Variant report

Variant	rs56175661
Chromosome Location	chr12:121206349-121206350
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	chr12:121123033..121125000-chr12:121205934..121208435,2	K562	blood:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs12313339	1.00[ASN][1000 genomes]
rs1696360	1.00[ASN][1000 genomes]
rs1971317	1.00[ASN][1000 genomes]
rs2138250	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2393795	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs3850521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55645249	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55914930	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55980956	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56178989	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56231343	0.83[AFR][1000 genomes]
rs56280478	1.00[ASN][1000 genomes]
rs56284009	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56366632	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73214885	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73214898	0.86[AMR][1000 genomes]
rs73217009	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222694	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73222778	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222786	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	0.83[AFR][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73224303	1.00[ASN][1000 genomes]
rs73224309	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	1.00[ASN][1000 genomes]
rs73224318	1.00[ASN][1000 genomes]
rs73224321	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	1.00[ASN][1000 genomes]
rs73224324	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[ASN][1000 genomes]
rs73224335	1.00[ASN][1000 genomes]
rs73224338	1.00[ASN][1000 genomes]
rs73224340	1.00[ASN][1000 genomes]
rs73224341	1.00[ASN][1000 genomes]
rs73224342	1.00[ASN][1000 genomes]
rs73225003	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73226258	1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[ASN][1000 genomes]
rs73226267	1.00[ASN][1000 genomes]
rs73226270	1.00[ASN][1000 genomes]
rs73226273	1.00[ASN][1000 genomes]
rs73226274	1.00[ASN][1000 genomes]
rs73226287	1.00[ASN][1000 genomes]
rs73226288	1.00[ASN][1000 genomes]
rs73226292	1.00[ASN][1000 genomes]
rs73227016	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227026	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227033	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227038	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73229157	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs959400	1.00[ASN][1000 genomes]
rs9919745	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv976761	chr12:121202272-121210985	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121195600-121207200	Strong transcription	Brain Germinal Matrix	brain
2	chr12:121196400-121207000	Strong transcription	Fetal Brain Female	brain
3	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:121197000-121207200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:121197200-121210000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121197400-121207000	Strong transcription	Pancreas	Pancrea
7	chr12:121197400-121209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
9	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:121197600-121207200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:121197800-121209000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121197800-121212400	Strong transcription	Liver	Liver
14	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:121198000-121207200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:121198000-121207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
18	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:121198400-121207200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:121198400-121209800	Strong transcription	Dnd41	blood
21	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
22	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:121198600-121209200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:121198800-121207000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:121198800-121209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:121199000-121206800	Strong transcription	Hela-S3	cervix
27	chr12:121199000-121207000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:121199000-121207200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:121199200-121206600	Strong transcription	NHLF	lung
31	chr12:121199200-121209600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:121199400-121207400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:121199400-121207600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:121199600-121207200	Strong transcription	HSMM	muscle
35	chr12:121199600-121207400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:121199800-121207200	Strong transcription	Brain Anterior Caudate	brain
37	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
39	chr12:121200000-121207000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:121200000-121207000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:121200200-121207200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
43	chr12:121200400-121207200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:121200400-121209800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:121200400-121210000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:121200600-121210000	Strong transcription	Esophagus	oesophagus
47	chr12:121200600-121211200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:121200800-121206600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr12:121200800-121207000	Strong transcription	Left Ventricle	heart

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