Variant report

Variant	rs13395084
Chromosome Location	chr2:172268839-172268840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172268552..172271500-chr2:172290361..172292599,3	K562	blood:
2	chr2:172267543..172269824-chr2:172270765..172273272,4	K562	blood:
3	chr2:172267095..172269091-chr2:172287123..172288853,2	K562	blood:
4	chr2:172268552..172270957-chr2:172288893..172292599,4	K562	blood:
5	chr2:172267840..172270296-chr2:172270765..172273449,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10171164	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10177689	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10186304	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198915	0.86[AMR][1000 genomes]
rs10202883	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210332	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13386613	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388963	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396824	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13402901	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13414723	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608023	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663293	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4566333	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629676	0.80[AFR][1000 genomes]
rs58367130	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58808521	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59235233	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59318451	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59449823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59599047	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60523677	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62181354	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73976149	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976150	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976158	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73976177	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7580497	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973419	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973709	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172258600-172272400	Weak transcription	A549	lung
5	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:172260000-172271000	Weak transcription	K562	blood
7	chr2:172260200-172272200	Weak transcription	HepG2	liver
8	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:172264800-172272400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:172265000-172272200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:172266000-172269800	Enhancers	NHDF-Ad	bronchial
12	chr2:172266400-172269000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:172266400-172269200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:172266400-172269400	Enhancers	HUVEC	blood vessel
15	chr2:172266400-172269600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:172266400-172269600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:172266400-172270000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:172266400-172271200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:172266400-172271600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:172266400-172272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:172266400-172272200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:172266400-172272400	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:172266400-172272400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:172266400-172277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:172266400-172280400	Weak transcription	Esophagus	oesophagus
26	chr2:172266400-172280400	Weak transcription	Left Ventricle	heart
27	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
28	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
29	chr2:172266600-172269200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:172266600-172269200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:172266800-172269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:172266800-172272200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:172266800-172272200	Weak transcription	Fetal Stomach	stomach
34	chr2:172267000-172269000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:172267200-172269200	Enhancers	HMEC	breast
36	chr2:172267200-172269200	Enhancers	NHEK	skin
37	chr2:172267200-172269800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:172267400-172269400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:172267400-172272200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:172267400-172272400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:172267400-172272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:172267400-172272400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:172267600-172269600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:172267600-172272200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:172267800-172269200	Enhancers	NHLF	lung
46	chr2:172267800-172272400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:172268000-172269600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:172268000-172269800	Enhancers	Osteobl	bone
49	chr2:172268000-172272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:172268000-172272400	Weak transcription	Fetal Kidney	kidney

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