Variant report

Variant	rs12067445
Chromosome Location	chr1:174371206-174371207
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	chr1:174365587..174367907-chr1:174369349..174371264,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10489257	1.00[EUR][1000 genomes]
rs10489262	0.90[AFR][1000 genomes]
rs10912742	1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs10912748	1.00[EUR][1000 genomes]
rs10912760	1.00[EUR][1000 genomes]
rs10912767	1.00[EUR][1000 genomes]
rs10912768	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912783	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912784	1.00[EUR][1000 genomes]
rs10912785	1.00[EUR][1000 genomes]
rs10912788	1.00[EUR][1000 genomes]
rs10912790	1.00[EUR][1000 genomes]
rs10912792	0.92[AFR][1000 genomes]
rs10912794	0.90[AFR][1000 genomes]
rs12057220	1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059636	1.00[EUR][1000 genomes]
rs12059902	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064144	0.83[AFR][1000 genomes]
rs12066028	1.00[EUR][1000 genomes]
rs12066736	0.90[AFR][1000 genomes]
rs12067772	0.90[AFR][1000 genomes]
rs12069450	1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12070505	0.89[AFR][1000 genomes]
rs12071243	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12075085	1.00[EUR][1000 genomes]
rs12075213	0.90[AFR][1000 genomes]
rs12075263	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075962	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076425	1.00[EUR][1000 genomes]
rs12077462	1.00[EUR][1000 genomes]
rs12078222	1.00[EUR][1000 genomes]
rs12079274	1.00[EUR][1000 genomes]
rs12081444	1.00[EUR][1000 genomes]
rs12081595	1.00[EUR][1000 genomes]
rs12082017	1.00[EUR][1000 genomes]
rs12083355	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084911	1.00[EUR][1000 genomes]
rs12090908	1.00[EUR][1000 genomes]
rs12092291	1.00[EUR][1000 genomes]
rs12092811	0.83[AFR][1000 genomes]
rs12094140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094364	1.00[EUR][1000 genomes]
rs12096718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12354281	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1467397	1.00[EUR][1000 genomes]
rs16846878	1.00[EUR][1000 genomes]
rs6673147	1.00[EUR][1000 genomes]
rs6682041	1.00[EUR][1000 genomes]
rs7525430	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv872555	chr1:174343705-174565720	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1003113	chr1:174367687-174499155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv535209	chr1:174367687-174499155	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174325800-174382800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:174341800-174372200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:174353000-174382600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:174353600-174372000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:174357800-174375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:174360000-174383000	Weak transcription	Right Atrium	heart
7	chr1:174361400-174375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:174361600-174382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:174363000-174375800	Weak transcription	NHDF-Ad	bronchial
10	chr1:174363200-174374000	Weak transcription	Esophagus	oesophagus
11	chr1:174363200-174382800	Weak transcription	Left Ventricle	heart
12	chr1:174363400-174372800	Weak transcription	Lung	lung
13	chr1:174363400-174375800	Weak transcription	Gastric	stomach
14	chr1:174364400-174374000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:174365600-174374600	Weak transcription	Liver	Liver
16	chr1:174367000-174382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:174367400-174373000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:174367600-174371800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:174367600-174371800	Weak transcription	Fetal Stomach	stomach
20	chr1:174367600-174372000	Weak transcription	Spleen	Spleen
21	chr1:174367600-174375400	Weak transcription	NHEK	skin
22	chr1:174367600-174375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:174367600-174377000	Weak transcription	Fetal Intestine Small	intestine
24	chr1:174368000-174374200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:174368600-174376000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:174369400-174383000	Weak transcription	GM12878-XiMat	blood
27	chr1:174369600-174372200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:174371200-174373000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:174371200-174377200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:174371200-174379000	Weak transcription	Primary B cells from cord blood	blood

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