Variant report

Variant	rs7976974
Chromosome Location	chr12:22313416-22313417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1024851	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770895	0.89[ASN][1000 genomes]
rs10841963	0.86[ASN][1000 genomes]
rs11046324	0.84[ASN][1000 genomes]
rs11046326	0.90[ASN][1000 genomes]
rs11046327	0.85[ASN][1000 genomes]
rs6487289	0.83[ASN][1000 genomes]
rs7301993	0.83[ASN][1000 genomes]
rs759583	0.89[ASN][1000 genomes]
rs7963066	0.81[ASN][1000 genomes]
rs7963799	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964713	0.84[ASN][1000 genomes]
rs8181690	0.84[ASN][1000 genomes]
rs918129	0.91[ASN][1000 genomes]
rs918130	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22311800-22316600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:22312000-22314800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:22312000-22314800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:22312000-22315000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:22312200-22314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:22312200-22314600	Enhancers	Fetal Thymus	thymus
7	chr12:22312200-22315000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:22312400-22314600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:22312600-22314800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:22313000-22313600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:22313000-22313800	Enhancers	Primary B cells from cord blood	blood
12	chr12:22313000-22314200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:22313000-22314800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:22313000-22314800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:22313000-22314800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:22313000-22315000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:22313200-22313600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:22313400-22313800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr12:22313400-22314000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:22313400-22314000	Enhancers	Thymus	Thymus
21	chr12:22313400-22314800	Enhancers	Primary hematopoietic stem cells	blood

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