Variant report

Variant	rs62182093
Chromosome Location	chr2:173037420-173037421
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173036908..173037998-chr2:173330152..173331274,5	MCF-7	breast:
2	chr2:173036822..173037869-chr2:173326506..173327964,7	K562	blood:
3	chr2:173036864..173037750-chr2:173291670..173292854,3	MCF-7	breast:
4	chr2:173036888..173037854-chr2:173330096..173331085,8	K562	blood:
5	chr2:173036913..173037884-chr2:173348726..173349432,3	MCF-7	breast:
6	chr2:173036862..173038555-chr2:173090305..173091655,7	MCF-7	breast:
7	chr2:173036872..173037875-chr2:173325699..173327479,12	MCF-7	breast:
8	chr2:173036066..173038530-chr2:173327913..173329630,2	MCF-7	breast:
9	chr2:173037340..173040256-chr2:173329062..173331322,2	MCF-7	breast:
10	chr2:173036829..173037908-chr2:173326699..173327718,4	MCF-7	breast:
11	chr2:173037237..173037821-chr2:173330026..173330968,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091409	Chromatin interaction
ENSG00000232788	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10183800	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10186626	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13034105	0.84[AFR][1000 genomes]
rs13389254	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13400011	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13432384	0.93[ASN][1000 genomes]
rs6433333	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706297	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6718762	0.88[ASN][1000 genomes]
rs6738987	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6751639	0.93[ASN][1000 genomes]
rs6751644	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7607929	0.94[AMR][1000 genomes];0.97[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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173036800-173037800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr2:173036800-173038000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr2:173036800-173038000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:173037000-173037600	Active TSS	Esophagus	oesophagus
5	chr2:173037000-173037800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:173037000-173037800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:173037000-173037800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:173037000-173037800	Active TSS	Primary T cells from cord blood	blood
9	chr2:173037000-173037800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:173037000-173037800	Active TSS	Brain Anterior Caudate	brain
11	chr2:173037000-173037800	Flanking Active TSS	Colonic Mucosa	Colon
12	chr2:173037000-173037800	Bivalent Enhancer	Fetal Brain Male	brain
13	chr2:173037000-173037800	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr2:173037000-173037800	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr2:173037000-173037800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:173037000-173037800	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr2:173037000-173037800	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:173037000-173037800	Active TSS	Stomach Mucosa	stomach
19	chr2:173037000-173037800	Active TSS	A549	lung
20	chr2:173037000-173037800	Active TSS	HSMM	muscle
21	chr2:173037000-173038000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:173037000-173038000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:173037000-173038000	Active TSS	Fetal Intestine Large	intestine
24	chr2:173037000-173038400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr2:173037200-173037600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr2:173037200-173037600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:173037200-173037600	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr2:173037200-173037600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:173037200-173037600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr2:173037200-173037800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:173037200-173037800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:173037200-173037800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:173037200-173037800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:173037200-173037800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:173037200-173037800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:173037200-173037800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr2:173037200-173037800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:173037200-173037800	Active TSS	Brain Hippocampus Middle	brain
39	chr2:173037200-173037800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:173037200-173037800	Active TSS	Colon Smooth Muscle	Colon
41	chr2:173037200-173037800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr2:173037200-173037800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
43	chr2:173037200-173037800	Active TSS	Psoas Muscle	Psoas
44	chr2:173037200-173037800	Flanking Active TSS	Right Ventricle	heart
45	chr2:173037200-173037800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr2:173037200-173037800	Active TSS	Hela-S3	cervix
47	chr2:173037200-173037800	Bivalent/Poised TSS	HepG2	liver
48	chr2:173037200-173037800	Active TSS	NHDF-Ad	bronchial
49	chr2:173037200-173037800	Active TSS	NHLF	lung
50	chr2:173037200-173038000	Active TSS	HUES48 Cell Line	embryonic stem cell

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