Variant report

Variant	rs4441982
Chromosome Location	chr6:121595117-121595118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10499102	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10499103	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10499107	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10499108	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10499110	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17052877	0.90[EUR][1000 genomes]
rs17083156	0.90[EUR][1000 genomes]
rs17083168	0.90[EUR][1000 genomes]
rs17083211	0.90[EUR][1000 genomes]
rs17083268	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17083302	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17083356	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083358	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083360	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083375	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083385	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083389	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083397	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083405	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083417	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083420	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083432	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083435	0.84[ASN][1000 genomes]
rs2389416	0.81[EUR][1000 genomes]
rs35710769	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3923664	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144169	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245508	0.86[ASN][1000 genomes]
rs4469335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4487619	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580906	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4585597	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945680	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4945683	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946536	0.90[EUR][1000 genomes]
rs4946544	0.90[EUR][1000 genomes]
rs4946549	0.90[EUR][1000 genomes]
rs4946552	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4946553	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4946554	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4946555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4946556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4946557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4946558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4946560	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946561	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946564	0.85[ASN][1000 genomes]
rs4946566	0.82[ASN][1000 genomes]
rs4946567	0.84[ASN][1000 genomes]
rs56899462	0.91[AFR][1000 genomes]
rs59863462	0.91[AFR][1000 genomes]
rs59945135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60820338	0.91[AFR][1000 genomes]
rs61550917	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61582983	0.83[AFR][1000 genomes]
rs6930191	0.85[ASN][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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121575000-121606400	Weak transcription	NH-A	brain
2	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
3	chr6:121585400-121614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:121585600-121625000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:121585800-121599000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:121586600-121613000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:121588200-121616800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:121588600-121612000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:121588600-121617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:121588800-121604000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
14	chr6:121589000-121596800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:121589000-121602600	Weak transcription	Liver	Liver
16	chr6:121589000-121632800	Weak transcription	Fetal Lung	lung
17	chr6:121589000-121635200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:121589000-121637600	Weak transcription	Ovary	ovary
19	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:121589200-121601400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:121589200-121605200	Weak transcription	Dnd41	blood
22	chr6:121589200-121622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:121589200-121630000	Weak transcription	Fetal Intestine Large	intestine
24	chr6:121589200-121631800	Weak transcription	Fetal Intestine Small	intestine
25	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
26	chr6:121589400-121612400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:121589600-121615600	Weak transcription	Fetal Brain Female	brain
28	chr6:121589800-121596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:121590200-121630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:121590600-121596200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:121592400-121598600	Weak transcription	Small Intestine	intestine
32	chr6:121593800-121605800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:121594000-121606200	Weak transcription	NHLF	lung
34	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:121594600-121622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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