Variant report

Variant	rs4995576
Chromosome Location	chr12:31985939-31985940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31744029..31745765-chr12:31984895..31986736,2	K562	blood:

Variant related genes	Relation type
ENSG00000255867	Chromatin interaction
ENSG00000170456	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11611197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259719	0.81[ASN][1000 genomes]
rs17508967	0.85[CHB][hapmap]
rs17568263	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2128611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3928325	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55754220	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55965200	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56311344	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56387862	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6488016	0.81[ASN][1000 genomes]
rs7295379	0.87[ASN][1000 genomes]
rs7298443	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic 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	37 gene(s)	inside rSNPs	diseases
7	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
8	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv663	chr12:31941989-31986608	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1042631	chr12:31982559-32061988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4995576	CAPRIN2	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31983400-31986800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:31984000-31986800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:31984200-31986600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:31984200-31986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:31984200-31987000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:31984200-31990800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:31984400-31986000	Enhancers	Primary B cells from cord blood	blood
8	chr12:31984400-31987000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:31984600-31986800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:31984600-31988400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:31985000-31986000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr12:31985000-31986600	ZNF genes & repeats	Dnd41	blood
13	chr12:31985200-31986000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:31985200-31986200	ZNF genes & repeats	Fetal Thymus	thymus
15	chr12:31985200-31987600	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:31985400-31986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:31985400-31986200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:31985400-31986200	Enhancers	Spleen	Spleen
19	chr12:31985400-31986400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:31985400-31986800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:31985600-31986400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr12:31985600-31986600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:31985600-31986800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:31985600-31988400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr12:31985600-31988400	ZNF genes & repeats	K562	blood
26	chr12:31985600-32000800	Weak transcription	Thymus	Thymus
27	chr12:31985800-31986000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:31985800-31986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:31985800-31986200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:31985800-31986600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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