Variant report

Variant	rs11236840
Chromosome Location	chr11:76370317-76370318
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	MAX	chr11:76369995-76370500	A549	lung:	n/a	n/a
2	MAX	chr11:76370139-76370397	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr11:76370099-76370430	K562	blood:	n/a	chr11:76370312-76370323
4	MAX	chr11:76370116-76370450	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr11:76370171-76370493	A549	lung:	n/a	chr11:76370312-76370323
6	MYC	chr11:76370124-76370357	K562	blood:	n/a	n/a
7	E2F6	chr11:76370113-76370548	K562	blood:	n/a	chr11:76370312-76370323
8	E2F6	chr11:76369973-76370616	H1-hESC	embryonic stem cell:	n/a	chr11:76370312-76370323
9	MAX	chr11:76370071-76370427	K562	blood:	n/a	n/a
10	MAX	chr11:76370041-76370498	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:76370031-76370524	ECC-1	luminal epithelium:	n/a	n/a
12	E2F6	chr11:76370043-76370553	A549	lung:	n/a	chr11:76370312-76370323
13	MAX	chr11:76370041-76370439	K562	blood:	n/a	n/a
14	E2F6	chr11:76370059-76370525	H1-hESC	embryonic stem cell:	n/a	chr11:76370312-76370323
15	E2F6	chr11:76370007-76370570	K562	blood:	n/a	chr11:76370312-76370323
16	MYC	chr11:76370275-76370348	K562	blood:	n/a	n/a
17	MAX	chr11:76370050-76370479	MCF-7	breast:	n/a	n/a
18	MAX	chr11:76369974-76370561	A549	lung:	n/a	n/a
19	MAX	chr11:76370050-76370459	ECC-1	luminal epithelium:	n/a	n/a
20	MYC	chr11:76370128-76370439	K562	blood:	n/a	n/a
21	CBX3	chr11:76370085-76370536	K562	blood:	n/a	n/a
22	ZNF143	chr11:76370227-76370483	K562	blood:	n/a	n/a
23	MAX	chr11:76370115-76370451	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76369699..76372480-chr11:76377429..76382603,5	K562	blood:
2	chr11:76369874..76374262-chr11:76376488..76382524,6	K562	blood:

Variant related genes	Relation type
ENSG00000254810	TF binding region
ENSG00000137507	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17135049	1.00[EUR][1000 genomes]
rs56288835	0.92[EUR][1000 genomes]
rs58950823	0.92[EUR][1000 genomes]
rs6592654	1.00[EUR][1000 genomes]
rs6592655	1.00[EUR][1000 genomes]
rs7929765	1.00[EUR][1000 genomes]
rs7929996	1.00[EUR][1000 genomes]
rs7930476	1.00[EUR][1000 genomes]
rs7935413	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv555448	chr11:76354115-76383806	Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1047069	chr11:76367686-76420813	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76364800-76370600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr11:76366200-76370400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:76366200-76373000	Weak transcription	NH-A	brain
4	chr11:76366400-76381000	Weak transcription	Small Intestine	intestine
5	chr11:76366600-76371000	Genic enhancers	Lung	lung
6	chr11:76366600-76373600	Weak transcription	HUVEC	blood vessel
7	chr11:76367000-76376600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:76367200-76372800	Genic enhancers	Placenta	Placenta
9	chr11:76367400-76378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:76367600-76370800	Weak transcription	Gastric	stomach
11	chr11:76367800-76374000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:76367800-76377400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:76367800-76378000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:76367800-76378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:76368000-76376200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:76368000-76377000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:76368000-76377000	Weak transcription	Fetal Intestine Large	intestine
18	chr11:76368000-76378200	Weak transcription	Psoas Muscle	Psoas
19	chr11:76368200-76372600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:76368400-76372200	Strong transcription	Osteobl	bone
21	chr11:76368400-76372400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:76368400-76375400	Strong transcription	Left Ventricle	heart
23	chr11:76368400-76375800	Weak transcription	Right Atrium	heart
24	chr11:76368400-76376200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:76368400-76377000	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr11:76368400-76378200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:76368600-76372400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:76368600-76375000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:76368600-76376200	Strong transcription	Aorta	Aorta
30	chr11:76368600-76377800	Weak transcription	Fetal Kidney	kidney
31	chr11:76368800-76372000	Strong transcription	Right Ventricle	heart
32	chr11:76369000-76370600	Weak transcription	Fetal Intestine Small	intestine
33	chr11:76369000-76372600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:76369000-76376800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:76369200-76372600	Strong transcription	NHLF	lung
36	chr11:76369400-76374000	Weak transcription	NHDF-Ad	bronchial
37	chr11:76369400-76377400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:76369600-76372800	Strong transcription	Fetal Stomach	stomach
39	chr11:76369600-76374600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:76369600-76374800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:76369600-76374800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:76369800-76370400	Genic enhancers	Adipose Nuclei	Adipose
43	chr11:76369800-76371200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:76369800-76371400	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:76369800-76372200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr11:76369800-76372800	Strong transcription	Ovary	ovary
47	chr11:76369800-76374000	Weak transcription	Fetal Thymus	thymus
48	chr11:76370000-76371600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:76370200-76370400	Enhancers	Liver	Liver
50	chr11:76370200-76370400	Genic enhancers	Stomach Smooth Muscle	stomach

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