Variant report

Variant	rs4817234
Chromosome Location	chr21:15899085-15899086
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	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
2	chr21:15898174..15900938-chr21:15917034..15919951,2	K562	blood:

Variant related genes	Relation type
ENSG00000155307	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2064022	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2223091	0.90[JPT][hapmap]
rs2822749	0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs4817235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4817236	0.85[JPT][hapmap]
rs6516877	0.90[JPT][hapmap]
rs7280738	0.90[JPT][hapmap]
rs7281104	0.90[JPT][hapmap]
rs9979080	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9982259	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv913405	chr21:15875108-15899085	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv913406	chr21:15875108-15905580	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1796464	chr21:15884475-15900198	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1800015	chr21:15884475-15906590	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv913407	chr21:15885274-15899085	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv913408	chr21:15885274-15905580	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv913409	chr21:15885274-15908642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv459097	chr21:15886919-15902978	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv587045	chr21:15886919-15902978	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv459098	chr21:15886919-15906590	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv587046	chr21:15886919-15906590	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv913410	chr21:15889553-15906590	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1058533	chr21:15896056-15948474	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv544377	chr21:15896056-15948474	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv587047	chr21:15896422-15906590	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4817234	SAMSN1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
2	chr21:15893000-15899400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr21:15894200-15899200	Weak transcription	Thymus	Thymus
4	chr21:15896200-15899200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:15896200-15899200	Enhancers	Dnd41	blood
6	chr21:15896200-15899600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr21:15896200-15904200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:15896200-15906200	Weak transcription	Fetal Thymus	thymus
9	chr21:15897000-15899200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr21:15897400-15899200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr21:15897400-15899600	Enhancers	Primary T cells from cord blood	blood
12	chr21:15897400-15901600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr21:15897400-15902200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr21:15897800-15899200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:15897800-15899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:15898200-15899600	Enhancers	Primary B cells from peripheral blood	blood
17	chr21:15898400-15899800	Transcr. at gene 5' and 3'	K562	blood
18	chr21:15898400-15900000	Enhancers	Primary B cells from cord blood	blood
19	chr21:15898600-15899200	Enhancers	Fetal Heart	heart
20	chr21:15898600-15900000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:15898600-15900000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr21:15898600-15900000	Flanking Active TSS	GM12878-XiMat	blood
23	chr21:15898600-15900200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr21:15898600-15901000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:15898600-15901000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:15898800-15900000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr21:15898800-15900200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr21:15899000-15899200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:15899000-15899400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:15899000-15899800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr21:15899000-15900000	Active TSS	Primary T cells fromperipheralblood	blood
32	chr21:15899000-15900000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:15899000-15900000	Active TSS	Duodenum Mucosa	Duodenum
34	chr21:15899000-15900000	Active TSS	Rectal Mucosa Donor 29	rectum

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