Variant report

Variant	rs7928407
Chromosome Location	chr11:9777127-9777128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:9776674-9779087	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:9776527-9782028	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:9776911-9777666	GM12892	blood:	n/a	n/a
4	NFATC1	chr11:9777056-9777570	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:9776291-9778152	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:9776705-9777177	GM12878	blood:	n/a	n/a
7	NFATC1	chr11:9776784-9777446	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:9775557-9779107	HUVEC	blood vessel:	n/a	n/a
9	STAT5A	chr11:9776997-9777492	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:9775144-9782147	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:9776829-9779197	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:9776824-9778560	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:9776906-9778727	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:9775224-9778035	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:9776225-9777710	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:9775330-9778222	GM12891	blood:	n/a	n/a
17	BCLAF1	chr11:9776810-9777315	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:9777127-9777334	Hela-S3	cervix:	n/a	n/a
19	BCL3	chr11:9776756-9777300	GM12878	blood:	n/a	n/a
20	STAT5A	chr11:9777022-9777485	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:9776683-9777340	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9775646..9777707-chr11:9778312..9780698,2	MCF-7	breast:
2	chr11:9774053..9775652-chr11:9775984..9777697,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SBF2-2	chr11:9776317-9778445	ENSG00000245522
2	lnc-SBF2-2	chr11:9776104-9777930	XLOC_009371
3	lnc-SBF2-2	chr11:9776676-9778445	ENSG00000245522

No data

Variant related genes	Relation type
SBF2-AS1	TF binding region
ENSG00000245522	Chromatin interaction
ENSG00000246273	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1056593	0.99[ASN][1000 genomes]
rs1056674	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11821544	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821692	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11825952	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11828354	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1496475	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532422	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16906967	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1845884	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607967	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2878800	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197265	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34696762	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817010	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55959510	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56029305	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56096143	0.81[ASN][1000 genomes]
rs56340721	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57070018	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57590863	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57650149	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843161	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57864531	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58073079	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58217715	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58765157	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59070186	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60195226	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60544361	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60548107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60601382	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60929104	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61059316	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61284089	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469272	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483649	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483650	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483651	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483654	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483655	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483657	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483658	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113055	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114514	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7935267	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939896	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940708	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7940826	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7946920	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7949343	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950075	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868860	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868861	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868862	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
2	chr11:9755000-9777600	Weak transcription	Colonic Mucosa	Colon
3	chr11:9761000-9777200	Weak transcription	Fetal Kidney	kidney
4	chr11:9762400-9777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:9762400-9777400	Weak transcription	Esophagus	oesophagus
6	chr11:9762400-9777400	Weak transcription	Right Ventricle	heart
7	chr11:9762400-9779400	Weak transcription	Liver	Liver
8	chr11:9762400-9779400	Weak transcription	Psoas Muscle	Psoas
9	chr11:9762600-9779200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:9762800-9779400	Weak transcription	Fetal Brain Female	brain
11	chr11:9763600-9779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:9770200-9777600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:9770200-9777600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:9770200-9779200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:9770200-9779400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:9770200-9779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:9770200-9779400	Weak transcription	Ovary	ovary
18	chr11:9770200-9779400	Weak transcription	Pancreas	Pancrea
19	chr11:9770200-9779600	Weak transcription	Small Intestine	intestine
20	chr11:9770400-9779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:9770400-9779400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:9770600-9777400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:9772400-9777200	Weak transcription	Fetal Stomach	stomach
24	chr11:9772400-9777200	Weak transcription	Spleen	Spleen
25	chr11:9772400-9779200	Weak transcription	Primary T cells from cord blood	blood
26	chr11:9772400-9779400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:9772400-9779400	Weak transcription	Gastric	stomach
28	chr11:9772600-9777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:9772600-9777200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:9773800-9778200	Enhancers	NH-A	brain
31	chr11:9773800-9779000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:9773800-9779400	Enhancers	HMEC	breast
33	chr11:9773800-9779800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:9774000-9777200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:9774000-9777400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:9774000-9777400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:9774000-9777400	Weak transcription	Lung	lung
38	chr11:9774000-9778200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:9774000-9778200	Enhancers	Osteobl	bone
40	chr11:9774000-9778400	Enhancers	A549	lung
41	chr11:9774000-9779000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:9774000-9779200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:9774000-9779400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:9774000-9779400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:9774000-9779400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:9774000-9779400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:9774000-9779400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:9774000-9779400	Weak transcription	Aorta	Aorta
49	chr11:9774000-9779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:9774000-9779400	Weak transcription	Thymus	Thymus

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