K562	blood:	n/a	n/a
17	GTF3C2	chr7:99069781-99070314	Hela-S3	cervix:	n/a	n/a
18	USF1	chr7:99069911-99071192	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	TAF1	chr7:99069955-99070809	K562	blood:	n/a	n/a
20	SIN3AK20	chr7:99069995-99071436	MCF-7	breast:	n/a	n/a
21	USF1	chr7:99070026-99070610	SK-N-SH_RA	brain:	n/a	chr7:99070324-99070337 chr7:99070325-99070336 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335
22	POLR2A	chr7:99069949-99070828	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr7:99069876-99071303	K562	blood:	n/a	n/a
24	SP1	chr7:99070017-99070784	A549	lung:	n/a	chr7:99070367-99070378 chr7:99070368-99070377 chr7:99070308-99070318 chr7:99070349-99070370 chr7:99070307-99070319 chr7:99070708-99070718 chr7:99070308-99070317 chr7:99070307-99070319 chr7:99070308-99070318 chr7:99070378-99070399 chr7:99070309-99070318 chr7:99070309-99070318
25	PML	chr7:99069941-99070823	K562	blood:	n/a	n/a
26	POLR2A	chr7:99068871-99071242	Raji	blood:	n/a	n/a
27	NR2F2	chr7:99068782-99071408	K562	blood:	n/a	n/a
28	MAX	chr7:99070025-99071310	ECC-1	luminal epithelium:	n/a	chr7:99070938-99070947 chr7:99070326-99070335 chr7:99070326-99070335 chr7:99070325-99070336
29	POLR2A	chr7:99069925-99071454	GM12892	blood:	n/a	n/a
30	SP2	chr7:99070017-99071145	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr7:99069886-99070769	K562	blood:	n/a	chr7:99070324-99070337 chr7:99070325-99070336 chr7:99070327-99070336 chr7:99070320-99070341 chr7:99070326-99070335 chr7:99070326-99070335
32	POLR2A	chr7:99069930-99071248	K562	blood:	n/a	n/a
33	TAF1	chr7:99070035-99070677	PFSK-1	brain:	n/a	n/a
34	PML	chr7:99069951-99071226	K562	blood:	n/a	n/a
35	REST	chr7:99069942-99070834	A549	lung:	n/a	chr7:99070316-99070325
36	REST	chr7:99069863-99071063	H1-neurons	neurons:	n/a	chr7:99070316-99070325
37	POLR2A	chr7:99070018-99070817	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:99069942-99070843	PFSK-1	brain:	n/a	n/a
39	TCF12	chr7:99069874-99071288	A549	lung:	n/a	chr7:99071031-99071038 chr7:99070467-99070477
40	GATA1	chr7:99069940-99071155	PBDE	blood:	n/a	chr7:99070206-99070213
41	MXI1	chr7:99069797-99071419	IMR90	lung:	n/a	n/a
42	TAF1	chr7:99070036-99070870	K562	blood:	n/a	n/a
43	POLR2A	chr7:99070034-99071286	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr7:99069968-99071199	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:99069220-99071254	K562	blood:	n/a	n/a
46	POLR2A	chr7:99069889-99070913	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr7:99069958-99071300	K562	blood:	n/a	n/a
48	POLR2A	chr7:99069912-99071380	U87	brain:	n/a	n/a
49	FOXM1	chr7:99069908-99070975	GM12878	blood:	n/a	n/a
50	USF1	chr7:99070020-99070648	A549	lung:	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	chr7:99068023..99071798-chr7:99154715..99160193,6	K562	blood:
6	chr7:99069533..99070527-chr7:99097855..99098458,2	NB4	blood:
7	chr7:99067101..99070259-chr7:99101537..99105672,3	K562	blood:
8	chr7:99055017..99057368-chr7:99068752..99070455,3	K562	blood:
9	chr7:99068972..99072429-chr7:99096212..99099578,8	K562	blood:
10	chr7:99005061..99007834-chr7:99068897..99070903,2	MCF-7	breast:
11	chr7:99069496..99072667-chr7:99072993..99076843,7	MCF-7	breast:
12	chr7:99068844..99070718-chr7:99094622..99097601,3	MCF-7	breast:
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	chr7:99051272..99054922-chr7:99066817..99070393,6	K562	blood:
18	chr7:99069546..99072504-chr7:99101462..99103609,2	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10239443	0.81[AFR][1000 genomes]
rs10249659	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12386578	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13438585	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28497153	0.84[AMR][1000 genomes]
rs3197990	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs45558438	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs45599236	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61435529	0.81[AFR][1000 genomes]
rs940334	0.93[AFR][1000 genomes];0.89[AMR][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

No data

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	chr7:99067600-99070800	Active TSS	HepG2	liver
4	chr7:99067600-99071400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:99068800-99070800	Active TSS	Liver	Liver
6	chr7:99068800-99070800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr7:99068800-99071000	Active TSS	Hela-S3	cervix
8	chr7:99068800-99071200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:99068800-99071600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:99068800-99071600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:99068800-99072000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:99069000-99070600	Active TSS	Primary B cells from cord blood	blood
13	chr7:99069000-99070600	Active TSS	Primary hematopoietic stem cells	blood
14	chr7:99069000-99070600	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr7:99069000-99070800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:99069000-99070800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:99069000-99070800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr7:99069000-99071000	Active TSS	Primary T cells from cord blood	blood
19	chr7:99069000-99071000	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:99069000-99071000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:99069000-99071000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:99069000-99071000	Active TSS	Brain Anterior Caudate	brain
23	chr7:99069000-99071000	Active TSS	Brain Hippocampus Middle	brain
24	chr7:99069000-99071000	Active TSS	Colon Smooth Muscle	Colon
25	chr7:99069000-99071000	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:99069000-99071000	Active TSS	Fetal Brain Male	brain
27	chr7:99069000-99071000	Active TSS	Fetal Lung	lung
28	chr7:99069000-99071000	Active TSS	Ovary	ovary
29	chr7:99069000-99071000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:99069000-99071000	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:99069000-99071000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr7:99069000-99071000	Active TSS	Thymus	Thymus
33	chr7:99069000-99071200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:99069000-99071200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:99069000-99071200	Active TSS	K562	blood
36	chr7:99069000-99071600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:99069000-99071600	Active TSS	A549	lung
38	chr7:99069000-99071800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr7:99069000-99071800	Active TSS	Fetal Kidney	kidney
40	chr7:99069200-99070400	Active TSS	Right Atrium	heart
41	chr7:99069200-99070600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:99069200-99070600	Active TSS	Placenta	Placenta
43	chr7:99069200-99070600	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:99069200-99070800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr7:99069200-99070800	Active TSS	Adipose Nuclei	Adipose
46	chr7:99069200-99071000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:99069200-99071000	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr7:99069200-99071000	Active TSS	Primary B cells from peripheral blood	blood
49	chr7:99069200-99071000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:99069200-99071000	Active TSS	Primary T helper cells PMA-I stimulated	--

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