Variant report

Variant	rs12618219
Chromosome Location	chr2:7117209-7117210
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	STAT3	chr2:7116083-7117782	MCF10A-Er-Src	breast:	n/a	chr2:7116822-7116830
2	STAT3	chr2:7117095-7117524	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNF144A	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]
rs11675646	0.84[CEU][hapmap]
rs11676629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679967	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11689450	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11691419	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11695834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13011206	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019196	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs13030643	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs13035947	0.87[ASN][1000 genomes]
rs177922	0.83[ASN][1000 genomes]
rs1879058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460403	0.85[ASN][1000 genomes]
rs2460406	0.83[ASN][1000 genomes]
rs309313	0.83[ASN][1000 genomes]
rs309315	0.83[ASN][1000 genomes]
rs34429264	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34726512	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35505960	0.87[ASN][1000 genomes]
rs367906	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs369808	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3755511	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs3771993	0.83[ASN][1000 genomes]
rs3771998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378548	0.83[ASN][1000 genomes]
rs3821334	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3821335	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs389351	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs403407	0.83[ASN][1000 genomes]
rs405503	0.83[ASN][1000 genomes]
rs415204	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs418878	0.83[ASN][1000 genomes]
rs6719946	0.87[ASN][1000 genomes]
rs71436170	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73914451	0.87[ASN][1000 genomes]
rs881937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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:78 , 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	chr2:7101000-7117400	Weak transcription	Right Atrium	heart
8	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:7101200-7117400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
12	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:7102000-7117400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:7102200-7117400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:7104200-7120600	Strong transcription	Dnd41	blood
17	chr2:7105600-7120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:7106200-7123200	Strong transcription	Primary T cells from cord blood	blood
19	chr2:7109200-7117400	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:7109400-7117400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:7110600-7120200	Weak transcription	Fetal Thymus	thymus
23	chr2:7111000-7118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:7111600-7126400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:7111800-7117400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:7111800-7118000	Weak transcription	Right Ventricle	heart
27	chr2:7112000-7118200	Weak transcription	Spleen	Spleen
28	chr2:7112200-7117400	Weak transcription	Adipose Nuclei	Adipose
29	chr2:7112400-7117400	Weak transcription	Psoas Muscle	Psoas
30	chr2:7112400-7117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:7112400-7122400	Weak transcription	Fetal Kidney	kidney
32	chr2:7112400-7122800	Weak transcription	Ovary	ovary
33	chr2:7112600-7119600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:7113000-7122800	Weak transcription	Lung	lung
35	chr2:7113400-7120600	Weak transcription	Thymus	Thymus
36	chr2:7113600-7123600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:7114000-7118000	Weak transcription	Fetal Stomach	stomach
38	chr2:7114400-7126200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:7114600-7117400	Weak transcription	HMEC	breast
40	chr2:7114600-7119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:7114600-7120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:7115400-7119600	Enhancers	Brain Substantia Nigra	brain
43	chr2:7115600-7118000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:7115800-7118800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:7115800-7119600	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
47	chr2:7116000-7117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:7116000-7117800	Enhancers	Fetal Heart	heart
49	chr2:7116000-7118200	Enhancers	A549	lung
50	chr2:7116000-7118400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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