Variant report

Variant	rs34947038
Chromosome Location	chr11:10478375-10478376
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	POLR2A	chr11:10476180-10478518	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:10478001-10478439	K562	blood:	n/a	n/a
3	BHLHE40	chr11:10476353-10478392	K562	blood:	n/a	n/a
4	RELA	chr11:10476246-10478481	GM19099	blood:	n/a	n/a
5	E2F6	chr11:10476529-10478454	K562	blood:	n/a	chr11:10478174-10478183
6	ZNF274	chr11:10477467-10478427	K562	blood:	n/a	n/a
7	JUN	chr11:10475959-10478519	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762
8	GATA1	chr11:10476276-10478557	K562	blood:	n/a	chr11:10477539-10477548 chr11:10477085-10477101 chr11:10478151-10478168
9	POLR2A	chr11:10476208-10478464	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:10476431-10478456	GM12892	blood:	n/a	n/a
11	GABPA	chr11:10478043-10478484	K562	blood:	n/a	n/a
12	STAT5A	chr11:10477929-10478463	K562	blood:	n/a	n/a
13	POLR2A	chr11:10478295-10478708	K562	blood:	n/a	n/a
14	POLR2A	chr11:10475934-10478530	K562	blood:	n/a	n/a
15	POLR2A	chr11:10476246-10478376	K562	blood:	n/a	n/a
16	POLR2A	chr11:10477273-10478568	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:10478024-10478408	K562	blood:	n/a	n/a
18	GATA1	chr11:10477087-10478523	PBDE	blood:	n/a	chr11:10477539-10477548 chr11:10478151-10478168
19	POLR2A	chr11:10478073-10478446	K562	blood:	n/a	n/a
20	JUND	chr11:10476349-10478384	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762 chr11:10476623-10476634
21	TEAD4	chr11:10477271-10478522	K562	blood:	n/a	n/a
22	POLR2A	chr11:10477111-10478375	GM12878	blood:	n/a	n/a
23	MYC	chr11:10476323-10478411	NB4	blood:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
24	TRIM28	chr11:10477848-10478450	K562	blood:	n/a	n/a
25	POLR2A	chr11:10477251-10478408	GM19193	blood:	n/a	n/a
26	GATA2	chr11:10477932-10478436	K562	blood:	n/a	chr11:10478151-10478168
27	PML	chr11:10477887-10478436	K562	blood:	n/a	n/a
28	MXI1	chr11:10476098-10479047	IMR90	lung:	n/a	chr11:10476482-10476491 chr11:10476971-10476980
29	MAX	chr11:10476308-10478460	K562	blood:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
30	CTCF	chr11:10478340-10478490	GM12872	blood:	n/a	n/a
31	POLR2A	chr11:10477180-10478501	PBDE	blood:	n/a	n/a
32	EP300	chr11:10476307-10478383	K562	blood:	n/a	n/a
33	CEBPD	chr11:10477910-10478538	K562	blood:	n/a	n/a
34	NR2F2	chr11:10477962-10478416	K562	blood:	n/a	n/a
35	RCOR1	chr11:10476383-10478413	K562	blood:	n/a	n/a
36	MAX	chr11:10476188-10478477	HCT-116	colon:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
37	CBX3	chr11:10476267-10478447	K562	blood:	n/a	n/a
38	RCOR1	chr11:10475631-10478499	IMR90	lung:	n/a	n/a
39	GATA2	chr11:10476494-10478393	K562	blood:	n/a	chr11:10477539-10477548 chr11:10477085-10477101 chr11:10477534-10477548 chr11:10478151-10478168
40	CEBPD	chr11:10477913-10478486	K562	blood:	n/a	n/a
41	POLR2A	chr11:10476479-10478455	GM18505	blood:	n/a	n/a
42	UBTF	chr11:10476412-10478380	K562	blood:	n/a	n/a
43	NR2F2	chr11:10477099-10478759	K562	blood:	n/a	n/a
44	MTA3	chr11:10477139-10478386	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:10477217-10478434	HL-60	blood:	n/a	n/a
46	TEAD4	chr11:10476234-10478555	K562	blood:	n/a	n/a
47	MAZ	chr11:10478106-10478436	K562	blood:	n/a	n/a
48	TAL1	chr11:10477024-10478507	K562	blood:	n/a	chr11:10477778-10477796 chr11:10478151-10478169
49	MAX	chr11:10476317-10478384	K562	blood:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
50	RELA	chr11:10477210-10478425	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10476262..10479144-chr11:10482528..10484355,2	K562	blood:
3	chr11:10477667..10479595-chr11:10827642..10829380,2	K562	blood:
4	chr11:10476884..10479039-chr11:10561132..10563728,3	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000110321	Chromatin interaction
ENSG00000110315	Chromatin interaction
ENSG00000133805	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11042810	1.00[AFR][1000 genomes]
rs11042813	1.00[AFR][1000 genomes]
rs12363993	1.00[AFR][1000 genomes]
rs12802491	1.00[AFR][1000 genomes]
rs12803441	1.00[AFR][1000 genomes]
rs34796012	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34827892	1.00[AFR][1000 genomes]
rs34972496	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
3	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:10475600-10478600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:10476200-10478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr11:10476200-10478400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:10476200-10478400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:10476200-10478800	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr11:10476400-10478400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr11:10476400-10478600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:10476400-10478600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:10476400-10479000	Flanking Active TSS	GM12878-XiMat	blood
13	chr11:10476400-10481400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:10476600-10478400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:10476600-10478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:10476600-10478400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:10476600-10478400	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr11:10476600-10478400	Enhancers	Spleen	Spleen
19	chr11:10476600-10478400	Flanking Active TSS	Osteobl	bone
20	chr11:10476600-10478600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:10476600-10478600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:10476600-10479000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:10476600-10479800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr11:10476600-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:10476800-10478400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:10476800-10478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:10476800-10478400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr11:10476800-10478400	Enhancers	Gastric	stomach
29	chr11:10476800-10478400	Enhancers	Small Intestine	intestine
30	chr11:10476800-10478600	Flanking Active TSS	NHLF	lung
31	chr11:10476800-10482600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:10477000-10478400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:10477000-10478400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr11:10477000-10478400	Flanking Active TSS	Esophagus	oesophagus
35	chr11:10477000-10479200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:10477000-10479600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr11:10477000-10481000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:10477000-10481400	Flanking Active TSS	Dnd41	blood
39	chr11:10477000-10481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:10477200-10478400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:10477200-10478400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:10477200-10478400	Enhancers	Liver	Liver
43	chr11:10477200-10478400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:10477200-10478400	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:10477200-10478600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:10477200-10478600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:10477200-10478800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr11:10477200-10478800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:10477200-10479000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:10477200-10479000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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