Variant report

Variant	rs34268261
Chromosome Location	chr21:47831845-47831846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47824425..47826063-chr21:47831096..47833613,2	K562	blood:
2	chr21:47830908..47832607-chr21:47838818..47842295,3	K562	blood:
3	chr21:47829908..47831983-chr21:47862794..47864924,2	K562	blood:
4	chr21:47830638..47832458-chr21:47836408..47838043,2	K562	blood:

Variant related genes	Relation type
ENSG00000225043	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12483577	1.00[ASN][1000 genomes]
rs13047784	1.00[ASN][1000 genomes]
rs16979054	1.00[ASN][1000 genomes]
rs17176534	1.00[ASN][1000 genomes]
rs17176737	1.00[ASN][1000 genomes]
rs17176779	1.00[ASN][1000 genomes]
rs17176793	1.00[ASN][1000 genomes]
rs17176800	1.00[ASN][1000 genomes]
rs17176905	1.00[ASN][1000 genomes]
rs17176926	1.00[ASN][1000 genomes]
rs17176974	1.00[ASN][1000 genomes]
rs17176988	1.00[ASN][1000 genomes]
rs17177030	1.00[ASN][1000 genomes]
rs17182739	1.00[ASN][1000 genomes]
rs17182746	1.00[ASN][1000 genomes]
rs17183137	1.00[ASN][1000 genomes]
rs17183151	1.00[ASN][1000 genomes]
rs17183220	1.00[ASN][1000 genomes]
rs17183368	1.00[ASN][1000 genomes]
rs17183473	1.00[ASN][1000 genomes]
rs17297798	1.00[ASN][1000 genomes]
rs17297961	1.00[ASN][1000 genomes]
rs17298556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300762	1.00[ASN][1000 genomes]
rs17300965	1.00[ASN][1000 genomes]
rs17302525	1.00[ASN][1000 genomes]
rs17369792	1.00[ASN][1000 genomes]
rs17372047	1.00[ASN][1000 genomes]
rs2105495	1.00[ASN][1000 genomes]
rs2212749	1.00[ASN][1000 genomes]
rs2839169	1.00[ASN][1000 genomes]
rs34500739	1.00[ASN][1000 genomes]
rs56693387	1.00[ASN][1000 genomes]
rs59308388	1.00[ASN][1000 genomes]
rs59613587	1.00[ASN][1000 genomes]
rs60412264	1.00[ASN][1000 genomes]
rs60751239	1.00[ASN][1000 genomes]
rs61181882	1.00[ASN][1000 genomes]
rs61448213	1.00[ASN][1000 genomes]
rs61735811	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735814	1.00[ASN][1000 genomes]
rs61735815	1.00[ASN][1000 genomes]
rs61735817	1.00[ASN][1000 genomes]
rs61735818	1.00[ASN][1000 genomes]
rs61736728	1.00[ASN][1000 genomes]
rs7278379	1.00[ASN][1000 genomes]
rs73909524	1.00[ASN][1000 genomes]
rs743346	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
12	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
13	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
14	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
15	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
16	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
17	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
18	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
19	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
20	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
21	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
22	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
23	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
24	nsv914140	chr21:47712185-47866227	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
25	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
26	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
27	nsv914142	chr21:47772468-47866227	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
28	nsv1062683	chr21:47788763-47851236	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
29	nsv914143	chr21:47792874-47862624	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
30	nsv914144	chr21:47792874-47866227	Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
31	nsv587981	chr21:47800592-47841941	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
32	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
33	nsv914145	chr21:47804438-47866227	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34268261	SPATC1L	cis	Adipose Subcutaneous	GTEx
rs34268261	SPATC1L	cis	Skin Sun Exposed Lower leg	GTEx
rs34268261	SPATC1L	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:47802200-47842600	Strong transcription	Dnd41	blood
4	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
5	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
11	chr21:47814600-47834000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:47817000-47834000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:47818400-47850200	Weak transcription	Small Intestine	intestine
14	chr21:47818600-47842600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:47820400-47851200	Weak transcription	NH-A	brain
16	chr21:47822800-47832800	Weak transcription	HMEC	breast
17	chr21:47822800-47836000	Weak transcription	A549	lung
18	chr21:47822800-47843000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:47823000-47832400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:47823200-47835000	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:47823200-47850200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr21:47823400-47832000	Weak transcription	Brain Substantia Nigra	brain
23	chr21:47823400-47840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:47823800-47835800	Weak transcription	HSMM	muscle
25	chr21:47824600-47835800	Weak transcription	HSMMtube	muscle
26	chr21:47827400-47866600	Strong transcription	Fetal Stomach	stomach
27	chr21:47827600-47842600	Strong transcription	Primary T cells from cord blood	blood
28	chr21:47827800-47842800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:47828000-47832600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:47828000-47833000	Strong transcription	NHEK	skin
31	chr21:47828000-47863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:47828400-47835600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:47828800-47843200	Strong transcription	Fetal Muscle Leg	muscle
35	chr21:47829200-47843000	Strong transcription	Left Ventricle	heart
36	chr21:47829200-47843200	Strong transcription	Thymus	Thymus
37	chr21:47829400-47833000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:47829400-47843200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr21:47829400-47862600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr21:47829600-47832400	Strong transcription	Esophagus	oesophagus
42	chr21:47829600-47833000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr21:47829600-47837000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:47829600-47837200	Strong transcription	Lung	lung
45	chr21:47829600-47842000	Strong transcription	Fetal Thymus	thymus
46	chr21:47829600-47842800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:47829600-47843000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:47829600-47843200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:47829600-47862800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr21:47829600-47864000	Strong transcription	Fetal Intestine Small	intestine

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