Variant report

Variant	rs61954422
Chromosome Location	chr12:122865936-122865937
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	chr12:122864255..122866125-chr12:122882192..122884983,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10846839	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846854	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10846879	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846896	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057562	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11057787	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057801	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057810	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057832	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057894	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11057934	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11058001	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058009	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11058010	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11058043	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058062	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11058064	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11058099	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058136	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11058143	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058144	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058159	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058186	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11058206	0.87[AMR][1000 genomes]
rs11058232	0.85[AMR][1000 genomes]
rs12229152	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229345	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12424715	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12427143	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12427421	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2173581	0.87[AMR][1000 genomes]
rs3817012	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758661	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758672	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758694	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758697	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56861120	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56863652	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58062133	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58766840	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58853108	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61954399	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61954405	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954416	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61954418	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61954421	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61954425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61954427	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61954441	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61954442	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61954447	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954450	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8181750	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882969	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
2	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
3	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
4	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
5	chr12:122852000-122869800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:122852000-122869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:122852200-122867400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122852200-122869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:122852200-122870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:122852800-122867800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:122853200-122868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:122853800-122866600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:122853800-122868600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:122853800-122869000	Strong transcription	Placenta	Placenta
15	chr12:122854200-122868000	Strong transcription	Fetal Stomach	stomach
16	chr12:122854200-122868600	Weak transcription	Stomach Mucosa	stomach
17	chr12:122854400-122867600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122854600-122868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:122854800-122867000	Weak transcription	Psoas Muscle	Psoas
20	chr12:122855600-122867800	Strong transcription	Fetal Intestine Small	intestine
21	chr12:122855800-122867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122856000-122866600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:122856600-122877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:122856600-122878200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:122857600-122868000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:122859000-122867200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:122859200-122866800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:122859200-122867200	Strong transcription	Lung	lung
30	chr12:122859400-122867000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:122859400-122867200	Strong transcription	Liver	Liver
32	chr12:122859400-122867200	Strong transcription	Fetal Intestine Large	intestine
33	chr12:122860000-122869800	Weak transcription	Fetal Heart	heart
34	chr12:122860400-122866400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:122860400-122866600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
37	chr12:122862200-122870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:122862400-122866200	Weak transcription	Gastric	stomach
39	chr12:122862400-122867400	Weak transcription	HSMM	muscle
40	chr12:122862400-122869800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:122862400-122869800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:122862400-122876400	Weak transcription	Pancreas	Pancrea
43	chr12:122862400-122878600	Weak transcription	Primary B cells from cord blood	blood
44	chr12:122862400-122883800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:122862600-122866200	Weak transcription	Right Ventricle	heart
46	chr12:122862600-122867000	Weak transcription	HSMMtube	muscle
47	chr12:122862600-122869800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:122862600-122873400	Weak transcription	NH-A	brain
49	chr12:122862600-122879400	Weak transcription	NHLF	lung
50	chr12:122862600-122881600	Weak transcription	Thymus	Thymus

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