Variant report

Variant	rs559220401
Chromosome Location	chr12:40007242-40007243
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	chr12:40005732..40008128-chr12:40008934..40010953,2	K562	blood:
2	chr12:40006374..40007995-chr12:40011197..40013165,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription 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	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
4	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
5	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription 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	2 gene(s)	inside rSNPs	diseases
10	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats 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	2 gene(s)	inside rSNPs	diseases
11	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv899020	chr12:39985206-40040331	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv899021	chr12:39989172-40053423	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2619796	chr12:40005886-40007472	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3376695	chr12:40006502-40007258	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2007616	chr12:40006713-40007415	Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3485908	chr12:40006772-40007272	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3512412	chr12:40006795-40007276	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3512415	chr12:40006801-40007327	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3512413	chr12:40006804-40007306	Weak transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3512414	chr12:40006823-40007253	Genic enhancers Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3485875	chr12:40006828-40007288	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3485886	chr12:40006837-40007251	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3485919	chr12:40006844-40007244	Genic enhancers Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39963800-40010200	Weak transcription	Left Ventricle	heart
2	chr12:39966800-40009400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:39980200-40009200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:39996400-40007800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:39996800-40009400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:39999600-40009800	Weak transcription	Brain Anterior Caudate	brain
7	chr12:40000200-40009400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:40000200-40010200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:40001200-40010000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:40002000-40009800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:40004400-40009200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:40004600-40007400	Weak transcription	Fetal Brain Female	brain
13	chr12:40005000-40012200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40005600-40007800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:40005600-40008600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:40005800-40007800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr12:40006000-40007800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:40006000-40007800	Weak transcription	Fetal Brain Male	brain
19	chr12:40006000-40008200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:40006600-40007400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:40006600-40007400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:40006800-40007400	Enhancers	Adipose Nuclei	Adipose
23	chr12:40006800-40007600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:40006800-40007800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:40006800-40009400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:40006800-40015000	Active TSS	GM12878-XiMat	blood
27	chr12:40007200-40007400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:40007200-40008000	Weak transcription	Rectal Smooth Muscle	rectum

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