Variant report

Variant	rs72968791
Chromosome Location	chr11:93861570-93861571
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	SRF	chr11:93861511-93861802	GM12878	blood:	n/a	chr11:93861690-93861708 chr11:93861694-93861708 chr11:93861690-93861704 chr11:93861691-93861709 chr11:93861694-93861705 chr11:93861688-93861705 chr11:93861691-93861705 chr11:93861693-93861706
2	MTA3	chr11:93861371-93863143	GM12878	blood:	n/a	n/a
3	TAF1	chr11:93861400-93862281	GM12878	blood:	n/a	n/a
4	TFAP2C	chr11:93861441-93862600	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:93861307-93862918	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:93861494-93862817	HUVEC	blood vessel:	n/a	n/a
7	YY1	chr11:93861566-93862681	GM12892	blood:	n/a	chr11:93862074-93862088 chr11:93862071-93862082 chr11:93862382-93862396 chr11:93862276-93862290 chr11:93862095-93862104
8	TBP	chr11:93861564-93862933	K562	blood:	n/a	n/a
9	GABPA	chr11:93861404-93862489	K562	blood:	n/a	n/a
10	POLR2A	chr11:93861401-93863038	GM12878	blood:	n/a	n/a
11	CTCF	chr11:93861480-93861630	SK-N-SH_RA	brain:	n/a	chr11:93861490-93861498
12	NFIC	chr11:93861453-93862667	GM12878	blood:	n/a	n/a
13	ELK1	chr11:93861515-93862249	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:93861468-93862926	GM12878	blood:	n/a	n/a
15	RELA	chr11:93861368-93863161	GM15510	blood:	n/a	n/a
16	MAX	chr11:93861363-93862927	A549	lung:	n/a	n/a
17	MAX	chr11:93861377-93862948	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:93861535-93862856	K562	blood:	n/a	n/a
19	RUNX3	chr11:93861323-93862950	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:93861541-93862443	NB4	blood:	n/a	n/a
21	USF2	chr11:93861375-93861573	GM12878	blood:	n/a	n/a
22	IRF1	chr11:93861568-93863007	K562	blood:	n/a	chr11:93861768-93861782 chr11:93862369-93862383 chr11:93862369-93862386 chr11:93862371-93862388 chr11:93862372-93862383 chr11:93862104-93862118 chr11:93862371-93862383 chr11:93862370-93862383 chr11:93862364-93862384 chr11:93862372-93862382 chr11:93862368-93862382 chr11:93862370-93862383 chr11:93862370-93862383
23	ZBTB7A	chr11:93861567-93862251	K562	blood:	n/a	chr11:93861650-93861659
24	GTF2F1	chr11:93861278-93862234	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBL1XR1	chr11:93861515-93862057	K562	blood:	n/a	n/a
26	ZEB1	chr11:93861385-93861760	GM12878	blood:	n/a	n/a
27	E2F6	chr11:93861450-93861744	K562	blood:	n/a	chr11:93861494-93861504
28	POLR2A	chr11:93861323-93863125	Hela-S3	cervix:	n/a	n/a
29	TBL1XR1	chr11:93861474-93863003	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:93861569-93862881	U87	brain:	n/a	n/a
31	POLR2A	chr11:93861377-93862905	GM18526	blood:	n/a	n/a
32	TBP	chr11:93861025-93862814	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:93861471-93862925	GM15510	blood:	n/a	n/a
34	POLR2A	chr11:93861445-93862837	GM12892	blood:	n/a	n/a
35	E2F4	chr11:93860985-93862565	MCF10A-Er-Src	breast:	n/a	chr11:93862095-93862104 chr11:93861494-93861504 chr11:93862160-93862172 chr11:93862161-93862172 chr11:93862142-93862153
36	REST	chr11:93861474-93862181	PFSK-1	brain:	n/a	chr11:93861730-93861738 chr11:93862087-93862100
37	MYBL2	chr11:93861539-93862263	HepG2	liver:	n/a	n/a
38	TAF1	chr11:93861372-93862960	H1-neurons	neurons:	n/a	n/a
39	MAX	chr11:93861364-93862893	K562	blood:	n/a	n/a
40	MAX	chr11:93861433-93862972	Hela-S3	cervix:	n/a	n/a
41	MAX	chr11:93861462-93862789	Hela-S3	cervix:	n/a	n/a
42	ATF2	chr11:93861445-93861731	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr11:93861535-93863040	H1-neurons	neurons:	n/a	chr11:93861730-93861738 chr11:93862087-93862100 chr11:93862703-93862716
44	NRF1	chr11:93861349-93862732	GM12878	blood:	n/a	n/a
45	E2F6	chr11:93861382-93862807	H1-hESC	embryonic stem cell:	n/a	chr11:93862095-93862104 chr11:93861494-93861504 chr11:93862160-93862172
46	RELA	chr11:93861332-93862854	GM12891	blood:	n/a	n/a
47	ELF1	chr11:93861361-93862866	GM12878	blood:	n/a	chr11:93862025-93862038
48	POLR2A	chr11:93861395-93862872	GM12878	blood:	n/a	n/a
49	MAX	chr11:93861447-93862876	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:93861348-93862955	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93861478..93862275-chr16:56642270..56643142,2	Hela-S3	cervix:
2	chr11:93844146..93846103-chr11:93859991..93861903,2	K562	blood:
3	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
4	chr11:93724420..93726827-chr11:93860849..93862959,2	MCF-7	breast:
5	chr11:93861273..93862040-chr8:141473868..141474564,2	Hela-S3	cervix:
6	chr1:151964881..151965549-chr11:93861551..93862232,2	Hela-S3	cervix:

Variant related genes	Relation type
PANX1	TF binding region
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000125148	Chromatin interaction
