Variant report

Variant	rs74050943
Chromosome Location	chr11:3923535-3923536
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	ZNF263	chr11:3923494-3924081	HEK293-T-REx	kidney:	n/a	n/a
2	KAP1	chr11:3922694-3924119	HEK293	kidney:	n/a	n/a
3	CBX3	chr11:3923469-3924017	K562	blood:	n/a	n/a
4	GATA3	chr11:3923391-3923554	SH-SY5Y	brain:	n/a	n/a
5	MAX	chr11:3923531-3923996	K562	blood:	n/a	n/a
6	SETDB1	chr11:3923432-3923913	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3914215..3916212-chr11:3921152..3923651,2	K562	blood:
2	chr11:3921286..3923795-chr11:3928569..3931190,3	K562	blood:
3	chr11:3856690..3859651-chr11:3923487..3926429,3	K562	blood:
4	chr11:3856690..3859651-chr11:3923487..3926429,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12271076	0.83[AMR][1000 genomes]
rs12271807	0.83[AMR][1000 genomes]
rs12294167	0.83[AMR][1000 genomes]
rs12294799	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:3902400-3923800	Weak transcription	Gastric	stomach
3	chr11:3907400-3923600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:3915800-3923800	Weak transcription	HMEC	breast
5	chr11:3915800-3924000	Weak transcription	HepG2	liver
6	chr11:3916600-3923800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:3916600-3923800	Weak transcription	Adipose Nuclei	Adipose
8	chr11:3916600-3923800	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:3916600-3923800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:3916600-3924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:3916600-3925400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:3916600-3925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
14	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
15	chr11:3916800-3925400	Weak transcription	Fetal Lung	lung
16	chr11:3918400-3923800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:3921200-3927800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:3921400-3923800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr11:3921400-3925200	Enhancers	Left Ventricle	heart
20	chr11:3921400-3926600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:3921400-3927400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:3921400-3928200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:3921400-3929400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:3921400-3929400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:3921400-3929600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:3921400-3929600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:3921400-3930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:3921600-3924400	Enhancers	GM12878-XiMat	blood
29	chr11:3921600-3924600	Enhancers	Primary B cells from cord blood	blood
30	chr11:3921600-3926000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:3921600-3926200	Enhancers	Lung	lung
32	chr11:3921600-3927400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:3921600-3929600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:3921800-3927400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:3921800-3927600	Enhancers	Thymus	Thymus
36	chr11:3921800-3929200	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:3921800-3929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:3921800-3929400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr11:3921800-3929400	Enhancers	K562	blood
40	chr11:3922000-3923800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:3922000-3927600	Enhancers	Fetal Thymus	thymus
42	chr11:3922000-3929200	Enhancers	Primary T cells from cord blood	blood
43	chr11:3922000-3929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:3922200-3924400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:3922200-3926000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:3922400-3927200	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:3922600-3924000	Enhancers	Rectal Smooth Muscle	rectum
48	chr11:3922600-3926000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:3922600-3927200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:3922600-3929200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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