Variant report

Variant	rs55736658
Chromosome Location	chr2:7117463-7117464
allele	C/T
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	STAT3	chr2:7117267-7117560	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr2:7117457-7117549	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr2:7116083-7117782	MCF10A-Er-Src	breast:	n/a	chr2:7116822-7116830
4	REST	chr2:7117319-7117539	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr2:7117427-7117598	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:7117259-7117678	MCF10A-Er-Src	breast:	n/a	chr2:7117637-7117645 chr2:7117636-7117646 chr2:7117636-7117646
7	FOS	chr2:7117281-7117653	MCF10A-Er-Src	breast:	n/a	chr2:7117637-7117645 chr2:7117636-7117646 chr2:7117636-7117646
8	FOS	chr2:7117268-7117522	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr2:7117334-7117558	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr2:7117095-7117524	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr2:7117280-7117551	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNF144A	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1448869	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448870	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166967	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34393586	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3771999	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772000	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669122	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669123	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs881938	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:7085000-7120200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:7096800-7120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:7097200-7126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:7099000-7123600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
10	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:7104200-7120600	Strong transcription	Dnd41	blood
13	chr2:7105600-7120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:7106200-7123200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:7110600-7120200	Weak transcription	Fetal Thymus	thymus
17	chr2:7111000-7118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:7111600-7126400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:7111800-7118000	Weak transcription	Right Ventricle	heart
20	chr2:7112000-7118200	Weak transcription	Spleen	Spleen
21	chr2:7112400-7122400	Weak transcription	Fetal Kidney	kidney
22	chr2:7112400-7122800	Weak transcription	Ovary	ovary
23	chr2:7112600-7119600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:7113000-7122800	Weak transcription	Lung	lung
25	chr2:7113400-7120600	Weak transcription	Thymus	Thymus
26	chr2:7113600-7123600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:7114000-7118000	Weak transcription	Fetal Stomach	stomach
28	chr2:7114400-7126200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:7114600-7119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:7114600-7120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:7115400-7119600	Enhancers	Brain Substantia Nigra	brain
32	chr2:7115600-7118000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:7115800-7118800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:7115800-7119600	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
36	chr2:7116000-7117800	Enhancers	Fetal Heart	heart
37	chr2:7116000-7118200	Enhancers	A549	lung
38	chr2:7116000-7118400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:7116000-7119200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:7116000-7119600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:7116000-7120600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:7116200-7118200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:7116200-7119800	Enhancers	Brain Anterior Caudate	brain
44	chr2:7116400-7118400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:7116400-7120800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:7116600-7117600	Enhancers	HUVEC	blood vessel
47	chr2:7117000-7117800	Enhancers	NH-A	brain
48	chr2:7117000-7118200	Enhancers	Fetal Brain Male	brain
49	chr2:7117000-7118400	Enhancers	Brain Germinal Matrix	brain
50	chr2:7117000-7118400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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