Variant report

Variant	rs62176101
Chromosome Location	chr2:179280198-179280199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178974133..178981122-chr2:179276785..179281060,9	K562	blood:
2	chr2:179001333..179003104-chr2:179278827..179280728,2	MCF-7	breast:
3	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
4	chr2:179278797..179281186-chr2:180773348..180774954,2	K562	blood:
5	chr2:179278764..179281591-chr2:179306998..179309290,2	K562	blood:
6	chr2:179270312..179272501-chr2:179279008..179282360,3	K562	blood:
7	chr2:179277180..179281325-chr2:179314213..179317479,5	K562	blood:
8	chr2:179238564..179240183-chr2:179278791..179280896,2	K562	blood:
9	chr2:179277322..179281063-chr2:179341771..179345640,5	K562	blood:
10	chr2:179278151..179280958-chr2:179342121..179344961,4	K562	blood:
11	chr2:179278754..179281325-chr2:179313064..179317479,4	K562	blood:
12	chr2:179278648..179281403-chr2:179313491..179316018,3	MCF-7	breast:
13	chr2:179170847..179171754-chr2:179279256..179280544,7	MCF-7	breast:
14	chr2:178974707..178979925-chr2:179277151..179280371,6	K562	blood:
15	chr2:179278798..179282164-chr2:179284449..179287864,4	K562	blood:
16	chr2:179279482..179281290-chr2:179287442..179289650,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079150	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000155636	Chromatin interaction
ENSG00000204311	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2288323	0.88[EUR][1000 genomes]
rs3769867	0.89[AFR][1000 genomes]
rs57115861	0.91[AFR][1000 genomes]
rs62176091	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62176114	0.83[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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv979349	chr2:179279539-179296355	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179277600-179280200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179277600-179280400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:179277800-179280200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:179278800-179291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:179278800-179292800	Weak transcription	Spleen	Spleen
6	chr2:179278800-179293200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
8	chr2:179279200-179280200	Flanking Active TSS	Dnd41	blood
9	chr2:179279400-179291200	Weak transcription	Lung	lung
10	chr2:179279600-179280200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:179279600-179280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:179279600-179280200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:179279600-179280200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:179279600-179280200	Enhancers	Fetal Stomach	stomach
15	chr2:179279600-179280200	Flanking Active TSS	HSMM	muscle
16	chr2:179279600-179280200	Flanking Active TSS	HSMMtube	muscle
17	chr2:179279600-179280200	Flanking Active TSS	NHEK	skin
18	chr2:179279600-179291200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:179279600-179295000	Weak transcription	Right Ventricle	heart
20	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
21	chr2:179279800-179280200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:179279800-179280200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:179279800-179280200	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:179279800-179280200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:179279800-179280200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:179279800-179280200	Enhancers	Fetal Kidney	kidney
27	chr2:179279800-179280200	Enhancers	Fetal Lung	lung
28	chr2:179279800-179280200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:179279800-179280200	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:179279800-179280400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:179279800-179280800	Enhancers	Fetal Heart	heart
32	chr2:179279800-179282200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:179279800-179282200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:179279800-179283800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:179279800-179286200	Weak transcription	Aorta	Aorta
36	chr2:179279800-179291000	Weak transcription	Thymus	Thymus
37	chr2:179279800-179291200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:179279800-179291200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:179279800-179291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:179279800-179291200	Weak transcription	Left Ventricle	heart
41	chr2:179279800-179291200	Weak transcription	Ovary	ovary
42	chr2:179279800-179293800	Weak transcription	Placenta	Placenta
43	chr2:179279800-179295400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
45	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
46	chr2:179280000-179280200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:179280000-179280200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr2:179280000-179280200	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:179280000-179280200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:179280000-179280200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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