Variant report

Variant	rs1252420
Chromosome Location	chr12:67684036-67684037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67681823..67684693-chr12:67719727..67722113,2	K562	blood:
2	chr12:67678774..67680822-chr12:67683989..67686617,2	MCF-7	breast:
3	chr12:67682602..67685085-chr12:67687619..67689287,2	K562	blood:
4	chr12:67662696..67664703-chr12:67682661..67684692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1066392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082707	1.00[AFR][1000 genomes]
rs1082712	1.00[AFR][1000 genomes]
rs1082719	1.00[AFR][1000 genomes]
rs1143757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1186260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252411	1.00[AMR][1000 genomes]
rs1252433	1.00[AFR][1000 genomes]
rs1392588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1392589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1658782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1697249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873224	1.00[AMR][1000 genomes]
rs710621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs74099424	1.00[AMR][1000 genomes]
rs775311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
3	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
5	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
9	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:67668400-67688200	Weak transcription	HUVEC	blood vessel
11	chr12:67670000-67684200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:67670000-67688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:67670600-67684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:67670800-67688400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:67671000-67688800	Weak transcription	NHEK	skin
19	chr12:67671000-67689400	Weak transcription	NHLF	lung
20	chr12:67671200-67688200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:67671600-67691800	Weak transcription	Fetal Brain Male	brain
23	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
24	chr12:67672400-67684600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
26	chr12:67672600-67684600	Weak transcription	Gastric	stomach
27	chr12:67672600-67684600	Weak transcription	Right Atrium	heart
28	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
29	chr12:67674200-67684600	Weak transcription	Brain Anterior Caudate	brain
30	chr12:67674200-67688800	Weak transcription	Brain Angular Gyrus	brain
31	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:67674400-67684600	Weak transcription	Fetal Lung	lung
33	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:67674600-67689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
37	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
38	chr12:67675400-67685400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:67675600-67685200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:67675600-67694600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:67675800-67685600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:67676200-67691000	Weak transcription	HMEC	breast
43	chr12:67676600-67685000	Strong transcription	A549	lung
44	chr12:67676800-67691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:67677400-67684600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:67677600-67684400	Weak transcription	Brain Germinal Matrix	brain
47	chr12:67678600-67684200	Weak transcription	Liver	Liver
48	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:67678800-67684200	Weak transcription	HSMMtube	muscle
50	chr12:67678800-67688400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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