Variant report

Variant	rs62095544
Chromosome Location	chr18:29462621-29462622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29449762..29451943-chr18:29462101..29464168,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF125-6	chr18:29462583-29462865	NONHSAT058840

Variant related genes	Relation type
ENSG00000153339	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11081717	0.87[ASN][1000 genomes]
rs11081718	0.89[ASN][1000 genomes]
rs11081719	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081720	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081722	0.94[ASN][1000 genomes]
rs11081723	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081724	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11081729	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11659244	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11660557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11661525	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11662697	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665424	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11877256	0.92[ASN][1000 genomes]
rs12604691	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12605636	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12606354	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606379	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606882	0.93[ASN][1000 genomes]
rs12606962	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12607786	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12608051	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17741796	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17741967	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17742014	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17742105	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17804129	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291239	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28654480	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34180462	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35275842	0.88[ASN][1000 genomes]
rs3737373	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3737374	0.91[ASN][1000 genomes]
rs3810001	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3925536	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4539674	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4545895	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55706254	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56303347	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58098304	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093860	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093864	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62093866	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62093867	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62093868	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62093869	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093873	0.93[ASN][1000 genomes]
rs62093900	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62093901	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093903	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095507	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095508	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62095509	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62095510	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095543	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095545	0.90[ASN][1000 genomes]
rs62095546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095547	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095548	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506947	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7226615	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7226713	0.94[ASN][1000 genomes]
rs7228817	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7233234	0.94[ASN][1000 genomes]
rs7234341	0.91[ASN][1000 genomes]
rs7234798	0.94[ASN][1000 genomes]
rs7237879	0.93[ASN][1000 genomes]
rs7239629	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72930222	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9635917	0.93[ASN][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	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:29409800-29466600	Weak transcription	Gastric	stomach
5	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
10	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
14	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
15	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
16	chr18:29450000-29464800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr18:29450200-29471800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr18:29451800-29465400	Strong transcription	Dnd41	blood
19	chr18:29452000-29472000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr18:29455800-29464200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:29455800-29465200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:29456000-29479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr18:29456000-29480000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:29456200-29466600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:29457000-29465200	Weak transcription	HSMMtube	muscle
26	chr18:29457000-29480400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
28	chr18:29457200-29463200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:29457200-29463400	Weak transcription	NH-A	brain
30	chr18:29457200-29463800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:29457200-29465200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:29457200-29468600	Weak transcription	HMEC	breast
33	chr18:29457200-29479600	Weak transcription	Colonic Mucosa	Colon
34	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr18:29457400-29479800	Weak transcription	Pancreas	Pancrea
36	chr18:29457400-29484800	Weak transcription	NHEK	skin
37	chr18:29457600-29464000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:29457600-29466600	Weak transcription	Spleen	Spleen
39	chr18:29457600-29479800	Weak transcription	Right Ventricle	heart
40	chr18:29458200-29464000	Weak transcription	Fetal Stomach	stomach
41	chr18:29458200-29466600	Weak transcription	Thymus	Thymus
42	chr18:29458200-29479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:29458200-29479600	Weak transcription	Aorta	Aorta
44	chr18:29458200-29479600	Weak transcription	Esophagus	oesophagus
45	chr18:29458200-29482600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr18:29458600-29466600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr18:29458600-29485200	Weak transcription	Brain Substantia Nigra	brain
48	chr18:29458800-29469000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr18:29458800-29471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:29459000-29481400	Weak transcription	NHLF	lung

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