Variant report

Variant	rs11030122
Chromosome Location	chr11:3887176-3887177
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	BHLHE40	chr11:3887147-3887478	GM12878	blood:	n/a	n/a
2	STAT5A	chr11:3886896-3887751	K562	blood:	n/a	n/a
3	JUN	chr11:3886925-3887375	K562	blood:	n/a	chr11:3887201-3887215
4	TEAD4	chr11:3887134-3887576	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr11:3887069-3887377	GM12891	blood:	n/a	chr11:3887357-3887370
6	JUN	chr11:3886910-3887454	HUVEC	blood vessel:	n/a	chr11:3887201-3887215
7	TBL1XR1	chr11:3886614-3887655	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:3886821-3887727	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr11:3887057-3887259	MCF10A-Er-Src	breast:	n/a	chr11:3887201-3887215
10	JUN	chr11:3886993-3887377	K562	blood:	n/a	chr11:3887201-3887215
11	MAX	chr11:3886995-3887290	K562	blood:	n/a	n/a
12	TEAD4	chr11:3886951-3887744	K562	blood:	n/a	n/a
13	JUN	chr11:3886970-3887381	K562	blood:	n/a	chr11:3887201-3887215
14	ZNF384	chr11:3887076-3888021	K562	blood:	n/a	n/a
15	FOSL1	chr11:3886994-3887329	K562	blood:	n/a	chr11:3887201-3887215
16	ATF3	chr11:3887026-3887391	K562	blood:	n/a	n/a
17	FOS	chr11:3887010-3887377	MCF10A-Er-Src	breast:	n/a	chr11:3887201-3887215
18	TEAD4	chr11:3886851-3887813	K562	blood:	n/a	n/a
19	SMC3	chr11:3887105-3887453	GM12878	blood:	n/a	n/a
20	CTCF	chr11:3887120-3887270	AG10803	skin:	n/a	n/a
21	JUN	chr11:3886969-3887398	K562	blood:	n/a	chr11:3887201-3887215
22	FOSL1	chr11:3886884-3887358	K562	blood:	n/a	chr11:3887201-3887215
23	RCOR1	chr11:3887064-3887656	K562	blood:	n/a	n/a
24	CEBPB	chr11:3887022-3887878	K562	blood:	n/a	n/a
25	CEBPB	chr11:3886999-3887349	K562	blood:	n/a	n/a
26	RCOR1	chr11:3887155-3887443	GM12878	blood:	n/a	n/a
27	FOS	chr11:3887028-3887383	MCF10A-Er-Src	breast:	n/a	chr11:3887201-3887215
28	NR2F2	chr11:3886710-3887900	K562	blood:	n/a	n/a
29	NFIC	chr11:3886969-3887713	GM12878	blood:	n/a	n/a
30	GATA2	chr11:3886840-3887573	HUVEC	blood vessel:	n/a	chr11:3887154-3887171
31	HDAC2	chr11:3886846-3887361	K562	blood:	n/a	n/a
32	NFIC	chr11:3886957-3887439	ECC-1	luminal epithelium:	n/a	n/a
33	KAP1	chr11:3886863-3887632	HEK293	kidney:	n/a	n/a
34	UBTF	chr11:3887175-3887616	K562	blood:	n/a	n/a
35	POLR2A	chr11:3887040-3887336	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:3886840-3887549	HUVEC	blood vessel:	n/a	n/a
37	MAFK	chr11:3887070-3887494	IMR90	lung:	n/a	n/a
38	TAL1	chr11:3886970-3887781	K562	blood:	n/a	chr11:3887153-3887171
39	ELK1	chr11:3887062-3887548	GM12878	blood:	n/a	n/a
40	MYC	chr11:3887001-3887331	MCF10A-Er-Src	breast:	n/a	n/a
41	UBTF	chr11:3887014-3887800	K562	blood:	n/a	n/a
42	ELF1	chr11:3886950-3887423	GM12878	blood:	n/a	chr11:3887201-3887214 chr11:3887203-3887214 chr11:3887203-3887214
43	PML	chr11:3886946-3887431	K562	blood:	n/a	n/a
44	RUNX3	chr11:3886866-3887656	GM12878	blood:	n/a	n/a
45	RCOR1	chr11:3886989-3887913	K562	blood:	n/a	n/a
46	FOS	chr11:3886914-3887483	HUVEC	blood vessel:	n/a	chr11:3887201-3887215 chr11:3887464-3887473
47	TBL1XR1	chr11:3886982-3887763	K562	blood:	n/a	n/a
48	TEAD4	chr11:3887082-3887866	HepG2	liver:	n/a	n/a
49	JUN	chr11:3886983-3887395	K562	blood:	n/a	chr11:3887201-3887215
50	PAX5	chr11:3887014-3887356	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10160254	0.89[ASN][1000 genomes]
rs10160331	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10160415	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10160703	0.89[ASN][1000 genomes]
rs10160753	0.89[ASN][1000 genomes]
rs10767679	0.89[ASN][1000 genomes]
rs10767680	0.89[ASN][1000 genomes]
rs10767681	0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs10767684	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10767685	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10835217	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835226	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835231	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835232	0.89[ASN][1000 genomes]
rs10835236	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835238	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835239	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835245	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835247	0.89[ASN][1000 genomes]
rs10835248	0.89[ASN][1000 genomes]
rs10835249	0.89[ASN][1000 genomes]
rs10835250	0.89[ASN][1000 genomes]
