Variant report

Variant	rs12136773
Chromosome Location	chr1:153235048-153235049
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	chr1:153234471..153235981-chr1:153239092..153241290,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494298	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11205250	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11205251	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205252	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1143390	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11585095	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11586275	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1329095	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1329096	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2094638	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4559442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs873233	0.87[ASN][1000 genomes]
rs873234	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv1003014	chr1:153209833-153263691	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv535172	chr1:153209833-153263691	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv998032	chr1:153210770-153264131	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3397000	chr1:153232553-153235701	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3492670	chr1:153232803-153235301	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3492671	chr1:153232803-153235301	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153234200-153235400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr1:153234200-153235600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
3	chr1:153234400-153235200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
4	chr1:153234400-153235200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
5	chr1:153234400-153235200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr1:153234600-153235200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
7	chr1:153234600-153235200	Flanking Active TSS	Ovary	ovary
8	chr1:153234600-153235200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr1:153234600-153235400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:153234600-153235400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr1:153234600-153235600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:153234600-153235600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr1:153234600-153235800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:153234600-153235800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr1:153234600-153236000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr1:153234600-153236000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr1:153234600-153236200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr1:153234800-153235200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:153234800-153235200	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr1:153234800-153235200	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr1:153234800-153235200	Bivalent Enhancer	Brain Hippocampus Middle	brain
22	chr1:153234800-153235200	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr1:153234800-153235400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr1:153234800-153236000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:153234800-153236000	Flanking Active TSS	GM12878-XiMat	blood
26	chr1:153234800-153236200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:153235000-153235200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:153235000-153235200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:153235000-153235200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr1:153235000-153235200	Bivalent/Poised TSS	NHEK	skin
31	chr1:153235000-153235600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr1:153235000-153235800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:153235000-153236000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr1:153235000-153236000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:153235000-153236200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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