Variant report

Variant	rs13391794
Chromosome Location	chr2:99364579-99364580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99363918..99365909-chr2:99377187..99378693,2	MCF-7	breast:
2	chr2:99358144..99360845-chr2:99364555..99366061,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1016124	0.81[EUR][1000 genomes]
rs10177696	0.88[EUR][1000 genomes]
rs10194177	0.87[EUR][1000 genomes]
rs10196218	0.84[CHB][hapmap]
rs10199267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460485	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10496332	0.81[EUR][1000 genomes]
rs11123747	0.81[EUR][1000 genomes]
rs11123749	0.81[EUR][1000 genomes]
rs12471383	0.81[EUR][1000 genomes]
rs12477450	0.88[EUR][1000 genomes]
rs12615301	0.81[EUR][1000 genomes]
rs12622931	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13391483	0.81[EUR][1000 genomes]
rs13410406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428808	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1514916	0.88[EUR][1000 genomes]
rs1913621	0.81[EUR][1000 genomes]
rs28783173	0.81[EUR][1000 genomes]
rs41445250	0.88[EUR][1000 genomes]
rs4851150	0.81[EUR][1000 genomes]
rs4851154	0.81[EUR][1000 genomes]
rs58666702	0.88[EUR][1000 genomes]
rs60024860	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729151	0.83[EUR][1000 genomes]
rs6733957	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740656	0.83[EUR][1000 genomes]
rs6751196	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7420869	0.83[EUR][1000 genomes]
rs7558236	0.81[EUR][1000 genomes]
rs7577636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599792	0.81[EUR][1000 genomes]
rs7601040	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv1002315	chr2:99361475-99368975	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99354600-99364600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:99359600-99367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
5	chr2:99361200-99365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:99361400-99365400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:99361400-99365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:99361400-99374000	Weak transcription	Pancreas	Pancrea
9	chr2:99362400-99365200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:99362400-99372800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:99363400-99366000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:99364000-99364800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:99364000-99364800	Enhancers	Dnd41	blood
14	chr2:99364000-99365400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:99364000-99365800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:99364200-99364600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:99364200-99364600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:99364200-99364600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:99364200-99364600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:99364200-99364600	Enhancers	Brain Substantia Nigra	brain
21	chr2:99364200-99364600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr2:99364200-99364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:99364200-99364800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:99364200-99364800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:99364200-99364800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:99364200-99365000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:99364200-99365000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:99364200-99365000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:99364200-99365000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:99364200-99365200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:99364200-99365200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:99364200-99365200	Enhancers	Fetal Thymus	thymus
33	chr2:99364200-99365800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:99364200-99366000	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:99364200-99366000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:99364200-99366600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:99364200-99367200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:99364400-99364600	Enhancers	Adipose Nuclei	Adipose
39	chr2:99364400-99364600	Enhancers	Brain Anterior Caudate	brain
40	chr2:99364400-99364800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:99364400-99364800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:99364400-99364800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:99364400-99364800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:99364400-99364800	Bivalent Enhancer	HepG2	liver
45	chr2:99364400-99365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:99364400-99365200	Enhancers	Spleen	Spleen
47	chr2:99364400-99365200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:99364400-99365400	Enhancers	Placenta	Placenta
49	chr2:99364400-99365800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:99364400-99365800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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