Variant report

Variant	rs3087895
Chromosome Location	chr2:30381953-30381954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
2	chr2:30372153..30375046-chr2:30381081..30382923,2	MCF-7	breast:
3	chr2:30377733..30380914-chr2:30380997..30384008,4	MCF-7	breast:
4	chr2:30376495..30380497-chr2:30381287..30386120,8	K562	blood:
5	chr2:30377345..30379521-chr2:30379868..30383212,4	K562	blood:

Variant related genes	Relation type
ENSG00000233862	Chromatin interaction
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1137288	0.83[ASN][1000 genomes]
rs11886753	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12463847	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469080	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13397907	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403749	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009192	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2084335	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754535	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951983	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952095	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952096	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952098	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952102	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55735005	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59074474	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7567202	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600457	0.83[ASN][1000 genomes]
rs7603324	0.83[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:30371800-30385000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:30373800-30385200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:30374000-30385200	Strong transcription	Placenta	Placenta
6	chr2:30374000-30386000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:30374000-30387400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:30374000-30387400	Weak transcription	Psoas Muscle	Psoas
9	chr2:30374000-30387400	Weak transcription	Hela-S3	cervix
10	chr2:30374200-30382600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:30374200-30382800	Weak transcription	K562	blood
12	chr2:30374400-30383400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:30374400-30386200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:30374600-30386200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:30374800-30384400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:30374800-30387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:30375000-30383800	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:30375200-30384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:30376200-30382200	Strong transcription	Primary B cells from cord blood	blood
20	chr2:30376200-30384200	Strong transcription	HSMM	muscle
21	chr2:30376400-30384000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:30376400-30384800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:30376800-30384800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30377800-30384600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:30378000-30384000	Weak transcription	Small Intestine	intestine
26	chr2:30378400-30386000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:30378400-30386000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:30378600-30383400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:30378600-30383600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:30378600-30383600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:30378600-30383600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:30378600-30383600	Strong transcription	Brain Cingulate Gyrus	brain
33	chr2:30378600-30384200	Strong transcription	Adipose Nuclei	Adipose
34	chr2:30378600-30384800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:30378600-30386200	Strong transcription	Primary T cells from cord blood	blood
36	chr2:30378800-30382200	Strong transcription	Left Ventricle	heart
37	chr2:30378800-30383400	Strong transcription	NHEK	skin
38	chr2:30378800-30383600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:30378800-30383600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:30378800-30384600	Strong transcription	NHDF-Ad	bronchial
41	chr2:30378800-30385000	Strong transcription	Fetal Thymus	thymus
42	chr2:30378800-30385800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:30378800-30386000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:30379000-30382400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:30379000-30383200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:30379000-30383600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:30379000-30383600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:30379200-30383400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:30379200-30383400	Strong transcription	NH-A	brain
50	chr2:30379200-30383600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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