Variant report

Variant	rs12030322
Chromosome Location	chr1:67306616-67306617
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	chr1:67305339..67308328-chr1:67451037..67452745,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2312592	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs269407	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2991356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569101	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6698076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546443	chr1:67268642-67352960	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871738	chr1:67268642-67375206	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv871259	chr1:67275027-67375206	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv871177	chr1:67279194-67320816	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67276800-67336000	Weak transcription	Aorta	Aorta
2	chr1:67280000-67318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:67281600-67335800	Weak transcription	Ovary	ovary
4	chr1:67297800-67307600	Weak transcription	Psoas Muscle	Psoas
5	chr1:67306000-67307200	Enhancers	Primary T cells from cord blood	blood
6	chr1:67306000-67307200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:67306000-67307400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:67306000-67307600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:67306000-67307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:67306000-67307600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:67306000-67307800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:67306000-67308000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:67306200-67307000	Enhancers	Thymus	Thymus
14	chr1:67306200-67307600	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:67306200-67307600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:67306200-67307600	Enhancers	Dnd41	blood
17	chr1:67306400-67307400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:67306600-67306800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:67306600-67307000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:67306600-67307000	Enhancers	K562	blood
21	chr1:67306600-67307400	Enhancers	Primary B cells from cord blood	blood
22	chr1:67306600-67316800	Weak transcription	Left Ventricle	heart

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