Variant report

Variant	rs13384665
Chromosome Location	chr2:99937059-99937060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99935942..99937476-chr2:99951400..99953140,2	K562	blood:
2	chr2:99936302..99938598-chr2:99944991..99946972,2	MCF-7	breast:
3	chr2:99936407..99940867-chr2:99951245..99954011,3	K562	blood:

Variant related genes	Relation type
ENSG00000115514	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10173883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10175852	0.94[ASN][1000 genomes]
rs10176205	0.94[ASN][1000 genomes]
rs10179343	0.94[ASN][1000 genomes]
rs10179435	0.94[ASN][1000 genomes]
rs10179697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10180138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10180688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10182492	1.00[JPT][hapmap]
rs10186223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10191001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs10207435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10210257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10210346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10496337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11123769	0.80[ASN][1000 genomes]
rs11123776	0.81[ASN][1000 genomes]
rs11123778	0.81[ASN][1000 genomes]
rs11123783	0.94[ASN][1000 genomes]
rs11123784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12162367	0.94[ASN][1000 genomes]
rs12328219	0.80[ASN][1000 genomes]
rs12623835	0.94[ASN][1000 genomes]
rs12992356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12993310	0.80[ASN][1000 genomes]
rs13001438	0.83[ASN][1000 genomes]
rs13028722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13393060	0.80[ASN][1000 genomes]
rs13394927	1.00[JPT][hapmap]
rs13401163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13402784	1.00[JPT][hapmap]
rs13404012	1.00[CEU][hapmap]
rs13405400	0.94[ASN][1000 genomes]
rs13409359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13415713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13416265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13419448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13420087	0.94[ASN][1000 genomes]
rs13420293	1.00[JPT][hapmap]
rs13426758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13427424	0.94[ASN][1000 genomes]
rs13429185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13429806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13430662	0.87[ASN][1000 genomes]
rs13430962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13431410	1.00[CHB][hapmap]
rs13432046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1487271	0.80[ASN][1000 genomes]
rs1565054	0.80[ASN][1000 genomes]
rs17022653	1.00[JPT][hapmap]
rs17022663	1.00[JPT][hapmap]
rs1843807	0.80[ASN][1000 genomes]
rs1882598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1922625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1922627	0.81[ASN][1000 genomes]
rs1948101	0.81[ASN][1000 genomes]
rs2309577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2309615	0.81[ASN][1000 genomes]
rs2309616	0.81[ASN][1000 genomes]
rs28369949	0.94[ASN][1000 genomes]
rs28382945	0.94[ASN][1000 genomes]
rs28382947	0.94[ASN][1000 genomes]
rs28745279	0.87[ASN][1000 genomes]
rs3087399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3792151	1.00[JPT][hapmap]
rs3828162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4522654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4850902	0.94[ASN][1000 genomes]
rs4851191	0.80[ASN][1000 genomes]
rs4851194	0.80[ASN][1000 genomes]
rs4851197	0.81[ASN][1000 genomes]
rs4851199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4851201	0.94[ASN][1000 genomes]
rs6542877	0.81[ASN][1000 genomes]
rs6706425	0.94[ASN][1000 genomes]
rs6712137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6721031	0.94[ASN][1000 genomes]
rs6726711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6745645	0.94[ASN][1000 genomes]
rs6749029	0.81[ASN][1000 genomes]
rs72815074	0.94[ASN][1000 genomes]
rs7567230	0.81[ASN][1000 genomes]
rs7567462	0.81[ASN][1000 genomes]
rs7569805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7579143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7579171	0.94[ASN][1000 genomes]
rs7579999	0.80[ASN][1000 genomes]
rs7581337	0.81[ASN][1000 genomes]
rs7582085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7582133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7584022	0.94[ASN][1000 genomes]
rs7584705	0.81[ASN][1000 genomes]
rs7585532	0.81[ASN][1000 genomes]
rs7599384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7599843	0.81[ASN][1000 genomes]
rs7602401	0.80[ASN][1000 genomes]
rs7603388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7606279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9308819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9308821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9308822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9308823	0.94[ASN][1000 genomes]
rs9973846	0.80[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv979073	chr2:99927377-99947554	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	5 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	chr2:99898400-99938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:99901600-99941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:99915000-99942800	Weak transcription	Aorta	Aorta
4	chr2:99917200-99948200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:99919200-99938600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:99921000-99942000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:99921600-99939200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:99922600-99939000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:99928200-99951800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:99932000-99951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:99933000-99949800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:99933000-99950000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:99933400-99938200	Strong transcription	Primary B cells from cord blood	blood
14	chr2:99933400-99940400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:99933400-99940600	Strong transcription	Left Ventricle	heart
16	chr2:99933400-99945800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:99933400-99946800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:99933400-99949000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:99933400-99949600	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:99933400-99949600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:99933400-99949800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:99933400-99950400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:99933400-99950600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:99933400-99950600	Strong transcription	Fetal Thymus	thymus
25	chr2:99933600-99937200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr2:99933600-99937200	Strong transcription	K562	blood
27	chr2:99933600-99937400	Strong transcription	Fetal Lung	lung
28	chr2:99933600-99938000	Strong transcription	A549	lung
29	chr2:99933600-99939200	Strong transcription	Primary T cells from cord blood	blood
30	chr2:99933600-99939200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:99933600-99949000	Strong transcription	Thymus	Thymus
32	chr2:99933600-99949400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:99933600-99949600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr2:99933600-99949600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:99933600-99949600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:99933600-99949600	Strong transcription	Liver	Liver
37	chr2:99933600-99949600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:99933600-99949800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:99933600-99949800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:99933600-99949800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:99933600-99949800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:99933600-99949800	Strong transcription	Adipose Nuclei	Adipose
43	chr2:99933600-99949800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:99933600-99949800	Strong transcription	Dnd41	blood
45	chr2:99933600-99949800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:99933600-99950000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:99933600-99950000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:99933600-99950000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:99933600-99950000	Strong transcription	GM12878-XiMat	blood
50	chr2:99933600-99950200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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