Variant report

Variant	rs6681221
Chromosome Location	chr1:10601761-10601762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10601514..10603833-chr1:10611610..10614031,2	K562	blood:
2	chr1:10591577..10594181-chr1:10600029..10602001,2	K562	blood:
3	chr1:10599611..10603439-chr1:10608820..10611916,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10157111	0.86[EUR][1000 genomes]
rs10157119	0.86[EUR][1000 genomes]
rs10746495	0.84[EUR][1000 genomes]
rs10779739	0.86[EUR][1000 genomes]
rs10864461	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864463	0.86[EUR][1000 genomes]
rs10864465	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121584	0.86[EUR][1000 genomes]
rs11121585	0.83[EUR][1000 genomes]
rs11121588	0.84[EUR][1000 genomes]
rs11121589	0.84[EUR][1000 genomes]
rs11121596	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11121597	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033275	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128630	0.86[EUR][1000 genomes]
rs12129678	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403130	0.84[EUR][1000 genomes]
rs17035156	0.83[AFR][1000 genomes]
rs2039175	0.81[EUR][1000 genomes]
rs2039176	0.81[EUR][1000 genomes]
rs2183377	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2480771	0.86[EUR][1000 genomes]
rs2480772	0.86[EUR][1000 genomes]
rs2480773	0.86[EUR][1000 genomes]
rs2480775	0.87[EUR][1000 genomes]
rs2480780	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2480781	0.87[EUR][1000 genomes]
rs2506897	0.89[EUR][1000 genomes]
rs2506898	0.89[EUR][1000 genomes]
rs2506900	0.86[EUR][1000 genomes]
rs2988398	0.87[EUR][1000 genomes]
rs2988399	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612158	0.83[EUR][1000 genomes]
rs4240914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240915	0.86[EUR][1000 genomes]
rs4845936	0.84[EUR][1000 genomes]
rs4846230	0.86[EUR][1000 genomes]
rs4846231	0.86[EUR][1000 genomes]
rs4846232	0.86[EUR][1000 genomes]
rs4846233	0.86[EUR][1000 genomes]
rs58788814	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61192982	0.82[EUR][1000 genomes]
rs61777207	0.85[EUR][1000 genomes]
rs61777208	0.81[EUR][1000 genomes]
rs6658073	0.84[EUR][1000 genomes]
rs6700023	0.86[EUR][1000 genomes]
rs72641424	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72641427	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7512467	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7522072	0.85[AFR][1000 genomes]
rs7536149	0.98[ASN][1000 genomes]
rs7545184	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944191	0.86[EUR][1000 genomes]
rs9660006	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:10584800-10603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:10585200-10603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:10585200-10603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
7	chr1:10590200-10602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:10590200-10605200	Weak transcription	NHDF-Ad	bronchial
9	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
10	chr1:10591400-10609000	Weak transcription	Small Intestine	intestine
11	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:10593000-10603800	Weak transcription	Fetal Brain Female	brain
15	chr1:10593400-10603600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:10594600-10604400	Strong transcription	Fetal Intestine Small	intestine
17	chr1:10595600-10602400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:10595800-10602000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:10595800-10602400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:10595800-10603000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:10596000-10602200	Strong transcription	Primary T cells from cord blood	blood
22	chr1:10596000-10602600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:10596000-10602600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:10596200-10602400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:10596200-10602600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:10596400-10603200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:10596800-10602800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:10597200-10604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:10598000-10602000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:10598000-10602000	Enhancers	Fetal Heart	heart
31	chr1:10598600-10602200	Weak transcription	Primary B cells from cord blood	blood
32	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:10599000-10602600	Strong transcription	NHEK	skin
34	chr1:10599200-10601800	Enhancers	Fetal Lung	lung
35	chr1:10599200-10602000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:10599400-10602000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:10599400-10603200	Strong transcription	GM12878-XiMat	blood
38	chr1:10599600-10601800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:10599600-10602000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:10599600-10602000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:10599800-10602000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:10599800-10608400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:10599800-10610000	Weak transcription	Stomach Mucosa	stomach
44	chr1:10600000-10608200	Weak transcription	Fetal Brain Male	brain
45	chr1:10600000-10615600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:10600000-10615800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:10600200-10601800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:10600200-10614800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:10600200-10615800	Weak transcription	HSMM	muscle

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