Variant report

Variant	rs4667113
Chromosome Location	chr2:187558284-187558285
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	MYC	chr2:187558147-187558821	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr2:187558205-187559156	H1-hESC	embryonic stem cell:	n/a	chr2:187558849-187558863 chr2:187558842-187558856 chr2:187558811-187558825 chr2:187558843-187558857 chr2:187558348-187558358 chr2:187558845-187558854 chr2:187558848-187558857 chr2:187558876-187558885
3	TAF1	chr2:187558202-187559390	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr2:187558190-187559113	HCT-116	colon:	n/a	chr2:187558410-187558421 chr2:187558408-187558422 chr2:187558410-187558420 chr2:187558410-187558420 chr2:187558409-187558422 chr2:187558410-187558419 chr2:187558410-187558421 chr2:187558731-187558745
5	REST	chr2:187558107-187560631	H1-neurons	neurons:	n/a	chr2:187558532-187558539
6	SIN3A	chr2:187558268-187559602	H1-hESC	embryonic stem cell:	n/a	chr2:187558814-187558823
7	E2F6	chr2:187558262-187558987	A549	lung:	n/a	chr2:187558846-187558856 chr2:187558845-187558854
8	TBP	chr2:187558280-187559591	H1-hESC	embryonic stem cell:	n/a	n/a
9	HA-E2F1	chr2:187558274-187559287	MCF-7	breast:	n/a	chr2:187558846-187558856 chr2:187558845-187558854
10	YY1	chr2:187558227-187558981	H1-hESC	embryonic stem cell:	n/a	chr2:187558849-187558863 chr2:187558842-187558856 chr2:187558811-187558825 chr2:187558843-187558857 chr2:187558348-187558358 chr2:187558845-187558854 chr2:187558848-187558857 chr2:187558876-187558885
11	MAX	chr2:187558245-187559510	HCT-116	colon:	n/a	n/a
12	ZBTB7A	chr2:187558278-187559002	ECC-1	luminal epithelium:	n/a	chr2:187558813-187558822
13	POLR2A	chr2:187558276-187559466	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:187558183-187559492	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr2:187557978-187560961	SK-N-SH	brain:	n/a	n/a
16	EGR1	chr2:187558221-187558566	K562	blood:	n/a	chr2:187558410-187558421 chr2:187558408-187558422 chr2:187558410-187558420 chr2:187558410-187558420 chr2:187558409-187558422 chr2:187558410-187558419 chr2:187558410-187558421

Variant related genes	Relation type
FAM171B	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10165992	0.92[ASN][1000 genomes]
rs1072901	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931253	0.81[ASN][1000 genomes]
rs12471718	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12475476	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12618322	0.81[ASN][1000 genomes]
rs12620821	0.81[ASN][1000 genomes]
rs13020260	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17406229	0.81[ASN][1000 genomes]
rs17406346	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012128	0.87[ASN][1000 genomes]
rs2012401	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2121975	0.81[ASN][1000 genomes]
rs2121976	0.98[ASN][1000 genomes]
rs2276562	0.98[ASN][1000 genomes]
rs2290083	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2595383	0.85[ASN][1000 genomes]
rs2595384	0.87[EUR][1000 genomes]
rs2595386	0.86[ASN][1000 genomes]
rs2595395	0.95[ASN][1000 genomes]
rs2682863	0.94[ASN][1000 genomes]
rs2682868	0.96[ASN][1000 genomes]
rs2682873	0.96[ASN][1000 genomes]
rs3114941	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35540241	0.88[ASN][1000 genomes]
rs3768785	0.88[ASN][1000 genomes]
rs41265951	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666713	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667112	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55781198	0.88[ASN][1000 genomes]
rs55961288	0.82[ASN][1000 genomes]
rs62173041	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62173045	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62196185	0.96[ASN][1000 genomes]
rs6705757	0.82[ASN][1000 genomes]
rs718259	0.86[ASN][1000 genomes]
rs9967663	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
2	chr2:187554400-187558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:187556400-187558400	Weak transcription	HSMMtube	muscle
4	chr2:187558000-187558400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:187558000-187558400	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:187558000-187558600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:187558000-187558600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:187558000-187559800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:187558000-187560200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:187558000-187560400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:187558000-187560400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:187558000-187560400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:187558000-187560400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:187558000-187560600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:187558000-187563000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:187558200-187558400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:187558200-187558400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:187558200-187558400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:187558200-187558400	Enhancers	Colonic Mucosa	Colon
20	chr2:187558200-187558400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:187558200-187558400	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr2:187558200-187558400	Enhancers	Placenta	Placenta
23	chr2:187558200-187558400	Flanking Active TSS	Fetal Thymus	thymus
24	chr2:187558200-187558400	Weak transcription	Lung	lung
25	chr2:187558200-187558400	Bivalent Enhancer	Thymus	Thymus
26	chr2:187558200-187558400	Bivalent Enhancer	HepG2	liver
27	chr2:187558200-187558400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr2:187558200-187558600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:187558200-187558600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:187558200-187558600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:187558200-187558600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:187558200-187558600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:187558200-187558600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:187558200-187558600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:187558200-187558600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr2:187558200-187558600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:187558200-187558600	Flanking Active TSS	Fetal Brain Female	brain
38	chr2:187558200-187558600	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr2:187558200-187558600	Flanking Active TSS	A549	lung
40	chr2:187558200-187558600	Flanking Active TSS	Dnd41	blood
41	chr2:187558200-187558600	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:187558200-187558600	Flanking Active TSS	HUVEC	blood vessel
43	chr2:187558200-187558600	Flanking Active TSS	NH-A	brain
44	chr2:187558200-187558600	Flanking Active TSS	NHEK	skin
45	chr2:187558200-187558600	Flanking Active TSS	Osteobl	bone
46	chr2:187558200-187558800	Enhancers	Primary B cells from cord blood	blood
47	chr2:187558200-187558800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:187558200-187558800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:187558200-187558800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:187558200-187558800	Flanking Active TSS	Fetal Brain Male	brain

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