Variant report

Variant	rs7974384
Chromosome Location	chr12:67713281-67713282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67712989..67715089-chr12:67716509..67719238,2	K562	blood:
2	chr12:67707980..67709583-chr12:67712739..67715234,2	K562	blood:
3	chr12:67662013..67664262-chr12:67712984..67714584,2	K562	blood:
4	chr12:67712594..67714797-chr12:132194188..132196961,2	MCF-7	breast:
5	chr12:67662013..67664268-chr12:67712332..67714584,2	K562	blood:
6	chr12:67664539..67666217-chr12:67712484..67714487,2	K562	blood:
7	chr12:67708442..67711026-chr12:67711731..67713764,2	MCF-7	breast:
8	chr12:67712478..67714489-chr12:67715652..67718009,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYRK2-3	chr12:67711527-67713730	ENSG00000247008
2	lnc-DYRK2-3	chr12:67711527-67713732	NONHSAT029248

No data

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction
ENSG00000061936	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1680	1.00[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28785562	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646172	0.89[AFR][1000 genomes]
rs55718199	0.94[EUR][1000 genomes]
rs56009409	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56256810	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57682356	0.88[EUR][1000 genomes]
rs58181317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398438	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58559744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58577936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982313	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59402354	0.82[EUR][1000 genomes]
rs59826349	0.94[EUR][1000 genomes]
rs59842954	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60104343	0.87[AFR][1000 genomes]
rs61237339	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61371870	0.88[EUR][1000 genomes]
rs61539332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581748	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134160	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7301023	0.94[EUR][1000 genomes]
rs7308079	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7308322	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313387	0.88[EUR][1000 genomes]
rs73318892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320730	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324577	0.88[EUR][1000 genomes]
rs74098702	0.94[EUR][1000 genomes]
rs74100307	0.82[EUR][1000 genomes]
rs74100308	0.94[EUR][1000 genomes]
rs74100320	0.94[EUR][1000 genomes]
rs74100321	0.94[EUR][1000 genomes]
rs74100325	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74100337	0.94[EUR][1000 genomes]
rs7953592	0.88[EUR][1000 genomes]
rs7960660	0.88[EUR][1000 genomes]
rs7968351	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977176	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
2	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:67687800-67715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:67688200-67717000	Strong transcription	NH-A	brain
8	chr12:67688400-67716000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:67691000-67716000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:67698600-67714000	Strong transcription	Fetal Thymus	thymus
11	chr12:67700000-67715400	Weak transcription	Lung	lung
12	chr12:67700000-67716200	Weak transcription	Fetal Stomach	stomach
13	chr12:67700200-67717600	Weak transcription	Gastric	stomach
14	chr12:67700600-67716000	Weak transcription	Aorta	Aorta
15	chr12:67700600-67717400	Weak transcription	Psoas Muscle	Psoas
16	chr12:67702800-67714600	Weak transcription	Small Intestine	intestine
17	chr12:67706200-67716400	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:67706600-67714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:67706600-67716200	Weak transcription	Fetal Heart	heart
20	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:67706800-67713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:67706800-67714400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:67706800-67714600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:67706800-67714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:67706800-67716600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:67707400-67714400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:67707800-67714200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:67708000-67714600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:67708200-67714400	Weak transcription	K562	blood
30	chr12:67708200-67714600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:67708200-67715000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:67708600-67714200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:67708600-67714200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:67708600-67716400	Weak transcription	NHDF-Ad	bronchial
35	chr12:67708800-67714000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:67708800-67714200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:67708800-67714400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:67708800-67714800	Weak transcription	Adipose Nuclei	Adipose
39	chr12:67708800-67715000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:67708800-67717200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:67708800-67717800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:67709000-67714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:67709000-67715800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:67709800-67713400	Strong transcription	Dnd41	blood
45	chr12:67709800-67716600	Strong transcription	HSMM	muscle
46	chr12:67709800-67716800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:67710000-67716200	Strong transcription	Osteobl	bone
48	chr12:67710000-67717400	Strong transcription	A549	lung
49	chr12:67710200-67713400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:67710200-67713600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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