rs10835252	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835256	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10835261	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10835262	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030176	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11030209	1.00[CEU][hapmap]
rs12275981	0.97[ASN][1000 genomes]
rs1869084	1.00[CEU][hapmap]
rs1869085	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4414209	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4622250	1.00[CEU][hapmap]
rs4910582	0.84[ASN][1000 genomes]
rs4910584	0.89[ASN][1000 genomes]
rs7111609	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7113148	1.00[CEU][hapmap]
rs7118295	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7120336	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126252	0.81[ASN][1000 genomes]
rs7126870	0.82[ASN][1000 genomes]
rs7131437	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7131469	0.89[ASN][1000 genomes]
rs7932404	0.85[ASN][1000 genomes]
rs7952083	0.82[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
rs11030122	RRM1	cis	Thyroid	GTEx
rs11030122	STIM1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3879400-3887200	Weak transcription	Fetal Brain Female	brain
2	chr11:3881000-3888400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:3881200-3888400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:3881200-3888600	Weak transcription	Ovary	ovary
5	chr11:3882200-3888200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:3882600-3889400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:3882800-3888800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:3883000-3893200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:3883000-3893400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:3883200-3889400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:3883200-3890200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:3883200-3893600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:3883400-3888600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:3883800-3893600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:3883800-3893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:3884400-3888600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:3884600-3889200	Enhancers	Spleen	Spleen
18	chr11:3884600-3889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:3884600-3889800	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:3884600-3890200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:3884800-3889000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:3884800-3889400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:3884800-3889600	Enhancers	Colon Smooth Muscle	Colon
24	chr11:3885000-3888400	Enhancers	Liver	Liver
25	chr11:3885200-3887600	Enhancers	Psoas Muscle	Psoas
26	chr11:3885200-3888600	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:3885200-3889600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:3885200-3889800	Enhancers	Adipose Nuclei	Adipose
29	chr11:3885200-3889800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:3885400-3887600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:3885400-3887600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:3885400-3889600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:3885400-3889600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:3885400-3889800	Enhancers	Small Intestine	intestine
35	chr11:3885600-3887600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:3885600-3887800	Enhancers	Stomach Smooth Muscle	stomach
37	chr11:3885600-3889400	Enhancers	Left Ventricle	heart
38	chr11:3885600-3889400	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:3885600-3889800	Enhancers	Fetal Muscle Leg	muscle
40	chr11:3885600-3889800	Enhancers	Fetal Thymus	thymus
41	chr11:3885800-3889200	Enhancers	Aorta	Aorta
42	chr11:3885800-3889400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:3885800-3889600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:3886000-3887600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr11:3886000-3889200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:3886000-3889400	Enhancers	HMEC	breast
47	chr11:3886000-3889600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:3886000-3889800	Enhancers	NHEK	skin
49	chr11:3886200-3887600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:3886200-3889400	Enhancers	Rectal Mucosa Donor 31	rectum

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