Variant report

Variant	rs6006411
Chromosome Location	chr22:30628210-30628211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30621068..30623643-chr22:30626856..30629592,2	K562	blood:
2	chr22:30622143..30623687-chr22:30628092..30630588,2	K562	blood:
3	chr22:30625735..30629676-chr22:30640222..30642497,4	K562	blood:

Variant related genes	Relation type
ENSG00000268812	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12484880	1.00[YRI][hapmap]
rs2286442	1.00[YRI][hapmap]
rs2299826	1.00[YRI][hapmap]
rs4473498	1.00[YRI][hapmap]
rs5763919	1.00[YRI][hapmap]
rs6006425	1.00[YRI][hapmap]

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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30624400-30628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:30625000-30628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:30625000-30628800	Weak transcription	Osteobl	bone
4	chr22:30625200-30628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:30625200-30628600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30625200-30628600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:30625200-30628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:30625200-30628800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:30625200-30630600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr22:30625200-30631200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:30625200-30637000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:30625400-30628400	Weak transcription	NH-A	brain
13	chr22:30625400-30628600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:30625400-30628600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:30625400-30629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30625400-30629000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:30625400-30630800	Weak transcription	Esophagus	oesophagus
18	chr22:30625400-30630800	Weak transcription	Hela-S3	cervix
19	chr22:30625400-30632200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:30625600-30628600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:30625600-30628800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30625600-30630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:30625600-30630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:30625600-30630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:30625600-30631000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:30625600-30631000	Weak transcription	Lung	lung
27	chr22:30625600-30631000	Weak transcription	Spleen	Spleen
28	chr22:30625800-30628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30625800-30630600	Weak transcription	HMEC	breast
30	chr22:30626200-30631000	Weak transcription	Gastric	stomach
31	chr22:30627000-30629000	Bivalent Enhancer	Placenta	Placenta
32	chr22:30627200-30628400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr22:30627200-30629200	Weak transcription	HSMMtube	muscle
34	chr22:30627400-30629400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr22:30627600-30628600	Weak transcription	A549	lung
36	chr22:30627600-30628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:30628000-30628600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr22:30628200-30628600	Enhancers	Fetal Kidney	kidney
39	chr22:30628200-30629200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:30628200-30629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:30628200-30629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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