Variant report

Variant	rs7664810
Chromosome Location	chr4:26858609-26858610
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	MTA3	chr4:26858576-26859224	GM12878	blood:	n/a	n/a
2	BHLHE40	chr4:26858606-26859615	K562	blood:	n/a	chr4:26859181-26859197 chr4:26859222-26859238 chr4:26859227-26859243
3	MAZ	chr4:26858076-26859905	IMR90	lung:	n/a	chr4:26859161-26859168 chr4:26859193-26859203 chr4:26858393-26858406 chr4:26859115-26859124 chr4:26859157-26859166
4	WRNIP1	chr4:26858565-26858609	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:26858444-26859762	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:26858596-26860020	MCF10A-Er-Src	breast:	n/a	n/a
7	ZNF263	chr4:26858556-26859643	HEK293-T-REx	kidney:	n/a	chr4:26858705-26858714 chr4:26859469-26859478
8	JUND	chr4:26858590-26860942	K562	blood:	n/a	n/a
9	MXI1	chr4:26858426-26859879	IMR90	lung:	n/a	n/a
10	REST	chr4:26858439-26859806	H1-neurons	neurons:	n/a	chr4:26859124-26859137
11	POLR2A	chr4:26858466-26860195	GM12891	blood:	n/a	n/a
12	MXI1	chr4:26858240-26860638	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr4:26858599-26859630	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
STIM2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10004120	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10939140	0.95[ASN][1000 genomes]
rs28391037	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34506340	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7655631	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688454	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7688662	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7664810	RP11-293A21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7664810	STIM2	Cis_1M	lymphoblastoid	RTeQTL
rs7664810	RP11-293A21.1	cis	lung	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26840000-26858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:26842400-26858800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:26850200-26858800	Weak transcription	HSMM	muscle
4	chr4:26856600-26858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:26857000-26858800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:26858400-26858800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr4:26858400-26858800	Flanking Active TSS	Brain Angular Gyrus	brain
8	chr4:26858400-26858800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr4:26858400-26859000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:26858400-26859000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr4:26858400-26859000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:26858400-26859000	Flanking Active TSS	Dnd41	blood
13	chr4:26858400-26859600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr4:26858400-26859800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:26858400-26859800	Active TSS	Thymus	Thymus
16	chr4:26858400-26860000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:26858400-26860200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr4:26858400-26860600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:26858600-26858800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:26858600-26858800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr4:26858600-26858800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:26858600-26858800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:26858600-26858800	Enhancers	Aorta	Aorta
24	chr4:26858600-26858800	Flanking Active TSS	Fetal Brain Female	brain
25	chr4:26858600-26858800	Flanking Active TSS	Fetal Heart	heart
26	chr4:26858600-26858800	Enhancers	Small Intestine	intestine
27	chr4:26858600-26858800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
28	chr4:26858600-26859000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:26858600-26859000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr4:26858600-26859000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr4:26858600-26859000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr4:26858600-26859000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr4:26858600-26859000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:26858600-26859000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr4:26858600-26859000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr4:26858600-26859000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:26858600-26859000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr4:26858600-26859000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:26858600-26859000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:26858600-26859000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr4:26858600-26859000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr4:26858600-26859000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:26858600-26859000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:26858600-26859000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr4:26858600-26859000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr4:26858600-26859000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr4:26858600-26859000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr4:26858600-26859000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr4:26858600-26859000	Flanking Active TSS	Fetal Thymus	thymus
50	chr4:26858600-26859000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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