Variant report

Variant	rs2033370
Chromosome Location	chr8:10621801-10621802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10620237..10621942-chr8:10624836..10626716,2	K562	blood:
2	chr8:10615706..10617702-chr8:10620374..10622044,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11987158	0.90[AFR][1000 genomes]
rs17152279	0.95[AFR][1000 genomes]
rs17152296	1.00[AFR][1000 genomes]
rs17152315	1.00[AFR][1000 genomes]
rs17152322	0.95[AFR][1000 genomes]
rs17152339	0.91[AFR][1000 genomes]
rs17152342	0.87[AFR][1000 genomes]
rs17152345	0.91[AFR][1000 genomes]
rs17152349	0.95[AFR][1000 genomes]
rs17152353	0.95[AFR][1000 genomes]
rs17152370	0.95[AFR][1000 genomes]
rs2116091	0.87[AFR][1000 genomes]
rs2409670	1.00[AFR][1000 genomes]
rs7012388	0.86[AFR][1000 genomes]
rs733397	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
20	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1026230	chr8:10618928-10652924	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv539472	chr8:10618928-10652924	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10622200	Weak transcription	Primary B cells from cord blood	blood
2	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:10611200-10624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:10613200-10622600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:10614400-10634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:10614800-10622000	Weak transcription	Hela-S3	cervix
7	chr8:10618000-10622000	Weak transcription	Fetal Thymus	thymus
8	chr8:10618000-10634400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:10618600-10622400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:10618600-10628600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:10618600-10634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:10618800-10622000	Weak transcription	Brain Anterior Caudate	brain
13	chr8:10618800-10622400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:10618800-10623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10618800-10634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:10618800-10634400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:10618800-10636400	Weak transcription	Psoas Muscle	Psoas
18	chr8:10618800-10646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
20	chr8:10619000-10622000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:10619000-10624000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:10619000-10626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:10619000-10636400	Weak transcription	HSMM	muscle
24	chr8:10619200-10622000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:10619200-10622400	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:10619200-10622600	Weak transcription	Placenta	Placenta
27	chr8:10619200-10628200	Weak transcription	K562	blood
28	chr8:10619200-10634200	Weak transcription	Ovary	ovary
29	chr8:10619200-10634400	Weak transcription	HSMMtube	muscle
30	chr8:10619200-10635800	Weak transcription	Brain Angular Gyrus	brain
31	chr8:10619200-10644800	Weak transcription	Small Intestine	intestine
32	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:10619800-10629000	Weak transcription	GM12878-XiMat	blood
35	chr8:10620000-10622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:10620000-10625000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:10620000-10629800	Strong transcription	Primary T cells from cord blood	blood
38	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:10620200-10622000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:10620200-10623800	Strong transcription	Fetal Stomach	stomach
41	chr8:10620200-10645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:10620400-10622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:10620400-10634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:10620600-10622400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:10620600-10630800	Weak transcription	HUVEC	blood vessel
46	chr8:10620800-10623600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:10620800-10623800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:10621000-10622000	Enhancers	HMEC	breast
49	chr8:10621000-10623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:10621200-10622000	Genic enhancers	Brain Germinal Matrix	brain

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