Variant report

Variant	rs9462388
Chromosome Location	chr6:38111112-38111113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38110841..38113265-chr6:38114038..38117277,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11759344	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11961284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55749139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55890079	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55933649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57327758	0.98[AFR][1000 genomes]
rs57953063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57965615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58860274	0.82[AFR][1000 genomes]
rs60249007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60774419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60997161	0.85[AFR][1000 genomes]
rs6904932	0.85[AFR][1000 genomes]
rs6917912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6918181	0.87[AFR][1000 genomes]
rs6918445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6918779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6919188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73730849	0.82[AFR][1000 genomes]
rs73730859	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73730865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73730881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73730892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73730893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73730896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73730897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73734310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73734311	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73734320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7747924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7767077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770297	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7773080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9296235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470744	0.82[AFR][1000 genomes]
rs9470745	0.84[AFR][1000 genomes]
rs9470746	1.00[EUR][1000 genomes]
rs9470757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470790	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470795	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470799	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38075200-38118200	Weak transcription	Colonic Mucosa	Colon
2	chr6:38079600-38113800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
4	chr6:38084000-38122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
6	chr6:38087600-38118800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:38091200-38119800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:38091400-38116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:38092800-38112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:38092800-38117000	Weak transcription	Spleen	Spleen
12	chr6:38095200-38122600	Weak transcription	A549	lung
13	chr6:38096000-38116000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:38099600-38117800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:38099800-38119600	Weak transcription	Aorta	Aorta
16	chr6:38100000-38112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:38100200-38111200	Weak transcription	HMEC	breast
18	chr6:38100400-38113600	Weak transcription	NHLF	lung
19	chr6:38100600-38114000	Weak transcription	NH-A	brain
20	chr6:38101200-38113800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:38103000-38127200	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:38103200-38112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:38104000-38118400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:38104400-38111600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:38104600-38112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:38104600-38112200	Weak transcription	Pancreas	Pancrea
27	chr6:38104600-38112800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:38104600-38113800	Weak transcription	Esophagus	oesophagus
29	chr6:38104600-38119600	Weak transcription	Gastric	stomach
30	chr6:38104600-38119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:38104800-38113600	Weak transcription	NHDF-Ad	bronchial
32	chr6:38105600-38112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:38105600-38116200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:38105800-38111800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:38106000-38116200	Weak transcription	Fetal Thymus	thymus
36	chr6:38106600-38113800	Strong transcription	Primary B cells from cord blood	blood
37	chr6:38106800-38112200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:38107000-38112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:38107000-38116200	Weak transcription	Dnd41	blood
40	chr6:38107200-38111200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:38107200-38112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:38107400-38111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:38107400-38112800	Weak transcription	NHEK	skin
44	chr6:38107400-38114600	Strong transcription	Primary T cells from cord blood	blood
45	chr6:38107400-38116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:38107600-38111400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:38107600-38112200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:38107600-38112400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:38108000-38111800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:38108200-38111600	Weak transcription	Duodenum Mucosa	Duodenum

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