Variant report

Variant	rs62176104
Chromosome Location	chr2:179290993-179290994
allele	A/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:79844632..79847414-chr2:179290464..179292247,2	MCF-7	breast:
2	chr2:179289040..179292034-chr2:179292711..179296035,3	MCF-7	breast:
3	chr2:179283998..179286629-chr2:179290509..179293142,4	K562	blood:
4	chr2:179286570..179288452-chr2:179289828..179294191,4	K562	blood:
5	chr2:179290672..179296705-chr2:179311873..179319969,11	K562	blood:
6	chr2:179290293..179297501-chr2:179307356..179318778,14	K562	blood:
7	chr2:179290477..179293762-chr2:179342502..179345312,3	MCF-7	breast:
8	chr2:179278084..179281306-chr2:179290138..179291877,3	K562	blood:
9	chr2:179289800..179292691-chr2:179294901..179296812,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223960	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000183684	Chromatin interaction
ENSG00000238082	Chromatin interaction
ENSG00000079150	Chromatin interaction

Extended variants
information (count: 8 )
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];0.96[ASN][1000 genomes]
rs62176101	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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179278800-179291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:179278800-179292800	Weak transcription	Spleen	Spleen
3	chr2:179278800-179293200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
5	chr2:179279400-179291200	Weak transcription	Lung	lung
6	chr2:179279600-179291200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:179279600-179295000	Weak transcription	Right Ventricle	heart
8	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
9	chr2:179279800-179291000	Weak transcription	Thymus	Thymus
10	chr2:179279800-179291200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:179279800-179291200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:179279800-179291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:179279800-179291200	Weak transcription	Left Ventricle	heart
14	chr2:179279800-179291200	Weak transcription	Ovary	ovary
15	chr2:179279800-179293800	Weak transcription	Placenta	Placenta
16	chr2:179279800-179295400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
18	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
19	chr2:179280000-179291200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:179280000-179291200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:179280000-179291200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:179280000-179291200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:179280000-179291200	Weak transcription	Fetal Thymus	thymus
24	chr2:179280000-179291200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:179280000-179291200	Weak transcription	NH-A	brain
26	chr2:179280000-179291400	Weak transcription	A549	lung
27	chr2:179280000-179291600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:179280000-179292600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:179280000-179293600	Weak transcription	Liver	Liver
30	chr2:179280000-179293800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:179280000-179294000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:179280000-179296800	Weak transcription	NHLF	lung
33	chr2:179280000-179297600	Weak transcription	Hela-S3	cervix
34	chr2:179280000-179298400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
36	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:179280200-179291200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:179280200-179291200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:179280200-179291200	Weak transcription	Fetal Stomach	stomach
40	chr2:179280200-179291200	Weak transcription	K562	blood
41	chr2:179280200-179291400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:179280200-179293800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:179280200-179293800	Weak transcription	HUVEC	blood vessel
44	chr2:179280200-179296600	Weak transcription	Fetal Kidney	kidney
45	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:179280400-179291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:179280400-179294000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:179280800-179291400	Weak transcription	HSMM	muscle
49	chr2:179280800-179291600	Weak transcription	Fetal Heart	heart
50	chr2:179280800-179294000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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