Variant report

Variant	rs7972009
Chromosome Location	chr12:827757-827758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:825603..828799-chr12:857363..861650,3	K562	blood:
2	chr12:827548..829684-chr12:835280..837166,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10774446	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849532	0.94[ASN][1000 genomes]
rs11064447	0.95[ASN][1000 genomes]
rs11064449	0.91[ASN][1000 genomes]
rs11064450	0.92[ASN][1000 genomes]
rs11064451	0.84[ASN][1000 genomes]
rs12580159	0.95[ASN][1000 genomes]
rs1563619	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2369400	0.95[ASN][1000 genomes]
rs2369401	0.95[EUR][1000 genomes]
rs61916718	0.95[ASN][1000 genomes]
rs61916719	0.95[ASN][1000 genomes]
rs61916720	0.96[ASN][1000 genomes]
rs61916721	0.95[ASN][1000 genomes]
rs61916722	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	80 gene(s)	inside rSNPs	diseases
4	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
9	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv898567	chr12:547683-863517	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	nsv491937	chr12:574727-835424	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv1049625	chr12:595867-840090	Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv541331	chr12:595867-840090	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv556887	chr12:632240-867504	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
19	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
21	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	esv2757485	chr12:786238-964551	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
26	nsv1043718	chr12:786563-855811	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv541339	chr12:786563-855811	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1046707	chr12:792110-910520	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:813200-828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:814200-828000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:821800-828000	Weak transcription	Thymus	Thymus
4	chr12:822000-828000	Weak transcription	HSMM	muscle
5	chr12:822000-835600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:823000-828000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:823000-828000	Weak transcription	Brain Anterior Caudate	brain
8	chr12:823000-828000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:823000-828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:823000-828200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:823200-828000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:823200-828000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:823200-828000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:823200-828000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:823200-828000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:823200-828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:823200-828000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:823200-828200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:823200-828200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:823200-828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:823200-828400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:823200-831400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:823400-828000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:823400-828000	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:823600-828200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:824000-832000	Enhancers	Fetal Muscle Leg	muscle
27	chr12:825600-828200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:825800-828200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:825800-830400	Weak transcription	Right Ventricle	heart
30	chr12:826000-828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:826000-828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:826000-828200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:826000-830600	Enhancers	Fetal Heart	heart
34	chr12:826200-827800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:826200-828000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:826200-828000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:826200-828200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:826200-828200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:826200-828200	Weak transcription	HSMMtube	muscle
40	chr12:826200-828400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:826400-828400	Enhancers	Left Ventricle	heart
42	chr12:827200-828000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:827200-828000	Enhancers	GM12878-XiMat	blood
44	chr12:827200-829800	Enhancers	Fetal Thymus	thymus
45	chr12:827400-828200	Enhancers	Primary T cells from cord blood	blood
46	chr12:827400-828200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:827400-828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:827400-828200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:827400-829600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:827400-829600	Enhancers	Primary T helper cells fromperipheralblood	blood

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