Variant report

Variant	rs7928229
Chromosome Location	chr11:3883563-3883564
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	WRNIP1	chr11:3883534-3883779	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3857725..3859378-chr11:3882979..3885143,2	K562	blood:
2	chr11:3880021..3883743-chr11:3910117..3913050,3	K562	blood:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11030046	1.00[EUR][1000 genomes]
rs12271827	1.00[EUR][1000 genomes]
rs12289770	1.00[EUR][1000 genomes]
rs56758577	1.00[EUR][1000 genomes]
rs7104387	1.00[EUR][1000 genomes]
rs7127987	1.00[EUR][1000 genomes]
rs7131500	1.00[EUR][1000 genomes]
rs74050924	1.00[EUR][1000 genomes]
rs74050926	1.00[EUR][1000 genomes]
rs7940082	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3877600-3883800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr11:3878200-3886800	Weak transcription	NHLF	lung
3	chr11:3879000-3883800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr11:3879400-3886600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:3879400-3887200	Weak transcription	Fetal Brain Female	brain
6	chr11:3879600-3883600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:3879800-3883800	Enhancers	Fetal Muscle Leg	muscle
8	chr11:3880600-3886800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:3881000-3883800	Enhancers	HepG2	liver
10	chr11:3881000-3884000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:3881000-3884200	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:3881000-3885200	Weak transcription	Aorta	Aorta
13	chr11:3881000-3886000	Weak transcription	HMEC	breast
14	chr11:3881000-3886600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:3881000-3886800	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:3881000-3888400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:3881200-3883800	Enhancers	Adipose Nuclei	Adipose
18	chr11:3881200-3883800	Enhancers	Liver	Liver
19	chr11:3881200-3884600	Weak transcription	Spleen	Spleen
20	chr11:3881200-3885200	Weak transcription	Right Ventricle	heart
21	chr11:3881200-3885600	Weak transcription	Lung	lung
22	chr11:3881200-3885800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:3881200-3886000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:3881200-3886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:3881200-3886000	Weak transcription	NHEK	skin
26	chr11:3881200-3886200	Weak transcription	NHDF-Ad	bronchial
27	chr11:3881200-3886400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:3881200-3886400	Weak transcription	HSMMtube	muscle
29	chr11:3881200-3886600	Weak transcription	Colonic Mucosa	Colon
30	chr11:3881200-3886600	Weak transcription	Placenta	Placenta
31	chr11:3881200-3886600	Weak transcription	Right Atrium	heart
32	chr11:3881200-3886600	Weak transcription	HSMM	muscle
33	chr11:3881200-3886800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:3881200-3886800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:3881200-3886800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:3881200-3886800	Weak transcription	Esophagus	oesophagus
37	chr11:3881200-3886800	Weak transcription	Gastric	stomach
38	chr11:3881200-3886800	Weak transcription	Pancreas	Pancrea
39	chr11:3881200-3887000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:3881200-3887000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:3881200-3888400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:3881200-3888600	Weak transcription	Ovary	ovary
43	chr11:3881400-3885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:3881400-3886000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:3881600-3883800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:3881800-3883800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:3881800-3883800	Enhancers	Left Ventricle	heart
48	chr11:3881800-3883800	Enhancers	Small Intestine	intestine
49	chr11:3882000-3883600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:3882000-3883800	Enhancers	H1 Cell Line	embryonic stem cell

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