Variant report

Variant	rs4692138
Chromosome Location	chr4:27005506-27005507
allele	A/C
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	RUNX3	chr4:27005155-27005750	GM12878	blood:	n/a	n/a
2	CTCF	chr4:27005400-27005550	HFF-Myc	foreskin:	n/a	n/a
3	RUNX3	chr4:27005171-27005671	GM12878	blood:	n/a	n/a
4	CTCF	chr4:27005380-27005530	HAc	cerebellar:	n/a	n/a
5	NFIC	chr4:27005122-27005699	GM12878	blood:	n/a	n/a
6	RAD21	chr4:27005259-27005522	IMR90	lung:	n/a	n/a
7	RAD21	chr4:27005281-27005529	GM12878	blood:	n/a	n/a
8	CTCF	chr4:27005260-27005567	IMR90	lung:	n/a	n/a
9	CTCF	chr4:27005360-27005510	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr4:27005400-27005550	AG04450	lung:	n/a	n/a
11	CTCF	chr4:27005350-27005510	GM19239	blood:	n/a	n/a
12	CTCF	chr4:27005360-27005510	AG04449	skin:	n/a	n/a
13	CTCF	chr4:27005360-27005510	AG09319	gingival:	n/a	n/a

Variant related genes	Relation type
STIM2	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10028164	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031905	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192241	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2309497	1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	1.00[EUR][1000 genomes]
rs4140681	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599399	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692016	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692017	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692018	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692135	0.93[AMR][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]
rs6448489	0.88[AMR][1000 genomes]
rs6448490	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841079	1.00[EUR][1000 genomes]
rs6858361	1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	1.00[EUR][1000 genomes]
rs73116657	1.00[EUR][1000 genomes]
rs73116660	1.00[EUR][1000 genomes]
rs73116665	1.00[EUR][1000 genomes]
rs73116670	1.00[EUR][1000 genomes]
rs73116672	1.00[EUR][1000 genomes]
rs73116675	1.00[EUR][1000 genomes]
rs7670520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7688601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887792	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887794	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9790760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9994911	0.88[AMR][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	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
3	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
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26978400-27019200	Weak transcription	Fetal Intestine Small	intestine
2	chr4:26980400-27019400	Weak transcription	Left Ventricle	heart
3	chr4:26985400-27019400	Weak transcription	Esophagus	oesophagus
4	chr4:26989000-27010000	Weak transcription	Thymus	Thymus
5	chr4:26989000-27010400	Weak transcription	Fetal Thymus	thymus
6	chr4:26989400-27024800	Weak transcription	Psoas Muscle	Psoas
7	chr4:26989600-27027000	Weak transcription	HepG2	liver
8	chr4:26994800-27011000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:26995000-27019000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:26995000-27028200	Weak transcription	Pancreas	Pancrea
11	chr4:26995200-27006600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:26995400-27009800	Weak transcription	Adipose Nuclei	Adipose
13	chr4:26996200-27015400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:26996400-27007600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:26996400-27026200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:26996600-27007600	Weak transcription	Ovary	ovary
17	chr4:26996600-27011800	Weak transcription	Brain Anterior Caudate	brain
18	chr4:26996600-27018400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:26996600-27019200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:26996800-27007200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:26996800-27019200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:26997000-27007600	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:26997200-27006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:26997400-27019200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:27001200-27029600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:27001600-27006800	Weak transcription	Liver	Liver
27	chr4:27001600-27019000	Weak transcription	Spleen	Spleen
28	chr4:27002000-27019200	Weak transcription	Lung	lung
29	chr4:27002000-27019200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:27002200-27006400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:27002200-27013000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:27002600-27006000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:27002600-27006600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr4:27002600-27011200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:27002800-27006000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:27002800-27011800	Weak transcription	Stomach Mucosa	stomach
37	chr4:27002800-27026000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:27003200-27006000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:27003400-27007800	Weak transcription	Aorta	Aorta
40	chr4:27003400-27011600	Strong transcription	Primary B cells from cord blood	blood
41	chr4:27003800-27005800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:27004000-27011000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:27004200-27006200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:27004200-27027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:27004400-27005600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:27004400-27005600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr4:27004400-27005800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:27004400-27005800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr4:27004400-27006000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:27004400-27006800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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