Variant report

Variant	rs10835217
Chromosome Location	chr11:3887842-3887843
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	ELF1	chr11:3887465-3887891	K562	blood:	n/a	n/a
2	GABPA	chr11:3887519-3887922	K562	blood:	n/a	n/a
3	ZNF384	chr11:3887076-3888021	K562	blood:	n/a	n/a
4	ZNF384	chr11:3887453-3887962	GM12878	blood:	n/a	n/a
5	GABPA	chr11:3887480-3887894	K562	blood:	n/a	n/a
6	CEBPB	chr11:3887022-3887878	K562	blood:	n/a	n/a
7	CEBPB	chr11:3887412-3887891	K562	blood:	n/a	n/a
8	CBX3	chr11:3887374-3888090	K562	blood:	n/a	n/a
9	CEBPB	chr11:3887466-3887879	HepG2	liver:	n/a	n/a
10	NR2F2	chr11:3886710-3887900	K562	blood:	n/a	n/a
11	CEBPB	chr11:3887465-3887858	HepG2	liver:	n/a	n/a
12	RCOR1	chr11:3886989-3887913	K562	blood:	n/a	n/a
13	TEAD4	chr11:3887082-3887866	HepG2	liver:	n/a	n/a
14	CEBPB	chr11:3887467-3887880	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10160254	0.88[ASN][1000 genomes]
rs10160331	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10160415	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10160703	0.88[ASN][1000 genomes]
rs10160753	0.88[ASN][1000 genomes]
rs10767679	0.88[ASN][1000 genomes]
rs10767680	0.88[ASN][1000 genomes]
rs10767681	0.88[ASN][1000 genomes]
rs10767684	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10767685	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835226	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835231	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835232	0.88[ASN][1000 genomes]
rs10835236	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835238	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835239	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835245	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835246	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835247	0.88[ASN][1000 genomes]
rs10835248	0.88[ASN][1000 genomes]
rs10835249	0.88[ASN][1000 genomes]
rs10835250	0.88[ASN][1000 genomes]
rs10835252	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835256	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10835261	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835262	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11030122	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030128	0.80[ASN][1000 genomes]
rs11030176	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12275981	0.96[ASN][1000 genomes]
rs1869085	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4414209	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910582	0.85[ASN][1000 genomes]
rs4910584	0.88[ASN][1000 genomes]
rs7111609	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7118295	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7120336	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126252	0.81[ASN][1000 genomes]
rs7126870	0.82[ASN][1000 genomes]
rs7131437	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7131469	0.88[ASN][1000 genomes]
rs7932404	0.85[ASN][1000 genomes]
rs7952083	0.81[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10835217	STIM1	cis	Thyroid	GTEx
rs10835217	RRM1	cis	Thyroid	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3881000-3888400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:3881200-3888400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:3881200-3888600	Weak transcription	Ovary	ovary
4	chr11:3882200-3888200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:3882600-3889400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:3882800-3888800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:3883000-3893200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:3883000-3893400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:3883200-3889400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:3883200-3890200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:3883200-3893600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:3883400-3888600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:3883800-3893600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:3883800-3893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:3884400-3888600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:3884600-3889200	Enhancers	Spleen	Spleen
17	chr11:3884600-3889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:3884600-3889800	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:3884600-3890200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:3884800-3889000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:3884800-3889400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:3884800-3889600	Enhancers	Colon Smooth Muscle	Colon
23	chr11:3885000-3888400	Enhancers	Liver	Liver
24	chr11:3885200-3888600	Enhancers	Rectal Smooth Muscle	rectum
25	chr11:3885200-3889600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:3885200-3889800	Enhancers	Adipose Nuclei	Adipose
27	chr11:3885200-3889800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:3885400-3889600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:3885400-3889600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:3885400-3889800	Enhancers	Small Intestine	intestine
31	chr11:3885600-3889400	Enhancers	Left Ventricle	heart
32	chr11:3885600-3889400	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:3885600-3889800	Enhancers	Fetal Muscle Leg	muscle
34	chr11:3885600-3889800	Enhancers	Fetal Thymus	thymus
35	chr11:3885800-3889200	Enhancers	Aorta	Aorta
36	chr11:3885800-3889400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:3885800-3889600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:3886000-3889200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:3886000-3889400	Enhancers	HMEC	breast
40	chr11:3886000-3889600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:3886000-3889800	Enhancers	NHEK	skin
42	chr11:3886200-3889400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:3886200-3889400	Enhancers	NHDF-Ad	bronchial
44	chr11:3886200-3890400	Enhancers	Fetal Heart	heart
45	chr11:3886400-3889600	Enhancers	Fetal Lung	lung
46	chr11:3886400-3890200	Enhancers	Stomach Mucosa	stomach
47	chr11:3886400-3893600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:3886600-3888000	Enhancers	Dnd41	blood
49	chr11:3886600-3888600	Enhancers	A549	lung
50	chr11:3886600-3888800	Enhancers	Muscle Satellite Cultured Cells	--

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