Variant report

Variant	rs11236941
Chromosome Location	chr11:76510453-76510454
allele	C/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	NR3C1	chr11:76510082-76510733	A549	lung:	n/a	chr11:76510465-76510473 chr11:76510125-76510139
2	YY1	chr11:76510254-76510540	SK-N-SH_RA	brain:	n/a	chr11:76510409-76510423
3	JUN	chr11:76510364-76510525	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr11:76510051-76510822	ECC-1	luminal epithelium:	n/a	chr11:76510521-76510531
5	YY1	chr11:76510259-76510636	H1-hESC	embryonic stem cell:	n/a	chr11:76510409-76510423
6	POLR2A	chr11:76510155-76510545	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr11:76510172-76510681	H1-hESC	embryonic stem cell:	n/a	chr11:76510453-76510472 chr11:76510521-76510535
8	CTCF	chr11:76510420-76510570	WI-38	lung:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
9	CCNT2	chr11:76510166-76510724	K562	blood:	n/a	n/a
10	MAX	chr11:76510208-76510624	K562	blood:	n/a	n/a
11	USF1	chr11:76510283-76510532	A549	lung:	n/a	chr11:76510444-76510460
12	CTCF	chr11:76510420-76510570	GM12872	blood:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
13	FOXA1	chr11:76510277-76510783	HepG2	liver:	n/a	n/a
14	CTCF	chr11:76510440-76510590	BJ	skin:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
15	E2F6	chr11:76510305-76510552	K562	blood:	n/a	chr11:76510521-76510531
16	CTCF	chr11:76510400-76510550	GM12872	blood:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
17	CTCF	chr11:76510400-76510550	Hela-S3	cervix:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
18	CTCF	chr11:76510345-76510594	A549	lung:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
19	ZBTB7A	chr11:76510117-76510663	K562	blood:	n/a	chr11:76510456-76510465
20	USF1	chr11:76510296-76510686	A549	lung:	n/a	chr11:76510444-76510460
21	CTCF	chr11:76510351-76510585	HUVEC	blood vessel:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
22	MAZ	chr11:76509543-76510902	IMR90	lung:	n/a	n/a
23	CTCF	chr11:76509845-76510906	SK-N-SH	brain:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
24	CTCF	chr11:76510380-76510530	HA-sp	spinal cord:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
25	PAX5	chr11:76510304-76510605	GM12892	blood:	n/a	n/a
26	CTCF	chr11:76510420-76510570	HCPEpiC	choroid plexus:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
27	JUND	chr11:76510356-76510538	HepG2	liver:	n/a	n/a
28	RAD21	chr11:76509911-76510928	HCT-116	colon:	n/a	chr11:76510453-76510472 chr11:76510521-76510535 chr11:76510160-76510172
29	YY1	chr11:76510126-76510697	HepG2	liver:	n/a	chr11:76510409-76510423
30	CTCF	chr11:76510420-76510570	NHEK	skin:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
31	CTCF	chr11:76510270-76510693	Spleen_OC	spleen:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
32	POLR2A	chr11:76509962-76510568	K562	blood:	n/a	n/a
33	CTCF	chr11:76510400-76510550	GM12865	blood:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
34	SP1	chr11:76510085-76510817	A549	lung:	n/a	chr11:76510607-76510619
35	CHD2	chr11:76509925-76510631	K562	blood:	n/a	n/a
36	CTCF	chr11:76510325-76510617	Gliobla	brain:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
37	E2F6	chr11:76510327-76510513	K562	blood:	n/a	n/a
38	POLR2A	chr11:76510124-76510670	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMC3	chr11:76510295-76510646	HepG2	liver:	n/a	chr11:76510457-76510471
40	MAX	chr11:76510058-76510737	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:76510098-76510721	K562	blood:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
42	SRF	chr11:76510362-76510492	GM12878	blood:	n/a	n/a
43	CTCF	chr11:76510322-76510615	K562	blood:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
44	CTCF	chr11:76510420-76510570	SAEC	small airway:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
45	MYC	chr11:76510360-76510531	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr11:76510400-76510550	NHDF-neo	bronchial:	n/a	chr11:76510455-76510473 chr11:76510457-76510470 chr11:76510456-76510472
47	USF2	chr11:76510355-76510600	H1-hESC	embryonic stem cell:	n/a	chr11:76510444-76510460
48	RAD21	chr11:76510342-76510574	GM12878	blood:	n/a	chr11:76510453-76510472 chr11:76510521-76510535
49	ZBTB33	chr11:76509954-76510764	A549	lung:	n/a	n/a
50	ELK1	chr11:76510398-76510482	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
2	chr11:76508809..76510616-chr11:76521166..76523251,2	MCF-7	breast:
3	chr11:76444642..76445671-chr11:76509955..76510846,7	K562	blood:
4	chr11:76446441..76446993-chr11:76509968..76510808,2	K562	blood:

Variant related genes	Relation type
ENSG00000261578	TF binding region
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction

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

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

rs_ID	r²[population]
rs10899284	1.00[EUR][1000 genomes]
rs10899285	1.00[EUR][1000 genomes]
rs10899286	1.00[EUR][1000 genomes]
rs11236927	0.92[EUR][1000 genomes]
rs11236938	1.00[EUR][1000 genomes]
rs11236939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11236940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11236942	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61302956	1.00[EUR][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	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
2	chr11:76505200-76510800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:76507200-76511600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:76508000-76510800	Weak transcription	Aorta	Aorta
5	chr11:76508400-76510800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:76508800-76515200	Enhancers	Liver	Liver
7	chr11:76509400-76510800	Enhancers	Fetal Heart	heart
8	chr11:76509400-76510800	Enhancers	Spleen	Spleen
9	chr11:76509400-76512800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:76509400-76512800	Enhancers	Small Intestine	intestine
11	chr11:76509600-76510600	Enhancers	HepG2	liver
12	chr11:76509600-76510800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:76509600-76510800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:76509800-76510600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:76509800-76510800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:76509800-76510800	Enhancers	Fetal Brain Male	brain
17	chr11:76509800-76510800	Enhancers	Fetal Lung	lung
18	chr11:76509800-76511000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:76509800-76511000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr11:76509800-76511200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:76509800-76511800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:76509800-76515600	Enhancers	Stomach Mucosa	stomach
23	chr11:76509800-76515800	Enhancers	Pancreas	Pancrea
24	chr11:76510000-76510600	Active TSS	Primary T cells from cord blood	blood
25	chr11:76510000-76510600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:76510000-76510600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:76510000-76510600	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:76510000-76510600	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr11:76510000-76510800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr11:76510000-76510800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr11:76510000-76510800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr11:76510000-76510800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:76510000-76510800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:76510000-76510800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:76510000-76510800	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr11:76510000-76510800	Flanking Active TSS	Colonic Mucosa	Colon
37	chr11:76510000-76510800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr11:76510000-76510800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:76510000-76510800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr11:76510000-76510800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:76510000-76510800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:76510000-76510800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:76510000-76510800	Enhancers	Dnd41	blood
44	chr11:76510000-76510800	Active TSS	Hela-S3	cervix
45	chr11:76510000-76510800	Enhancers	HSMM	muscle
46	chr11:76510000-76510800	Flanking Active TSS	K562	blood
47	chr11:76510000-76510800	Enhancers	NH-A	brain
48	chr11:76510000-76510800	Enhancers	NHDF-Ad	bronchial
49	chr11:76510000-76511200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:76510200-76510600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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