Variant report

Variant	rs9992175
Chromosome Location	chr4:153012499-153012500
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	chr4:153007404..153009419-chr4:153012394..153015210,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12649261	0.85[ASN][1000 genomes]
rs13113320	0.83[ASN][1000 genomes]
rs7663766	0.85[ASN][1000 genomes]
rs7666016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9992175	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153003200-153013800	Enhancers	Fetal Thymus	thymus
2	chr4:153003600-153014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:153008200-153015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:153009600-153012600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr4:153009600-153021600	Enhancers	Thymus	Thymus
6	chr4:153010200-153013000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr4:153010200-153020200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:153010200-153021000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:153010200-153021200	Enhancers	Primary T cells from cord blood	blood
10	chr4:153010400-153012800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:153010400-153020000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:153010600-153012600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:153010600-153015600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:153010800-153014600	Weak transcription	Spleen	Spleen
15	chr4:153011200-153013400	Weak transcription	Fetal Brain Female	brain
16	chr4:153011400-153013600	Enhancers	Fetal Heart	heart
17	chr4:153011400-153015800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:153011800-153012600	Enhancers	Fetal Brain Male	brain
19	chr4:153011800-153012800	Enhancers	Stomach Smooth Muscle	stomach
20	chr4:153012000-153012600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:153012000-153012800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr4:153012400-153015200	Weak transcription	Dnd41	blood
23	chr4:153012400-153016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:153012400-153016400	Weak transcription	Osteobl	bone

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