Variant report

Variant	rs73116642
Chromosome Location	chr4:26860842-26860843
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	ZMIZ1	chr4:26860665-26860865	K562	blood:	n/a	n/a
2	CEBPB	chr4:26860592-26860926	IMR90	lung:	n/a	n/a
3	CEBPB	chr4:26860611-26860944	K562	blood:	n/a	n/a
4	POLR2A	chr4:26859063-26860891	K562	blood:	n/a	n/a
5	POLR2A	chr4:26860767-26860962	K562	blood:	n/a	n/a
6	MAFF	chr4:26860171-26860875	K562	blood:	n/a	n/a
7	HCFC1	chr4:26858885-26860877	Hela-S3	cervix:	n/a	n/a
8	CUX1	chr4:26860585-26861078	K562	blood:	n/a	n/a
9	EP300	chr4:26860459-26860887	K562	blood:	n/a	n/a
10	POLR2A	chr4:26860725-26861263	HepG2	liver:	n/a	n/a
11	MAFK	chr4:26860481-26860853	K562	blood:	n/a	n/a
12	ARID3A	chr4:26860284-26860859	K562	blood:	n/a	n/a
13	JUND	chr4:26858590-26860942	K562	blood:	n/a	n/a
14	POLR2A	chr4:26858643-26861233	PBDE	blood:	n/a	n/a
15	RCOR1	chr4:26860050-26861044	K562	blood:	n/a	n/a
16	KAP1	chr4:26860218-26861178	HEK293	kidney:	n/a	n/a
17	POLR2A	chr4:26858669-26861181	Raji	blood:	n/a	n/a
18	TAL1	chr4:26860569-26860910	K562	blood:	n/a	n/a
19	CEBPB	chr4:26860587-26860963	K562	blood:	n/a	n/a
20	GATA1	chr4:26859064-26863326	PBDE	blood:	n/a	chr4:26859422-26859430 chr4:26861271-26861284 chr4:26859453-26859461 chr4:26861273-26861281
21	BHLHE40	chr4:26860618-26860844	K562	blood:	n/a	n/a

Variant related genes	Relation type
STIM2	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	1.00[EUR][1000 genomes]
rs10031905	1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	1.00[EUR][1000 genomes]
rs28489605	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4129747	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4140681	1.00[EUR][1000 genomes]
rs4599399	1.00[EUR][1000 genomes]
rs4692016	1.00[EUR][1000 genomes]
rs4692017	1.00[EUR][1000 genomes]
rs4692018	1.00[EUR][1000 genomes]
rs4692138	1.00[EUR][1000 genomes]
rs55646519	1.00[EUR][1000 genomes]
rs56001106	1.00[EUR][1000 genomes]
rs56810203	1.00[EUR][1000 genomes]
rs57668778	1.00[EUR][1000 genomes]
rs57810647	1.00[EUR][1000 genomes]
rs59530500	1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[EUR][1000 genomes]
rs6841079	1.00[EUR][1000 genomes]
rs6858361	1.00[EUR][1000 genomes]
rs73116643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116653	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116655	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73116657	1.00[EUR][1000 genomes]
rs73116660	1.00[EUR][1000 genomes]
rs73116665	1.00[EUR][1000 genomes]
rs73116670	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73116672	1.00[EUR][1000 genomes]
rs73116675	1.00[EUR][1000 genomes]
rs7670520	1.00[EUR][1000 genomes]
rs7688601	1.00[EUR][1000 genomes]
rs887792	1.00[EUR][1000 genomes]
rs887794	1.00[EUR][1000 genomes]
rs9790760	1.00[EUR][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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26858600-26862800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:26858800-26861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:26859400-26861000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr4:26859400-26862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:26859600-26861000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr4:26859600-26861000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr4:26859600-26861000	Flanking Active TSS	HSMM	muscle
8	chr4:26859600-26861400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:26859600-26861800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr4:26859600-26861800	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr4:26859600-26861800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:26859600-26862000	Flanking Active TSS	Fetal Thymus	thymus
13	chr4:26859800-26861000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:26859800-26861000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:26859800-26861000	Flanking Active TSS	NHLF	lung
16	chr4:26859800-26861800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:26859800-26861800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr4:26859800-26861800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:26859800-26861800	Enhancers	Spleen	Spleen
20	chr4:26859800-26862000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:26859800-26862000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr4:26859800-26862000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr4:26859800-26862000	Flanking Active TSS	Dnd41	blood
24	chr4:26859800-26862000	Flanking Active TSS	Hela-S3	cervix
25	chr4:26860000-26861000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:26860000-26861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:26860000-26861600	Weak transcription	Aorta	Aorta
28	chr4:26860000-26861600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:26860000-26861800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:26860000-26861800	Weak transcription	Ovary	ovary
31	chr4:26860200-26861000	Enhancers	Gastric	stomach
32	chr4:26860200-26861000	Enhancers	Psoas Muscle	Psoas
33	chr4:26860200-26861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:26860200-26861400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:26860200-26861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:26860200-26861600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:26860200-26861600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:26860200-26861600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:26860200-26861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:26860200-26861600	Enhancers	Fetal Heart	heart
41	chr4:26860200-26861600	Enhancers	Left Ventricle	heart
42	chr4:26860200-26861600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:26860200-26861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:26860200-26861800	Enhancers	Small Intestine	intestine
45	chr4:26860200-26861800	Flanking Active TSS	NHEK	skin
46	chr4:26860200-26864600	Active TSS	Fetal Muscle Trunk	muscle
47	chr4:26860400-26861000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:26860400-26861200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr4:26860400-26861200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:26860400-26861400	Enhancers	H1 Cell Line	embryonic stem cell

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