ENSG00000255995	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11828881	0.92[ASN][1000 genomes]
rs56723829	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58049964	0.89[ASN][1000 genomes]
rs58216749	0.88[ASN][1000 genomes]
rs58863592	0.89[ASN][1000 genomes]
rs58965645	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59768849	0.89[ASN][1000 genomes]
rs67060752	0.89[ASN][1000 genomes]
rs7102046	0.89[ASN][1000 genomes]
rs7120920	0.89[ASN][1000 genomes]
rs72968739	0.85[ASN][1000 genomes]
rs72968751	0.85[ASN][1000 genomes]
rs72968770	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72968772	0.85[ASN][1000 genomes]
rs72968780	0.85[ASN][1000 genomes]
rs72968785	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72968788	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72970708	0.92[ASN][1000 genomes]
rs72970709	0.92[ASN][1000 genomes]
rs72970719	0.89[ASN][1000 genomes]
rs72970727	0.89[ASN][1000 genomes]
rs73512252	0.89[ASN][1000 genomes]
rs7925027	0.92[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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93860600-93861600	Flanking Active TSS	Dnd41	blood
2	chr11:93860600-93861600	Flanking Active TSS	HMEC	breast
3	chr11:93860800-93861600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:93860800-93861600	Flanking Active TSS	Fetal Brain Male	brain
5	chr11:93860800-93861600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr11:93860800-93861600	Flanking Active TSS	Hela-S3	cervix
7	chr11:93860800-93861600	Flanking Active TSS	NHEK	skin
8	chr11:93860800-93861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:93860800-93861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:93860800-93862400	Active TSS	Fetal Brain Female	brain
11	chr11:93860800-93863200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:93861000-93861600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:93861000-93861600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:93861000-93861600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:93861000-93861600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:93861000-93861600	Active TSS	Brain Germinal Matrix	brain
17	chr11:93861000-93861600	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr11:93861000-93861600	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr11:93861000-93861600	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr11:93861000-93861600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:93861000-93861600	Flanking Active TSS	Osteobl	bone
22	chr11:93861000-93861800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr11:93861000-93861800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr11:93861000-93861800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:93861000-93861800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:93861000-93861800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:93861000-93862000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:93861000-93862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:93861000-93863200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:93861000-93863200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr11:93861000-93863200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:93861000-93863400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr11:93861000-93863600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:93861000-93863600	Active TSS	A549	lung
35	chr11:93861200-93861600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:93861200-93861600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:93861200-93861600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr11:93861200-93861600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr11:93861200-93861600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr11:93861200-93861600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:93861200-93861600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:93861200-93861600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr11:93861200-93861600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:93861200-93861600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:93861200-93861600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:93861200-93861600	Flanking Active TSS	Liver	Liver
47	chr11:93861200-93861600	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr11:93861200-93861600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr11:93861200-93861600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:93861200-93861600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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