Variant report

Variant	rs11542367
Chromosome Location	chr2:99938565-99938566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000115514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17022584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087387	1.00[EUR][1000 genomes]
rs55720283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	0.83[EUR][1000 genomes]
rs61098335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707685	1.00[EUR][1000 genomes]
rs6723062	1.00[EUR][1000 genomes]
rs73964815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571186	1.00[EUR][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	chr2:99933400-99940400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:99933400-99940600	Strong transcription	Left Ventricle	heart
15	chr2:99933400-99945800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:99933400-99946800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:99933400-99949000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:99933400-99949600	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:99933400-99949600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:99933400-99949800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr2:99933400-99950400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:99933400-99950600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:99933400-99950600	Strong transcription	Fetal Thymus	thymus
24	chr2:99933600-99939200	Strong transcription	Primary T cells from cord blood	blood
25	chr2:99933600-99939200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:99933600-99949000	Strong transcription	Thymus	Thymus
27	chr2:99933600-99949400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:99933600-99949600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:99933600-99949600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:99933600-99949600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:99933600-99949600	Strong transcription	Liver	Liver
32	chr2:99933600-99949600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:99933600-99949800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:99933600-99949800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:99933600-99949800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:99933600-99949800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:99933600-99949800	Strong transcription	Adipose Nuclei	Adipose
38	chr2:99933600-99949800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:99933600-99949800	Strong transcription	Dnd41	blood
40	chr2:99933600-99949800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:99933600-99950000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:99933600-99950000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:99933600-99950000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:99933600-99950000	Strong transcription	GM12878-XiMat	blood
45	chr2:99933600-99950200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:99933600-99950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:99933600-99950400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:99933600-99950400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:99933600-99950400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:99933600-99950800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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